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<meta name="keywords" content="C1609433, bilateral congenital absence of kidneys, bilateral renal agenesis, bilateral renal aplasia, bra - bilateral renal agenesis, congenital abnormality, congenital absence of kidneys syndrome, disease or syndrome, hereditary renal agenesis, potter syndrome, renal agenesis, renal agenesis syndrome, renal agenesis, bilateral, renofacial syndrome, urogenital adysplasia, hereditary, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A bilateral form of agenesis of the kidney." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Bilateral renal agenesis (Concept Id: C1609433)
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<!--
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UID=296299
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ConceptID=C1609433
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bilateral renal agenesis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>296299</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:">C1609433</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hereditary renal agenesis; Potter Syndrome; Renal agenesis; Urogenital adysplasia, hereditary</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>BRA - Bilateral renal agenesis (41962002); Bilateral congenital absence of kidneys (41962002); Renofacial syndrome (41962002); Renal agenesis syndrome (41962002); Congenital absence of kidneys syndrome (41962002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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:0010958">HP:0010958</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015986" target="_blank">MONDO:0015986</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1848">ORPHA1848</a></td></tr></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">A bilateral form of agenesis of the kidney. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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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>
|
||
<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">Bilateral renal agenesis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/472904" ref="tree=MeSH" title="MedGen record for Congenital malformation of the urinary system">Congenital malformation of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/154237" ref="tree=MeSH" title="MedGen record for Renal agenesis">Renal agenesis</a></span><ul><li><span class="matched_ds">Bilateral renal agenesis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_301437"><div><strong>Renal hypodysplasia/aplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301437</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.">C1619700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). Genetic Heterogeneity of Renal Hypodysplasia/Aplasia See also RHDA2 (615721), caused by mutation in the FGF20 gene (605558) on chromosome 8p22; RHDA3 (617805), caused by mutation in the GREB1L gene (617782) on chromosome 18q11; and RHDA4 (619887), caused by mutation in the GFRA1 gene (601496) on chromosome 10q25.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816689"><div><strong>Renal hypodysplasia/aplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816689</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.">C3810359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816689">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864138"><div><strong>Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864138</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.">C4015701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic developmental defect during embryogenesis malformation syndrome with characteristics of intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864138">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1624349"><div><strong>Fraser syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1624349</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.">C4540036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1624349">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621907"><div><strong>Fraser syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621907</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.">C4540040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621907">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641618"><div><strong>Microcephaly 20, primary, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641618</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.">C4693572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1709064"><div><strong>Vertebral, cardiac, renal, and limb defects syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1709064</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.">C5394250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac, renal, vertebral, and limb anomalies are common, mimicking the clinical features described in VACTERL association. Congenital heart defects can include left-sided heart lesions, right-sided heart lesions, or both. Almost all surviving individuals have short stature, many with disproportionately shortened limbs. Vertebral anomalies, including hemivertebrae and vertebral fusion, occur frequently, often with rib anomalies. Renal anomalies may be severe, including dysplasia/hypoplasia and renal agenesis. Developmental delay / intellectual disability has been reported in more than half of affected individuals, although some affected individuals have had normal development, and some individuals succumbed to their congenital anomalies before developmental assessment could be performed. Other less common features may include cleft palate, eye anomalies, sensorineural hearing loss, tracheoesophageal fistula, polysplenia, anteriorly displaced anus, tethered spinal cord, cystic hygroma, epilepsy, hypothyroidism, and hypoparathyroidism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1709064">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778926"><div><strong>Neurofacioskeletal syndrome with or without renal agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778926</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.">C5543070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes. Renal agenesis, unilateral or bilateral, has also been observed in some patients (Schneeberger et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778926">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808595"><div><strong>Renal hypodysplasia/aplasia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808595</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.">C5676993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Renal hypodysplasia/aplasia-4 (RHDA4) is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin, as well as limb contractures and joint dislocations in some patients (Arora et al., 2021; Al-Shamsi et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of renal hypoplasia/dysplasia, see RHDA1 (191830).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808595">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841013"><div><strong>Neurooculorenal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841013</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.">C5830377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder with highly variable clinical manifestations involving several organ systems. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life, whereas others present in infancy with a neurodevelopmental disorder characterized by global developmental delay and dysmorphic facial features that may be associated with congenital anomalies of the kidney and urinary tract (CAKUT). Additional more variable features may include ocular anomalies, most commonly strabismus, congenital heart defects, and pituitary hormone deficiency. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain. There is variation in the severity, manifestations, and expressivity of the phenotype, even within families (Rasmussen et al., 2018; Munch et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841013">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1624349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 20, primary, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofacioskeletal syndrome with or without renal agenesis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurooculorenal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_301437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypodysplasia/aplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypodysplasia/aplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypodysplasia/aplasia 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1709064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral, cardiac, renal, and limb defects syndrome 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/32533284">Prenatal ultrasound diagnosis of duplication gallbladder: a multicenter study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Meglio L,
|
||
Toscano P,
|
||
Saccone G,
|
||
Di Meglio L,
|
||
Mazzarelli LL,
|
||
Zullo F,
|
||
Raffone A,
|
||
Travaglino A,
|
||
Locci M,
|
||
Di Meglio A</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2020 Aug;302(2):377-382.
