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<!--
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UID=813461
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ConceptID=C3807131
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Reduced renal corticomedullary differentiation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813461</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) Click for more information.">C3807131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Loss of definition of corticomedullary differentiation</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005565">HP:0005565</a></td></tr>
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<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">Reduced differentiation between renal cortex and medulla on diagnostic imaging. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<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>
|
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<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">Reduced renal corticomedullary differentiation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/869219" ref="tree=MeSH" title="MedGen record for Abnormality of the upper urinary tract">Abnormality of the upper urinary tract</a></span><ul><li><span class="TLline"><a href="/medgen/78593" ref="tree=MeSH" title="MedGen record for Abnormality of the kidney">Abnormality of the kidney</a></span><ul><li><span class="TLline"><a href="/medgen/1633142" ref="tree=MeSH" title="MedGen record for Abnormal renal morphology">Abnormal renal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867528" ref="tree=MeSH" title="MedGen record for Abnormal renal medulla morphology">Abnormal renal medulla morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870648" ref="tree=MeSH" title="MedGen record for Abnormal renal corticomedullary differentiation">Abnormal renal corticomedullary differentiation</a></span><ul><li><span class="matched_ds">Reduced renal corticomedullary differentiation</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<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_341455"><div><strong>Saldino-Mainzer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341455</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) Click for more information.">C1849437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341455">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347545"><div><strong>Joubert syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347545</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) Click for more information.">C1857780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347545">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347219"><div><strong>Arthrogryposis, renal dysfunction, and cholestasis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347219</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) Click for more information.">C1859722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis with low GGT (612346) activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life (Gissen et al., 2006; Smith et al., 2012). Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347219">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355430"><div><strong>Bartter disease type 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355430</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) Click for more information.">C1865270</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370587"><div><strong>Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370587</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) Click for more information.">C1969055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370587">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1624679"><div><strong>Polycystic kidney disease 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1624679</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) Click for more information.">C4539903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1624679">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645893"><div><strong>Familial juvenile hyperuricemic nephropathy type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645893</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) Click for more information.">C4551496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the third and seventh decades. Hyperuricemia is often present from an early age, and gout (resulting from reduced kidney excretion of uric acid) occurs in the teenage years in about 8% of affected individuals and develops in 55% of affected individuals over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1636833"><div><strong>Focal segmental glomerulosclerosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636833</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) Click for more information.">C4551527</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 finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998). D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte. Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome Focal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); FSGS9 (616220), caused by mutation in the CRB2 gene (609720); and FSGS10 (256020), caused by mutation in the LMX1B gene (602575). See also NPHS1 (256300), caused by mutation in the NPHS1 gene (602716); NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); NPHS4 (256370), caused by mutation in the WT1 gene (607102); NPHS5 (614199), caused by mutation in the LAMB2 gene (150325); NPHS6 (614196), caused by mutation in the PTPRO gene (600579); NPHS7 (615008), caused by mutation in the DGKE gene (601440); NPHS8 (615244), caused by mutation in the ARHGDIA gene (601925); NPHS9 (615573), caused by mutation in the COQ8B gene (615567); NPHS10 (615861), caused by mutation in the EMP2 gene (602334); NPHS11 (616730), caused by mutation in the NUP107 gene (607617); NPHS12 (616892), caused by mutation in the NUP93 gene (614351); NPHS13 (616893), caused by mutation in the NUP205 gene (614352); NPHS14 (617575), caused by mutation in the SGPL1 gene (603729); NPHS15 (617609), caused by mutation in the MAGI2 gene (606382); NPHS16 (617783), caused by mutation in the KANK2 gene (614610), NPHS17 (618176), caused by mutation in the NUP85 gene (170285); NPHS18 (618177), caused by mutation in the NUP133 gene (607613); NPHS19 (618178), caused by mutation in the NUP160 gene (607614); NPHS20 (301028), caused by mutation in the TBC1D8B gene (301027); and NPHS21 (618594) caused by mutation in the AVIL gene (613397).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1636833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645760"><div><strong>Cornelia de Lange syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645760</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) Click for more information.">C4551851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645760">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684826"><div><strong>Hypopigmentation, organomegaly, and delayed myelination and development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684826</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) Click for more information.">C5203300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypopigmentation, organomegaly, and delayed myelination and development (HOD) is characterized by hypopigmented skin and hair with normally pigmented irides; organomegaly including enlargement of liver, kidney, and spleen; and delayed myelination on brain MRI accompanied by developmental delay in both gross and fine motor skills. Biopsy findings from skin and other organs are consistent with a lysosomal storage disorder (Nicoli et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684826">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684689"><div><strong>Neuromuscular disease and ocular or auditory anomalies with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684689</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) Click