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<!--
UID=65997
ConceptID=C0239937
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Microscopic hematuria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65997</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0239937</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Microhematuria</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Microscopic hematuria (197940006)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002907">HP:0002907</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Microscopic hematuria detected by dipstick or microscopic examination of the urine. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Microscopic hematuria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/154411" ref="tree=MeSH" title="MedGen record for Abnormal urine cytology">Abnormal urine cytology</a></span><ul><li><span class="TLline"><a href="/medgen/5488" ref="tree=MeSH" title="MedGen record for Hematuria">Hematuria</a></span><ul><li><span class="matched_ds">Microscopic hematuria</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_120640"><div><strong>Primary hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120640</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268448</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016).&#13; A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement.&#13; For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120640">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75691"><div><strong>Hyperhydroxyprolinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75691</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268531</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75691">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98012"><div><strong>Progressive hereditary glomerulonephritis without deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98012</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0403443</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98012">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98017"><div><strong>Glomerulopathy with fibronectin deposits 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98017</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0403557</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; 135600) (Castelletti et al., 2008).&#13; Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits&#13; The GFND1 locus maps to chromosome 1q32. See also GFND2 (601894), which is caused by mutation in the FN1 gene (135600) on chromosome 2q35.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98017">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_96047"><div><strong>X-linked recessive nephrolithiasis with renal failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96047</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0403720</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96047">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_224783"><div><strong>Upshaw-Schulman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224783</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1268935</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome (USS), is a rare autosomal recessive thrombotic microangiopathy (TMA). Clinically, acute phases of TTP are defined by microangiopathic mechanical hemolytic anemia, severe thrombocytopenia, and visceral ischemia. Hereditary TTP makes up 5% of TTP cases and is caused mostly by biallelic mutation in the ADAMTS13 gene, or in very rare cases, by monoallelic ADAMTS13 mutation associated with a cluster of single-nucleotide polymorphisms (SNPs); most cases of all TTP (95%) are acquired via an autoimmune mechanism (see 188030). Hereditary TTP is more frequent among child-onset TTP compared with adult-onset TTP, and its clinical presentation is significantly different as a function of its age of onset. Child-onset TTP usually starts in the neonatal period with hematological features and severe jaundice. In contrast, almost all cases of adult-onset hereditary TTP are unmasked during the first pregnancy of a woman whose disease was silent during childhood (summary by Joly et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/224783">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318751"><div><strong>Infundibulopelvic stenosis-multicystic kidney syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318751</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1832949</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318751">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333426"><div><strong>Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333426</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1839874</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333426">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333429"><div><strong>X-linked diffuse leiomyomatosis-Alport syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333429</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1839884</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333429">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336322"><div><strong>Dent disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336322</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848336</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336322">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356149"><div><strong>Glomerulopathy with fibronectin deposits 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356149</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1866075</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (Castelletti et al., 2008).&#13; For a discussion of genetic heterogeneity of GFND, see 137950.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356149">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_413315"><div><strong>Focal segmental glomerulosclerosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413315</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2750475</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).&#13; Dominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE; 614455) is also caused by heterozygous mutation in the INF2 gene.&#13; For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/413315">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419735"><div><strong>Nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419735</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2931187</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_865256"><div><strong>Imerslund-Grasbeck syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>865256</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4016819</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010).&#13; Genetic Heterogeneity and Classification of Methylglutaconic Aciduria&#13; Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; 258501), caused by mutation in the OPA3 gene (606580) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; 250951) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; 610198), caused by mutation in the DNAJC19 gene (608977) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7B, 616271 and MGCA7A, 619835), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MGCA (MGCA8; 617248) is caused by mutation in the HTRA2 gene (606441) on chromosome 2p13. Type IX MGCA (MGCA9; 617698) is caused by mutation in the TIMM50 gene (607381) on chromosome 19q13.