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1013 lines
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<!--
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||
UID=105482
|
||
ConceptID=C0521619
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ureteropelvic junction obstruction</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105482</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.">C0521619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Pelvi-ureteric junction obstruction; Pelviureteric Junction Obstruction</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>PUJ - Pelviureteric obstruction (95575002); PUO - Pelviureteric obstruction (95575002); Pelviureteric obstruction (95575002); UPJ - Ureteropelvic obstruction (95575002); Obstruction of pelviureteric junction (95575002); Ureteropelvic obstruction (95575002)</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:0000074">HP:0000074</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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">Blockage of urine flow from the renal pelvis to the proximal ureter. [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>
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<div class="portlet mgSection" id="ID_118">
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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="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Ureteropelvic junction obstruction</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/374455" ref="tree=MeSH" title="MedGen record for Abnormality of the ureter">Abnormality of the ureter</a></span><ul><li><span class="TLline"><a href="/medgen/1706709" ref="tree=MeSH" title="MedGen record for Abnormal ureter physiology">Abnormal ureter physiology</a></span><ul><li><span class="TLline"><a href="/medgen/12012" ref="tree=MeSH" title="MedGen record for Ureteral obstruction">Ureteral obstruction</a></span><ul><li><span class="TLline"><a href="/medgen/105481" ref="tree=MeSH" title="MedGen record for Ureteral stenosis">Ureteral stenosis</a></span><ul><li><span class="matched_ds">Ureteropelvic junction obstruction</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">
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||
<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>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_61231"><div><strong>Smith-Lemli-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61231</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.">C0175694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96569"><div><strong>Renal cysts and diabetes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96569</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.">C0431693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208639"><div><strong>Kleefstra syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208639</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.">C0795833</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate-to-severe spectrum of intellectual disability although a few individuals have mild delay and total IQ within low-normal range. While most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed; these include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy / febrile seizures, psychiatric disorders, and extreme apathy or catatonic-like features after puberty.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208639">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162897"><div><strong>Kabuki syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162897</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.">C0796004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322763"><div><strong>Congenital anomalies of kidney and urinary tract 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322763</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.">C1835826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (120330) (summary by Renkema et al., 2011). Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary Tract Also see CAKUT2 (143400), caused by mutation in the TBX18 gene (604613) on chromosome 6q14, and CAKUT3 (618270), caused by mutation in the NRIP1 gene (602490) on chromosome 21q.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322763">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331103"><div><strong>Hand-foot-genital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331103</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."><span class="highlight" style="background-color:">C1841679</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital malformations include abnormalities of the ureters and urethra and various degrees of incomplete müllerian fusion in females, and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis may occur; fertility is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341214"><div><strong>CHIME syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341214</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.">C1848392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341214">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416704"><div><strong>46,XY sex reversal 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416704</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.">C2752149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sex reversal in an individual associated with a 9p24.3 deletion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416704">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462277"><div><strong>Vesicoureteral reflux 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462277</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.">C3150927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462277">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501171"><div><strong>Craniofacial microsomia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501171</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.">C3495417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501171">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_813018"><div><strong>SLC35A2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813018</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.">C3806688</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 IIm, or developmental and epileptic encephalopathy-22 (DEE22), is an X-linked dominant severe neurologic disorder characterized by infantile-onset seizures, hypsarrhythmia on EEG, hypotonia, and developmental delay associated with severe intellectual disability and lack of speech. These features are consistent with developmental and epileptic encephalopathy (DEE). Brain malformations usually include cerebral and cerebellar atrophy. Additionally, some patients may have dysmorphic features or coarse facies (Ng et al., 2013; Kodera et al., 2013). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813018">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</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.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934741"><div><strong>Intellectual disability, autosomal dominant 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934741</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.">C4310774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1375401"><div><strong>Gabriele de Vries syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375401</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.">C4479652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals and a wide spectrum of functional and morphologic abnormalities. Intrauterine growth restriction or low birth weight and feeding difficulties are common. Congenital brain, eye, heart, kidney, genital, and/or skeletal system anomalies have also been reported. About half of affected individuals have neurologic manifestations, including hypotonia and gait abnormalities. Behavioral issues can include attention-deficit/hyperactivity disorder, anxiety, autism or autistic behavior, and schizoaffective disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1375401">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1764743"><div><strong>Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1764743</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.">C5436530</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-17 (CMYO17) is an autosomal recessive muscle disorder. Affected individuals present at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging. Other features include poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some. The severity of the disorder is highly variable: some patients may have delayed motor development with mildly decreased endurance, whereas others have more severe hypotonia associated with distal arthrogryposis and lung hypoplasia, resulting in early death (summary by Watson et al., 2016 and Lopes et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1764743">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794194"><div><strong>Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794194</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.">C5561984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804316"><div><strong>Congenital anomalies of kidney and urinary tract 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804316</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.">C5574705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015). For a discussion of genetic heterogeneity of CAKUT, see 610805.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804316">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830325"><div><strong>Nephrolithiasis susceptibility caused by SLC26A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830325</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.">C5779632</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/1830325">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHIME syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322763" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital anomalies of kidney and urinary tract 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital anomalies of kidney and urinary tract 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial microsomia 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1375401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gabriele de Vries syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hand-foot-genital syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 42</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kabuki syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kleefstra syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1764743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis susceptibility caused by SLC26A1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cysts and diabetes syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SLC35A2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Lemli-Opitz syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicoureteral reflux 3</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/31811536">Management of antenatal hydronephrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yalçınkaya F,
|
||
Özçakar ZB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2020 Dec;35(12):2231-2239.