for more information.">C5231483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuromuscular oculoauditory syndrome (NMOAS) is a neurodevelopmental disorder with variable features including hypotonia, nonspecific developmental delay, and ear deformity or sensorineural deafness. Features may be reminiscent of Aicardi syndrome (see 304050), with chorioretinal lacunae, infantile spasms, and agenesis of the corpus callosum (Paine et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684689">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1797978"><div><strong>Mayer Rokitansky Kuster Hauser syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1797978</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) Click for more information.">C5566555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1797978">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808950"><div><strong>Hepatorenocardiac degenerative fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808950</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) Click for more information.">C5676996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hepatorenocardiac degenerative fibrosis (HRCDF) is a primarily fibrotic disease affecting the liver, kidney, and heart, with considerable variability in disease onset and expression. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with variable later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy (Devane et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808950">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823993"><div><strong>Microcephaly 29, primary, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823993</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) Click for more information.">C5774220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive primary microcephaly-29 (MCPH29) is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures (Khan et al., 2020). For a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823993">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, renal dysfunction, and cholestasis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 4A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornelia de Lange syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial juvenile hyperuricemic nephropathy type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal segmental glomerulosclerosis 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatorenocardiac degenerative fibrosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopigmentation, organomegaly, and delayed myelination and development</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1797978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mayer Rokitansky Kuster Hauser syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 29, primary, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuromuscular disease and ocular or auditory anomalies with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1624679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic kidney disease 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saldino-Mainzer syndrome</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/29470157">Solid Small Renal Mass Without Gross Fat: CT Criteria for Achieving Excellent Positive Predictive Value for Renal Cell Carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park SY,
|
||
Shin SJ,
|
||
Cho NH,
|
||
Jung DC,
|
||
Rha KH,
|
||
Han WK,
|
||
Oh YT</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2018 Apr;210(4):W148-W155.
|
||
Epub 2018 Feb 22
|
||
doi: 10.2214/AJR.17.18421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29470157" target="_blank">29470157</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(reduced%20renal%20corticomedullary%20differentiation)%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 (1)</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/35059812">Role of blood oxygen level-dependent magnetic resonance imaging in studying renal oxygenation changes in renal artery stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lal H,
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||
Singh P,
|
||
Ponmalai K,
|
||
Prasad R,
|
||
Singh SP,
|
||
Yadav P,
|
||
Singh A,
|
||
Bhadauria D,
|
||
Kumar S,
|
||
Agarwal V,
|
||
Mishra P</span><br />
|
||
<span class="medgenPMjournal">Abdom Radiol (NY)</span>
|
||
2022 Mar;47(3):1112-1123.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1007/s00261-022-03408-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35059812" target="_blank">35059812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34675323">Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borrelli P,
|
||
Zacchia M,
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|
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<div class="nl"><a target="_blank" href="/pubmed/31979979">Application of T1-weighted BLADE sequence to abdominal magnetic resonance imaging of young children: a comparison with turbo spin echo sequence.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Choi KS,
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Choi YH,
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Cheon JE,
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2020 Oct;61(10):1406-1413.
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<span class="bold">PMID: </span><a href="/pubmed/31979979" target="_blank">31979979</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30084479">Sequential sonographic features in neonatal renal vein thrombosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mikołajczak A,
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Tytkowska A,
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Jaworska A,
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Wesołowska A,
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Borszewska-Kornacka MK,
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Bokiniec R</span><br />
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2018;89(5):271-275.
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<span class="bold">PMID: </span><a href="/pubmed/30084479" target="_blank">30084479</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8379468">Administration and dosage of iohexol, a nonionic contrast medium, for dynamic renal computed tomography.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tsugaya M,
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Sakagami H,
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Mogami T,
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Ohtaguro K,
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Hirao N,
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Kato F,
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Kato J,
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Hori T,
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Iwase Y</span><br />
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<span class="medgenPMjournal">Hinyokika Kiyo</span>
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1993 Aug;39(8):687-93.
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<span class="bold">PMID: </span><a href="/pubmed/8379468" target="_blank">8379468</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20renal%20corticomedullary%20differentiation%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34085292">Ultrasonographic predictors in chronic kidney disease: A hospital based case control study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gupta P,
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Chatterjee S,
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Debnath J,
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Nayan N,
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Gupta SD</span><br />
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<span class="medgenPMjournal">J Clin Ultrasound</span>
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2021 Sep;49(7):715-719.