&#13; Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003.&#13; Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/865256">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_884569"><div><strong>C3 glomerulonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>884569</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4055342</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">C3 glomerulopathy-3 (C3G3) is an autosomal dominant kidney disease characterized by the onset of microscopic or macroscopic hematuria in the first 3 decades of life, followed by variable progression of renal disease. After age 30, about half of patients continue to have episodic hematuria while maintaining normal renal function, whereas the other half develop proteinuria and progressive renal failure or end-stage renal disease. In some cases, renal dysfunction may be triggered or exacerbated by an infectious disease, often an upper respiratory infection or pharyngitis. Some patients may also develop hypertension. Renal biopsy shows glomerular C3 deposition and mesangial proliferation with glomerulonephritis. Membranoproliferative glomerulonephritis (MPGN) may also be observed on renal biopsy. Males tend to have a more severe phenotype than females and are more likely to develop end-stage renal disease, often necessitating dialysis or renal transplant (summary by Athanasiou et al., 2011).&#13; For a general description and discussion of genetic heterogeneity of C3G, see C3G1 (609814).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/884569">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1635231"><div><strong>Familial amyloid polyneuropathy, Iowa type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635231</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551500</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary amyloidosis is an autosomal dominant disorder in which amyloid deposition occurs in various tissues. Hereditary systemic amyloidosis-3 (AMYLD3) is characterized by a wide clinical spectrum including amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Amyloid deposition can also occur in skin, larynx (resulting in hoarseness), and testis (resulting in infertility) (summary by Hamidi Asl et al., 1999, Lachmann et al., 2002).&#13; For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1635231">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648433"><div><strong>X-linked Alport syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648433</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4746986</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648433">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648294"><div><strong>Nephrotic syndrome, type 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648294</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4748545</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nephrotic syndrome type 17 (NPHS17), a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (Braun et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648294">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1745920"><div><strong>Nephrotic syndrome, type 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1745920</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436909</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant (Majmundar et al., 2021).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1745920">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794196"><div><strong>Congenital disorder of glycosylation, type IIw</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794196</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561986</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021).&#13; For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794196">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841057"><div><strong>Hematuria, benign familial, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841057</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830421</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Benign familial hematuria (BFH) is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (see 301050), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)).&#13; For a discussion of genetic heterogeneity of BFH, see BFH1 (141200).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841057">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1848787"><div><strong>Autosomal dominant Alport syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848787</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882663</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1848787">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1848447"><div><strong>Alport syndrome 3b, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848447</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882699</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1848447">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alport syndrome 3b, autosomal recessive</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant Alport syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_884569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">C3 glomerulonephritis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dent disease type 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal segmental glomerulosclerosis 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomerulopathy with fibronectin deposits 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathic cystinosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive hereditary glomerulonephritis without deafness</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_224783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upshaw-Schulman syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked Alport syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked diffuse leiomyomatosis-Alport syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive nephrolithiasis with renal failure</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37772889">Treatment of IgA Nephropathy: A Rapidly Evolving Field.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El Karoui K,
Fervenza FC,
De Vriese AS</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2024 Jan 1;35(1):103-116.
Epub 2023 Sep 29
doi: 10.1681/ASN.0000000000000242.
<span class="bold">PMID: </span><a href="/pubmed/37772889" target="_blank">37772889</a><a href="/pmc/articles/PMC10786616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33495883">Treatment and Management of Loin Pain Hematuria Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Urits I,
Li N,
Berger AA,
Walker P,
Wesp B,
Zamarripa AM,
An D,
Cornett EM,
Abd-Elsayed A,
Kaye AD</span><br />
<span class="medgenPMjournal">Curr Pain Headache Rep</span>
2021 Jan 25;25(1):6.
doi: 10.1007/s11916-020-00925-0.
<span class="bold">PMID: </span><a href="/pubmed/33495883" target="_blank">33495883</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32026313">Approach to Diagnosis and Management of Hematuria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vedula R,
Iyengar AA</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2020 Aug;87(8):618-624.
Epub 2020 Feb 6
doi: 10.1007/s12098-020-03184-4.