|
||
Epub 2019 Dec 6
|
||
doi: 10.1007/s00467-019-04420-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31811536" target="_blank">31811536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29068584">Hydronephrosis in the course of ureteropelvic junction obstruction: An underestimated problem? Current opinions on the pathogenesis, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krajewski W,
|
||
Wojciechowska J,
|
||
Dembowski J,
|
||
Zdrojowy R,
|
||
Szydełko T</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2017 Aug;26(5):857-864.
|
||
doi: 10.17219/acem/59509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29068584" target="_blank">29068584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18419335">Management of ureteropelvic junction obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerber GS,
|
||
Acharya SS</span><br />
|
||
<span class="medgenPMjournal">J Endourol</span>
|
||
2008 May;22(5):859-61.
|
||
doi: 10.1089/end.2008.0111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18419335" target="_blank">18419335</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ureteropelvic%20junction%20obstruction%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 (88)</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/37055343">Robot-assisted pyeloplasty for ureteropelvic junction obstruction in renal anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hajiyev P,
|
||
Gliatis A,
|
||
Gundeti MS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2023 Aug;19(4):484.
|
||
Epub 2023 Mar 31
|
||
doi: 10.1016/j.jpurol.2023.03.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055343" target="_blank">37055343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29068584">Hydronephrosis in the course of ureteropelvic junction obstruction: An underestimated problem? Current opinions on the pathogenesis, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krajewski W,
|
||
Wojciechowska J,
|
||
Dembowski J,
|
||
Zdrojowy R,
|
||
Szydełko T</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2017 Aug;26(5):857-864.
|
||
doi: 10.17219/acem/59509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29068584" target="_blank">29068584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17303018">Antegrade percutaneous endopyelotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ko R,
|
||
Duvdevani M,
|
||
Denstedt JD</span><br />
|
||
<span class="medgenPMjournal">Curr Urol Rep</span>
|
||
2007 Mar;8(2):128-33.
|
||
doi: 10.1007/s11934-007-0062-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17303018" target="_blank">17303018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12084284">The role of endourology in ureteropelvic junction obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Cangh PJ,
|
||
Nesa S,
|
||
Tombal B</span><br />
|
||
<span class="medgenPMjournal">Curr Urol Rep</span>
|
||
2001 Apr;2(2):149-53.
|
||
doi: 10.1007/s11934-001-0012-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12084284" target="_blank">12084284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11732127">Ureteropelvic junction obstruction in infants and children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González R,
|
||
Schimke CM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2001 Dec;48(6):1505-18.
|
||
doi: 10.1016/s0031-3955(05)70388-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11732127" target="_blank">11732127</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ureteropelvic%20junction%20obstruction%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 (997)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37385700">Ureteropelvic Junction Obstruction/Hydronephrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai PY,
|
||
Lee RS</span><br />
|
||
<span class="medgenPMjournal">Urol Clin North Am</span>
|
||
2023 Aug;50(3):361-369.
|
||
Epub 2023 May 22
|
||
doi: 10.1016/j.ucl.2023.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37385700" target="_blank">37385700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31811536">Management of antenatal hydronephrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yalçınkaya F,
|
||
Özçakar ZB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2020 Dec;35(12):2231-2239.
|
||
Epub 2019 Dec 6
|
||
doi: 10.1007/s00467-019-04420-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31811536" target="_blank">31811536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31227314">Management of ureteropelvic junction obstruction in children-a roundtable discussion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gopal M,
|
||
Peycelon M,
|
||
Caldamone A,
|
||
Chrzan R,
|
||
El-Ghoneimi A,
|
||
Olsen H,
|
||
Leclair MD,
|
||
Stillebroer A,
|
||
MacDonald C,
|
||
Tonnhofer U,
|
||
Strasser C,
|
||
Adam A,
|
||
Spinoit AF,
|
||
Haid B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2019 Aug;15(4):322-329.