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<span class="bold">PMID: </span><a href="/pubmed/34085292" target="_blank">34085292</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30169495">Gray Scale Ultrasound, Color Doppler Ultrasound, and Contrast-Enhanced Ultrasound in Renal Parenchymal Diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Quaia E,
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Correas JM,
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Mehta M,
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Murchison JT,
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Gennari AG,
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van Beek EJR</span><br />
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doi: 10.1097/RUQ.0000000000000383.
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<div class="nl"><a target="_blank" href="/pubmed/30137583">Magnetic resonance imaging T1- and T2-mapping to assess renal structure and function: a systematic review and statement paper.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolf M,
|
||
de Boer A,
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||
Sharma K,
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Boor P,
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||
Leiner T,
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Sunder-Plassmann G,
|
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Moser E,
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Caroli A,
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Jerome NP</span><br />
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<span class="medgenPMjournal">Nephrol Dial Transplant</span>
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2018 Sep 1;33(suppl_2):ii41-ii50.
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doi: 10.1093/ndt/gfy198.
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<span class="bold">PMID: </span><a href="/pubmed/30137583" target="_blank">30137583</a><a href="/pmc/articles/PMC6106643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30084479">Sequential sonographic features in neonatal renal vein thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikołajczak A,
|
||
Tytkowska A,
|
||
Jaworska A,
|
||
Wesołowska A,
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Borszewska-Kornacka MK,
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Bokiniec R</span><br />
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<span class="medgenPMjournal">Ginekol Pol</span>
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2018;89(5):271-275.
|
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doi: 10.5603/GP.a2018.0046.
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<span class="bold">PMID: </span><a href="/pubmed/30084479" target="_blank">30084479</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/18404284">Neonatal renal vein thrombosis: grey-scale and Doppler ultrasonic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elsaify WM</span><br />
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<span class="medgenPMjournal">Abdom Imaging</span>
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2009 May-Jun;34(3):413-8.
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doi: 10.1007/s00261-008-9394-6.
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<span class="bold">PMID: </span><a href="/pubmed/18404284" target="_blank">18404284</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20renal%20corticomedullary%20differentiation%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 (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33479443">Multiparametric ultrasound findings in acute kidney failure due to rare renal cortical necrosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Spiesecke P,
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Münch F,
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Fischer T,
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Hamm B,
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Lerchbaumer MH</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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2021 Jan 21;11(1):2060.
|
||
doi: 10.1038/s41598-021-81690-x.
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<span class="bold">PMID: </span><a href="/pubmed/33479443" target="_blank">33479443</a><a href="/pmc/articles/PMC7820240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8379468">Administration and dosage of iohexol, a nonionic contrast medium, for dynamic renal computed tomography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsugaya M,
|
||
Sakagami H,
|
||
Mogami T,
|
||
Ohtaguro K,
|
||
Hirao N,
|
||
Kato F,
|
||
Kato J,
|
||
Hori T,
|
||
Iwase Y</span><br />
|
||
<span class="medgenPMjournal">Hinyokika Kiyo</span>
|
||
1993 Aug;39(8):687-93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8379468" target="_blank">8379468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2646582">Hypothesis: reduced renal mass with glomerular hyperfiltration, a cause of renal hyperechogenicity in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avni EF,
|
||
Van Sinoy ML,
|
||
Hall M,
|
||
Stallenberg B,
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Matos C</span><br />
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<span class="medgenPMjournal">Pediatr Radiol</span>
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1989;19(2):108-10.
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doi: 10.1007/BF02387897.
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<span class="bold">PMID: </span><a href="/pubmed/2646582" target="_blank">2646582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3286080">Comparison of magnetic resonance imaging and radionuclide imaging in the evaluation of renal transplant failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldsmith MS,
|
||
Tanasescu DE,
|
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Waxman AD,
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Crues JV 3rd</span><br />
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<span class="medgenPMjournal">Clin Nucl Med</span>
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1988 Apr;13(4):250-7.
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doi: 10.1097/00003072-198804000-00005.