|
||
Epub 2020 Jun 12
|
||
doi: 10.1007/s00404-020-05641-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32533284" target="_blank">32533284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32003482">Etiology and management of early pregnancy renal anhydramnios: Is there a place for serial amnioinfusions?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jelin AC,
|
||
Sagaser KG,
|
||
Forster KR,
|
||
Ibekwe T,
|
||
Norton ME,
|
||
Jelin EB</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Apr;40(5):528-537.
|
||
Epub 2020 Feb 19
|
||
doi: 10.1002/pd.5658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32003482" target="_blank">32003482</a><a href="/pmc/articles/PMC7780162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31098643">Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber C,
|
||
Shazly SA,
|
||
Blumenfeld YJ,
|
||
Jelin E,
|
||
Ruano R</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Surv</span>
|
||
2019 May;74(5):298-302.
|
||
doi: 10.1097/OGX.0000000000000670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31098643" target="_blank">31098643</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bilateral%20renal%20agenesis%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 (17)</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/38997547">Bilateral renal agenesis: fetal intervention and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones K,
|
||
Keiser AM,
|
||
Miller JL,
|
||
Atkinson MA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2025 Feb;40(2):329-338.
|
||
Epub 2024 Jul 13
|
||
doi: 10.1007/s00467-024-06449-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38997547" target="_blank">38997547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38521421">Palliative Care for Pediatric Urology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li O,
|
||
Lee R,
|
||
Boss RD,
|
||
Wang MH</span><br />
|
||
<span class="medgenPMjournal">J Pain Symptom Manage</span>
|
||
2024 Jul;68(1):e1-e7.
|
||
Epub 2024 Mar 22
|
||
doi: 10.1016/j.jpainsymman.2024.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38521421" target="_blank">38521421</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38051327">Neonatal Survival After Serial Amnioinfusions for Bilateral Renal Agenesis: The Renal Anhydramnios Fetal Therapy Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller JL,
|
||
Baschat AA,
|
||
Rosner M,
|
||
Blumenfeld YJ,
|
||
Moldenhauer JS,
|
||
Johnson A,
|
||
Schenone MH,
|
||
Zaretsky MV,
|
||
Chmait RH,
|
||
Gonzalez JM,
|
||
Miller RS,
|
||
Moon-Grady AJ,
|
||
Bendel-Stenzel E,
|
||
Keiser AM,
|
||
Avadhani R,
|
||
Jelin AC,
|
||
Davis JM,
|
||
Warren DS,
|
||
Hanley DF,
|
||
Watkins JA,
|
||
Samuels J,
|
||
Sugarman J,
|
||
Atkinson MA</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Dec 5;330(21):2096-2105.
|
||
doi: 10.1001/jama.2023.21153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38051327" target="_blank">38051327</a><a href="/pmc/articles/PMC10698620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29215523">Ethical Considerations Concerning Amnioinfusions for Treating Fetal Bilateral Renal Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sugarman J,
|
||
Anderson J,
|
||
Baschat AA,
|
||
Herrera Beutler J,
|
||
Bienstock JL,
|
||
Bunchman TE,
|
||
Desai NM,
|
||
Gates E,
|
||
Goldberg A,
|
||
Grimm PC,
|
||
Henry LM,
|
||
Jelin EB,
|
||
Johnson E,
|
||
Hertenstein CB,
|
||
Mastroianni AC,
|
||
Mercurio MR,
|
||
Neu A,
|
||
Nogee LM,
|
||
Polzin WJ,
|
||
Ralston SJ,
|
||
Ramus RM,
|
||
Singleton MK,
|
||
Somers MJG,
|
||
Wang KC,
|
||
Boss R</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2018 Jan;131(1):130-134.