|
||
Epub 2019 May 16
|
||
doi: 10.1016/j.jpurol.2019.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31227314" target="_blank">31227314</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29068584">Hydronephrosis in the course of ureteropelvic junction obstruction: An underestimated problem? Current opinions on the pathogenesis, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krajewski W,
|
||
Wojciechowska J,
|
||
Dembowski J,
|
||
Zdrojowy R,
|
||
Szydełko T</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2017 Aug;26(5):857-864.
|
||
doi: 10.17219/acem/59509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29068584" target="_blank">29068584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22857832">Hydronephrosis: a view from the inside.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mesrobian HG,
|
||
Mirza SP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2012 Aug;59(4):839-51.
|
||
doi: 10.1016/j.pcl.2012.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22857832" target="_blank">22857832</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ureteropelvic%20junction%20obstruction%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 (715)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36996790">Giant Hydronephrosis: A Rare Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirtzfeld N,
|
||
Leduc F,
|
||
Vaesen R</span><br />
|
||
<span class="medgenPMjournal">Urol Int</span>
|
||
2023;107(6):646-652.
|
||
Epub 2023 Mar 30
|
||
doi: 10.1159/000529033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36996790" target="_blank">36996790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36988287">Percutaneous management of ureteropelvic junction obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kominsky HD,
|
||
Johnson BA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Urol</span>
|
||
2023 Jul 1;33(4):345-350.
|
||
Epub 2023 Mar 29
|
||
doi: 10.1097/MOU.0000000000001091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36988287" target="_blank">36988287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25455175">The robotic-assisted laparoscopic pyeloplasty: gateway to advanced reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tasian GE,
|
||
Casale P</span><br />
|
||
<span class="medgenPMjournal">Urol Clin North Am</span>
|
||
2015 Feb;42(1):89-97.
|
||
Epub 2014 Nov 20
|
||
doi: 10.1016/j.ucl.2014.09.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25455175" target="_blank">25455175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17483809">The importance of crossing vessels in ureteropelvic junction obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varkarakis IM,
|
||
Deliveliotis C</span><br />
|
||
<span class="medgenPMjournal">Nat Clin Pract Urol</span>
|
||
2007 May;4(5):232-3.
|
||
doi: 10.1038/ncpuro0801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17483809" target="_blank">17483809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4830640">Malacoplakia causing bilateral ureteropelvic junction obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Halpern GN,
|
||
Kalies DW,
|
||
Factor S,
|
||
Wein AJ</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
1974 May;3(5):628-31.
|
||
doi: 10.1016/s0090-4295(74)80264-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4830640" target="_blank">4830640</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ureteropelvic%20junction%20obstruction%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 (270)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37385700">Ureteropelvic Junction Obstruction/Hydronephrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai PY,
|
||
Lee RS</span><br />
|
||
<span class="medgenPMjournal">Urol Clin North Am</span>
|
||
2023 Aug;50(3):361-369.
|
||
Epub 2023 May 22
|
||
doi: 10.1016/j.ucl.2023.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37385700" target="_blank">37385700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29068584">Hydronephrosis in the course of ureteropelvic junction obstruction: An underestimated problem? Current opinions on the pathogenesis, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krajewski W,
|
||
Wojciechowska J,
|
||
Dembowski J,
|
||
Zdrojowy R,
|
||
Szydełko T</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2017 Aug;26(5):857-864.
|
||
doi: 10.17219/acem/59509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29068584" target="_blank">29068584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25455175">The robotic-assisted laparoscopic pyeloplasty: gateway to advanced reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tasian GE,
|
||
Casale P</span><br />
|
||
<span class="medgenPMjournal">Urol Clin North Am</span>
|
||
2015 Feb;42(1):89-97.
|
||
Epub 2014 Nov 20
|
||
doi: 10.1016/j.ucl.2014.09.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25455175" target="_blank">25455175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22857832">Hydronephrosis: a view from the inside.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mesrobian HG,
|
||
Mirza SP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2012 Aug;59(4):839-51.