<span class="bold">PMID: </span><a href="/pubmed/32026313" target="_blank">32026313</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22microscopic%20hematuria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (71)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/37772889">Treatment of IgA Nephropathy: A Rapidly Evolving Field.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El Karoui K,
Fervenza FC,
De Vriese AS</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2024 Jan 1;35(1):103-116.
Epub 2023 Sep 29
doi: 10.1681/ASN.0000000000000242.
<span class="bold">PMID: </span><a href="/pubmed/37772889" target="_blank">37772889</a><a href="/pmc/articles/PMC10786616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31331759">Dysproteinemia and the Kidney: Core Curriculum 2019.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hogan JJ,
Alexander MP,
Leung N</span><br />
<span class="medgenPMjournal">Am J Kidney Dis</span>
2019 Dec;74(6):822-836.
Epub 2019 Jul 19
doi: 10.1053/j.ajkd.2019.04.029.
<span class="bold">PMID: </span><a href="/pubmed/31331759" target="_blank">31331759</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31030828">Hematuria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peterson LM,
Reed HS</span><br />
<span class="medgenPMjournal">Prim Care</span>
2019 Jun;46(2):265-273.
Epub 2019 Apr 1
doi: 10.1016/j.pop.2019.02.008.
<span class="bold">PMID: </span><a href="/pubmed/31030828" target="_blank">31030828</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30454751">Infection-Related Glomerulonephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hunt EAK,
Somers MJG</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2019 Feb;66(1):59-72.
doi: 10.1016/j.pcl.2018.08.005.
<span class="bold">PMID: </span><a href="/pubmed/30454751" target="_blank">30454751</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25554106">Acute poststreptococcal glomerulonephritis: the most common acute glomerulonephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">VanDeVoorde RG 3rd</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
2015 Jan;36(1):3-12; quiz 13.
doi: 10.1542/pir.36-1-3.
<span class="bold">PMID: </span><a href="/pubmed/25554106" target="_blank">25554106</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microscopic%20hematuria%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (690)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36880922">Acute Postinfectious Glomerulonephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Duong MD,
Reidy KJ</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2022 Dec;69(6):1051-1078.
Epub 2022 Oct 29
doi: 10.1016/j.pcl.2022.08.001.
<span class="bold">PMID: </span><a href="/pubmed/36880922" target="_blank">36880922</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32392525">Microscopic hematuria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vlasschaert C,
Lanktree MB</span><br />
<span class="medgenPMjournal">CMAJ</span>
2020 Apr 6;192(14):E370.
doi: 10.1503/cmaj.191615.
<span class="bold">PMID: </span><a href="/pubmed/32392525" target="_blank">32392525</a><a href="/pmc/articles/PMC7145372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32026313">Approach to Diagnosis and Management of Hematuria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vedula R,
Iyengar AA</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2020 Aug;87(8):618-624.
Epub 2020 Feb 6
doi: 10.1007/s12098-020-03184-4.
<span class="bold">PMID: </span><a href="/pubmed/32026313" target="_blank">32026313</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31030828">Hematuria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peterson LM,
Reed HS</span><br />
<span class="medgenPMjournal">Prim Care</span>
2019 Jun;46(2):265-273.
Epub 2019 Apr 1
doi: 10.1016/j.pop.2019.02.008.
<span class="bold">PMID: </span><a href="/pubmed/31030828" target="_blank">31030828</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30177015">Epidemiology of IgA Nephropathy: A Global Perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schena FP,
Nistor I</span><br />
<span class="medgenPMjournal">Semin Nephrol</span>
2018 Sep;38(5):435-442.
doi: 10.1016/j.semnephrol.2018.05.013.
<span class="bold">PMID: </span><a href="/pubmed/30177015" target="_blank">30177015</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microscopic%20hematuria%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (964)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33201207">Bladder Cancer: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lenis AT,
Lec PM,
Chamie K,
Mshs MD</span><br />
<span class="medgenPMjournal">JAMA</span>
2020 Nov 17;324(19):1980-1991.
doi: 10.1001/jama.2020.17598.