|
||
doi: 10.1097/AOG.0000000000002416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29215523" target="_blank">29215523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/857212">Prenatal diagnosis of bilateral renal agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaffe S,
|
||
Godmilow L,
|
||
Walker BA,
|
||
Hirschhorn K</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
1977 Apr;49(4):478-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/857212" target="_blank">857212</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20renal%20agenesis%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 (80)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38997547">Bilateral renal agenesis: fetal intervention and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones K,
|
||
Keiser AM,
|
||
Miller JL,
|
||
Atkinson MA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2025 Feb;40(2):329-338.
|
||
Epub 2024 Jul 13
|
||
doi: 10.1007/s00467-024-06449-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38997547" target="_blank">38997547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38180355">The genetic etiologies of bilateral renal agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirschen GW,
|
||
Blakemore K,
|
||
Al-Kouatly HB,
|
||
Fridkis G,
|
||
Baschat A,
|
||
Gearhart J,
|
||
Jelin AC</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2024 Feb;44(2):205-221.
|
||
Epub 2024 Jan 5
|
||
doi: 10.1002/pd.6516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38180355" target="_blank">38180355</a><a href="/pmc/articles/PMC10932914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31098643">Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber C,
|
||
Shazly SA,
|
||
Blumenfeld YJ,
|
||
Jelin E,
|
||
Ruano R</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Surv</span>
|
||
2019 May;74(5):298-302.
|
||
doi: 10.1097/OGX.0000000000000670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31098643" target="_blank">31098643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7636954">The early prenatal diagnosis of bilateral renal agenesis using transvaginal sonography and color Doppler ultrasonography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mackenzie FM,
|
||
Kingston GO,
|
||
Oppenheimer L</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
1994 Jan;13(1):49-51.
|
||
doi: 10.7863/jum.1994.13.1.49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7636954" target="_blank">7636954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18864641">Antemortem diagnosis of bilateral renal agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GUNTER JU,
|
||
OSER FS</span><br />
|
||
<span class="medgenPMjournal">N C Med J</span>
|
||
1948 Jun;9(6):307-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18864641" target="_blank">18864641</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20renal%20agenesis%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 (120)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38997547">Bilateral renal agenesis: fetal intervention and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones K,
|
||
Keiser AM,
|
||
Miller JL,
|
||
Atkinson MA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2025 Feb;40(2):329-338.
|
||
Epub 2024 Jul 13
|
||
doi: 10.1007/s00467-024-06449-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38997547" target="_blank">38997547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38547384">Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karim JN,
|
||
Di Mascio D,
|
||
Roberts N,
|
||
Papageorghiou AT;
|
||
ACCEPTS study</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2024 Jul;64(1):15-27.
|
||
doi: 10.1002/uog.27649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38547384" target="_blank">38547384</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38051327">Neonatal Survival After Serial Amnioinfusions for Bilateral Renal Agenesis: The Renal Anhydramnios Fetal Therapy Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller JL,
|
||
Baschat AA,
|
||
Rosner M,
|
||
Blumenfeld YJ,
|
||
Moldenhauer JS,
|
||
Johnson A,
|
||
Schenone MH,
|
||
Zaretsky MV,
|
||
Chmait RH,
|
||
Gonzalez JM,
|
||
Miller RS,
|
||
Moon-Grady AJ,
|
||
Bendel-Stenzel E,
|
||
Keiser AM,
|
||
Avadhani R,
|
||
Jelin AC,
|
||
Davis JM,
|
||
Warren DS,
|
||
Hanley DF,
|
||
Watkins JA,
|
||
Samuels J,
|
||
Sugarman J,
|
||
Atkinson MA</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Dec 5;330(21):2096-2105.