|
||
doi: 10.1016/j.pcl.2012.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22857832" target="_blank">22857832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17303018">Antegrade percutaneous endopyelotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ko R,
|
||
Duvdevani M,
|
||
Denstedt JD</span><br />
|
||
<span class="medgenPMjournal">Curr Urol Rep</span>
|
||
2007 Mar;8(2):128-33.
|
||
doi: 10.1007/s11934-007-0062-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17303018" target="_blank">17303018</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ureteropelvic%20junction%20obstruction%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 (500)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37385700">Ureteropelvic Junction Obstruction/Hydronephrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai PY,
|
||
Lee RS</span><br />
|
||
<span class="medgenPMjournal">Urol Clin North Am</span>
|
||
2023 Aug;50(3):361-369.
|
||
Epub 2023 May 22
|
||
doi: 10.1016/j.ucl.2023.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37385700" target="_blank">37385700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26667236">Prognostic factors and biomarkers of congenital obstructive nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chevalier RL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2016 Sep;31(9):1411-20.
|
||
Epub 2015 Dec 14
|
||
doi: 10.1007/s00467-015-3291-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26667236" target="_blank">26667236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25082300">Urinary and serum biomarkers in ureteropelvic junction obstruction: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papachristou F,
|
||
Pavlaki A,
|
||
Printza N</span><br />
|
||
<span class="medgenPMjournal">Biomarkers</span>
|
||
2014 Nov;19(7):531-40.
|
||
Epub 2014 Aug 1
|
||
doi: 10.3109/1354750X.2014.943292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25082300" target="_blank">25082300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24680152">Robotic laparoscopic pyeloplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chammas MF Jr,
|
||
Mitre AI,
|
||
Hubert N,
|
||
Egrot C,
|
||
Hubert J</span><br />
|
||
<span class="medgenPMjournal">JSLS</span>
|
||
2014 Jan-Mar;18(1):110-5.
|
||
doi: 10.4293/108680813X1369342251983.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24680152" target="_blank">24680152</a><a href="/pmc/articles/PMC3939324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19816385">Unilateral hydronephrosis due to ureteropelvic junction obstruction in children: long term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zampieri N,
|
||
Zamboni C,
|
||
Ottolenghi A,
|
||
Camoglio FS</span><br />
|
||
<span class="medgenPMjournal">Minerva Urol Nefrol</span>
|
||
2009 Dec;61(4):325-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19816385" target="_blank">19816385</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ureteropelvic%20junction%20obstruction%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 (417)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/35970740">Functional recoverability post-pyeloplasty in children with ureteropelvic junction obstruction and poorly functioning kidneys: Systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbas T,
|
||
Elifranji M,
|
||
Al-Salihi M,
|
||
Ahmad J,
|
||
Vallasciani S,
|
||
Elkadhi A,
|
||
Özcan C,
|
||
Burgu B,
|
||
Akinci A,
|
||
Alnaimi A,
|
||
Salle JLP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2022 Oct;18(5):616-628.
|
||
Epub 2022 Jul 21
|
||
doi: 10.1016/j.jpurol.2022.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35970740" target="_blank">35970740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31711468">Surgical approaches for treatment of ureteropelvic junction obstruction - a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uhlig A,
|
||
Uhlig J,
|
||
Trojan L,
|
||
Hinterthaner M,
|
||
von Hammerstein-Equord A,
|
||
Strauss A</span><br />
|
||
<span class="medgenPMjournal">BMC Urol</span>
|
||
2019 Nov 11;19(1):112.
|
||
doi: 10.1186/s12894-019-0544-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31711468" target="_blank">31711468</a><a href="/pmc/articles/PMC6849262" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28012005">Primary non-surgical management of unilateral ureteropelvic junction obstruction in children: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weitz M,
|
||
Schmidt M,
|
||
Laube G</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2017 Dec;32(12):2203-2213.
|
||
Epub 2016 Dec 23
|
||
doi: 10.1007/s00467-016-3566-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28012005" target="_blank">28012005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25082300">Urinary and serum biomarkers in ureteropelvic junction obstruction: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papachristou F,
|
||
Pavlaki A,
|
||
Printza N</span><br />
|
||
<span class="medgenPMjournal">Biomarkers</span>
|
||
2014 Nov;19(7):531-40.
|
||
Epub 2014 Aug 1
|
||
doi: 10.3109/1354750X.2014.943292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25082300" target="_blank">25082300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23856037">Robot-assisted and laparoscopic repair of ureteropelvic junction obstruction: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Autorino R,
|
||
Eden C,
|
||
El-Ghoneimi A,
|
||
Guazzoni G,
|
||
Buffi N,
|
||
Peters CA,
|
||
Stein RJ,
|
||
Gettman M</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
2014 Feb;65(2):430-52.
|
||
Epub 2013 Jul 4
|
||
doi: 10.1016/j.eururo.2013.06.053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23856037" target="_blank">23856037</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ureteropelvic%20junction%20obstruction%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 (28)</a></div></div>
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