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<span class="bold">PMID: </span><a href="/pubmed/3286080" target="_blank">3286080</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20renal%20corticomedullary%20differentiation%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35059812">Role of blood oxygen level-dependent magnetic resonance imaging in studying renal oxygenation changes in renal artery stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lal H,
|
||
Singh P,
|
||
Ponmalai K,
|
||
Prasad R,
|
||
Singh SP,
|
||
Yadav P,
|
||
Singh A,
|
||
Bhadauria D,
|
||
Kumar S,
|
||
Agarwal V,
|
||
Mishra P</span><br />
|
||
<span class="medgenPMjournal">Abdom Radiol (NY)</span>
|
||
2022 Mar;47(3):1112-1123.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1007/s00261-022-03408-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35059812" target="_blank">35059812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34085292">Ultrasonographic predictors in chronic kidney disease: A hospital based case control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta P,
|
||
Chatterjee S,
|
||
Debnath J,
|
||
Nayan N,
|
||
Gupta SD</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2021 Sep;49(7):715-719.
|
||
Epub 2021 Jun 4
|
||
doi: 10.1002/jcu.23026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34085292" target="_blank">34085292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30084479">Sequential sonographic features in neonatal renal vein thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikołajczak A,
|
||
Tytkowska A,
|
||
Jaworska A,
|
||
Wesołowska A,
|
||
Borszewska-Kornacka MK,
|
||
Bokiniec R</span><br />
|
||
<span class="medgenPMjournal">Ginekol Pol</span>
|
||
2018;89(5):271-275.
|
||
doi: 10.5603/GP.a2018.0046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30084479" target="_blank">30084479</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18404284">Neonatal renal vein thrombosis: grey-scale and Doppler ultrasonic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elsaify WM</span><br />
|
||
<span class="medgenPMjournal">Abdom Imaging</span>
|
||
2009 May-Jun;34(3):413-8.
|
||
doi: 10.1007/s00261-008-9394-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18404284" target="_blank">18404284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2646582">Hypothesis: reduced renal mass with glomerular hyperfiltration, a cause of renal hyperechogenicity in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avni EF,
|
||
Van Sinoy ML,
|
||
Hall M,
|
||
Stallenberg B,
|
||
Matos C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1989;19(2):108-10.
|
||
doi: 10.1007/BF02387897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2646582" target="_blank">2646582</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20renal%20corticomedullary%20differentiation%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35059812">Role of blood oxygen level-dependent magnetic resonance imaging in studying renal oxygenation changes in renal artery stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lal H,
|
||
Singh P,
|
||
Ponmalai K,
|
||
Prasad R,
|
||
Singh SP,
|
||
Yadav P,
|
||
Singh A,
|
||
Bhadauria D,
|
||
Kumar S,
|
||
Agarwal V,
|
||
Mishra P</span><br />
|
||
<span class="medgenPMjournal">Abdom Radiol (NY)</span>
|
||
2022 Mar;47(3):1112-1123.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1007/s00261-022-03408-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35059812" target="_blank">35059812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34085292">Ultrasonographic predictors in chronic kidney disease: A hospital based case control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta P,
|
||
Chatterjee S,
|
||
Debnath J,
|
||
Nayan N,
|
||
Gupta SD</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2021 Sep;49(7):715-719.
|
||
Epub 2021 Jun 4
|
||
doi: 10.1002/jcu.23026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34085292" target="_blank">34085292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30137583">Magnetic resonance imaging T1- and T2-mapping to assess renal structure and function: a systematic review and statement paper.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolf M,
|
||
de Boer A,
|
||
Sharma K,
|
||
Boor P,
|
||
Leiner T,
|
||
Sunder-Plassmann G,
|
||
Moser E,
|
||
Caroli A,
|
||
Jerome NP</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2018 Sep 1;33(suppl_2):ii41-ii50.
|
||
doi: 10.1093/ndt/gfy198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30137583" target="_blank">30137583</a><a href="/pmc/articles/PMC6106643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18404284">Neonatal renal vein thrombosis: grey-scale and Doppler ultrasonic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elsaify WM</span><br />
|
||
<span class="medgenPMjournal">Abdom Imaging</span>
|
||
2009 May-Jun;34(3):413-8.
|
||
doi: 10.1007/s00261-008-9394-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18404284" target="_blank">18404284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11322381">Glypicans and the biology of renal malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grisaru S,
|
||
Rosenblum ND</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2001 Mar;16(3):302-6.
|
||
doi: 10.1007/s004670000530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11322381" target="_blank">11322381</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20renal%20corticomedullary%20differentiation%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 (14)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30137583">Magnetic resonance imaging T1- and T2-mapping to assess renal structure and function: a systematic review and statement paper.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolf M,
|
||
de Boer A,
|
||
Sharma K,
|
||
Boor P,
|
||
Leiner T,
|
||
Sunder-Plassmann G,
|
||
Moser E,
|
||
Caroli A,
|
||
Jerome NP</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2018 Sep 1;33(suppl_2):ii41-ii50.
|
||
doi: 10.1093/ndt/gfy198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30137583" target="_blank">30137583</a><a href="/pmc/articles/PMC6106643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20renal%20corticomedullary%20differentiation%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Reduced%20renal%20corticomedullary%20differentiation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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