<span class="bold">PMID: </span><a href="/pubmed/33201207" target="_blank">33201207</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31331759">Dysproteinemia and the Kidney: Core Curriculum 2019.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hogan JJ,
Alexander MP,
Leung N</span><br />
<span class="medgenPMjournal">Am J Kidney Dis</span>
2019 Dec;74(6):822-836.
Epub 2019 Jul 19
doi: 10.1053/j.ajkd.2019.04.029.
<span class="bold">PMID: </span><a href="/pubmed/31331759" target="_blank">31331759</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25554106">Acute poststreptococcal glomerulonephritis: the most common acute glomerulonephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">VanDeVoorde RG 3rd</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
2015 Jan;36(1):3-12; quiz 13.
doi: 10.1542/pir.36-1-3.
<span class="bold">PMID: </span><a href="/pubmed/25554106" target="_blank">25554106</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19212144">Temsirolimus-induced glomerulopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Izzedine H,
Boostandoot E,
Spano JP,
Bardier A,
Khayat D</span><br />
<span class="medgenPMjournal">Oncology</span>
2009;76(3):170-2.
Epub 2009 Feb 12
doi: 10.1159/000201930.
<span class="bold">PMID: </span><a href="/pubmed/19212144" target="_blank">19212144</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6365401">Hypercalciuria in clinical pediatrics. A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Langman CB,
Moore ES</span><br />
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
1984 Mar;23(3):135-7.
doi: 10.1177/000992288402300301.
<span class="bold">PMID: </span><a href="/pubmed/6365401" target="_blank">6365401</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microscopic%20hematuria%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (431)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37772889">Treatment of IgA Nephropathy: A Rapidly Evolving Field.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El Karoui K,
Fervenza FC,
De Vriese AS</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2024 Jan 1;35(1):103-116.
Epub 2023 Sep 29
doi: 10.1681/ASN.0000000000000242.
<span class="bold">PMID: </span><a href="/pubmed/37772889" target="_blank">37772889</a><a href="/pmc/articles/PMC10786616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30454740">Approach to the Child with Hematuria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brown DD,
Reidy KJ</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2019 Feb;66(1):15-30.
doi: 10.1016/j.pcl.2018.08.003.
<span class="bold">PMID: </span><a href="/pubmed/30454740" target="_blank">30454740</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30177015">Epidemiology of IgA Nephropathy: A Global Perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schena FP,
Nistor I</span><br />
<span class="medgenPMjournal">Semin Nephrol</span>
2018 Sep;38(5):435-442.
doi: 10.1016/j.semnephrol.2018.05.013.
<span class="bold">PMID: </span><a href="/pubmed/30177015" target="_blank">30177015</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25554106">Acute poststreptococcal glomerulonephritis: the most common acute glomerulonephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">VanDeVoorde RG 3rd</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
2015 Jan;36(1):3-12; quiz 13.
doi: 10.1542/pir.36-1-3.
<span class="bold">PMID: </span><a href="/pubmed/25554106" target="_blank">25554106</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21200183">The Five-Factor Score revisited: assessment of prognoses of systemic necrotizing vasculitides based on the French Vasculitis Study Group (FVSG) cohort.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guillevin L,
Pagnoux C,
Seror R,
Mahr A,
Mouthon L,
Toumelin PL;
French Vasculitis Study Group (FVSG)</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2011 Jan;90(1):19-27.
doi: 10.1097/MD.0b013e318205a4c6.
<span class="bold">PMID: </span><a href="/pubmed/21200183" target="_blank">21200183</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microscopic%20hematuria%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (508)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37772889">Treatment of IgA Nephropathy: A Rapidly Evolving Field.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El Karoui K,
Fervenza FC,
De Vriese AS</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2024 Jan 1;35(1):103-116.
Epub 2023 Sep 29
doi: 10.1681/ASN.0000000000000242.
<span class="bold">PMID: </span><a href="/pubmed/37772889" target="_blank">37772889</a><a href="/pmc/articles/PMC10786616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33201207">Bladder Cancer: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lenis AT,
Lec PM,
Chamie K,
Mshs MD</span><br />
<span class="medgenPMjournal">JAMA</span>
2020 Nov 17;324(19):1980-1991.
doi: 10.1001/jama.2020.17598.
<span class="bold">PMID: </span><a href="/pubmed/33201207" target="_blank">33201207</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30177015">Epidemiology of IgA Nephropathy: A Global Perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schena FP,
Nistor I</span><br />
<span class="medgenPMjournal">Semin Nephrol</span>
2018 Sep;38(5):435-442.
doi: 10.1016/j.semnephrol.2018.05.013.
<span class="bold">PMID: </span><a href="/pubmed/30177015" target="_blank">30177015</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23978551">Urology patients in the nephrology practice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chi AC,
Flury SC</span><br />
<span class="medgenPMjournal">Adv Chronic Kidney Dis</span>
2013 Sep;20(5):441-8.
doi: 10.1053/j.ackd.2013.05.002.
<span class="bold">PMID: </span><a href="/pubmed/23978551" target="_blank">23978551</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21200183">The Five-Factor Score revisited: assessment of prognoses of systemic necrotizing vasculitides based on the French Vasculitis Study Group (FVSG) cohort.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guillevin L,
Pagnoux C,
Seror R,
Mahr A,
Mouthon L,
Toumelin PL;
French Vasculitis Study Group (FVSG)</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2011 Jan;90(1):19-27.
doi: 10.1097/MD.0b013e318205a4c6.
<span class="bold">PMID: </span><a href="/pubmed/21200183" target="_blank">21200183</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microscopic%20hematuria%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (386)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34394293">Indian scenario of IgA nephropathy: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Khairwa A</span><br />
<span class="medgenPMjournal">Afr Health Sci</span>
2021 Mar;21(1):159-165.
doi: 10.4314/ahs.v21i1.21.
<span class="bold">PMID: </span><a href="/pubmed/34394293" target="_blank">34394293</a><a href="/pmc/articles/PMC8356571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33685345">Hematuria was a high risk for renal progression and ESRD in immunoglobulin a nephropathy: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">He P,
Wang H,
Huang C,
He L</span><br />
<span class="medgenPMjournal">Ren Fail</span>
2021 Dec;43(1):488-499.
doi: 10.1080/0886022X.2021.1879852.
<span class="bold">PMID: </span><a href="/pubmed/33685345" target="_blank">33685345</a><a href="/pmc/articles/PMC7946061" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30998541">Microscopic Hematuria as a Screening Tool for Urologic Malignancies in Women.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jeppson PC,
Jakus-Waldman S,
Yazdany T,
Schimpf MO,
Ferzandi TR,
Yurteri-Kaplan LA,
Knoepp L,
Mamik M,
Resnick HE,
Ward RM;
Developed by the American Urogynecologic Society Systematic Review Committee</span><br />
<span class="medgenPMjournal">Female Pelvic Med Reconstr Surg</span>
2021 Jan 1;27(1):9-15.
doi: 10.1097/SPV.0000000000000726.
<span class="bold">PMID: </span><a href="/pubmed/30998541" target="_blank">30998541</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30177015">Epidemiology of IgA Nephropathy: A Global Perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schena FP,
Nistor I</span><br />
<span class="medgenPMjournal">Semin Nephrol</span>
2018 Sep;38(5):435-442.
doi: 10.1016/j.semnephrol.2018.05.013.
<span class="bold">PMID: </span><a href="/pubmed/30177015" target="_blank">30177015</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25627663">Micro- and macroscopic hematuria caused by renal vein entrapment: systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vianello FA,
Mazzoni MB,
Peeters GG,
Fossali EF,
Camozzi P,
Bianchetti MG,
Milani GP</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2016 Feb;31(2):175-84.
Epub 2015 Jan 28
doi: 10.1007/s00467-015-3045-2.
<span class="bold">PMID: </span><a href="/pubmed/25627663" target="_blank">25627663</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microscopic%20hematuria%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
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