|
||
doi: 10.1001/jama.2023.21153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38051327" target="_blank">38051327</a><a href="/pmc/articles/PMC10698620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35918190">Design and Protocol of the Renal Anhydramnios Fetal Therapy (RAFT) Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atkinson MA,
|
||
Jelin EB,
|
||
Baschat A,
|
||
Blumenfeld YJ,
|
||
Chmait RH,
|
||
O'Hare E,
|
||
Moldenhauer JS,
|
||
Zaretsky MV,
|
||
Miller RS,
|
||
Ruano R,
|
||
Gonzalez JM,
|
||
Johnson A,
|
||
Mould WA,
|
||
Davis JM,
|
||
Hanley DF,
|
||
Keiser AM,
|
||
Rosner M,
|
||
Miller JL</span><br />
|
||
<span class="medgenPMjournal">Clin Ther</span>
|
||
2022 Aug;44(8):1161-1171.
|
||
Epub 2022 Jul 30
|
||
doi: 10.1016/j.clinthera.2022.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35918190" target="_blank">35918190</a><a href="/pmc/articles/PMC9847373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32003482">Etiology and management of early pregnancy renal anhydramnios: Is there a place for serial amnioinfusions?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jelin AC,
|
||
Sagaser KG,
|
||
Forster KR,
|
||
Ibekwe T,
|
||
Norton ME,
|
||
Jelin EB</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Apr;40(5):528-537.
|
||
Epub 2020 Feb 19
|
||
doi: 10.1002/pd.5658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32003482" target="_blank">32003482</a><a href="/pmc/articles/PMC7780162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20renal%20agenesis%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37254584">Renal agenesis: A meta-analysis of its prevalence and clinical characteristics based on 15 641 184 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plutecki D,
|
||
Kozioł T,
|
||
Bonczar M,
|
||
Ostrowski P,
|
||
Skorupa A,
|
||
Matejuk S,
|
||
Walocha J,
|
||
Pękala J,
|
||
Musiał A,
|
||
Pasternak A,
|
||
Koziej M</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2023 Oct;28(10):525-533.
|
||
Epub 2023 May 30
|
||
doi: 10.1111/nep.14190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37254584" target="_blank">37254584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31098643">Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber C,
|
||
Shazly SA,
|
||
Blumenfeld YJ,
|
||
Jelin E,
|
||
Ruano R</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Surv</span>
|
||
2019 May;74(5):298-302.
|
||
doi: 10.1097/OGX.0000000000000670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31098643" target="_blank">31098643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15001131">Fetal renal impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanderheyden T,
|
||
Kumar S,
|
||
Fisk NM</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2003 Aug;8(4):279-89.
|
||
doi: 10.1016/S1084-2756(03)00022-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15001131" target="_blank">15001131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11002883">Special imaging casebook. Oligohydramnios sequence with bilateral renal agenesis (Potter's syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herman TE,
|
||
Siegel MJ</span><br />
|
||
<span class="medgenPMjournal">J Perinatol</span>
|
||
2000 Sep;20(6):397-8.
|
||
doi: 10.1038/sj.jp.7200222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11002883" target="_blank">11002883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4744207">Familial bilateral renal agenesis and hereditary renal adysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchta RM,
|
||
Viseskul C,
|
||
Gilbert EF,
|
||
Sarto GE,
|
||
Opitz JM</span><br />
|
||
<span class="medgenPMjournal">Z Kinderheilkd</span>
|
||
1973 Aug 31;115(2):111-29.
|
||
doi: 10.1007/BF00440537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4744207" target="_blank">4744207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20renal%20agenesis%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37254584">Renal agenesis: A meta-analysis of its prevalence and clinical characteristics based on 15 641 184 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plutecki D,
|
||
Kozioł T,
|
||
Bonczar M,
|
||
Ostrowski P,
|
||
Skorupa A,
|
||
Matejuk S,
|
||
Walocha J,
|
||
Pękala J,
|
||
Musiał A,
|
||
Pasternak A,
|
||
Koziej M</span><br />
|
||
<span class="medgenPMjournal">Nephrology (Carlton)</span>
|
||
2023 Oct;28(10):525-533.
|
||
Epub 2023 May 30
|
||
doi: 10.1111/nep.14190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37254584" target="_blank">37254584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35918190">Design and Protocol of the Renal Anhydramnios Fetal Therapy (RAFT) Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atkinson MA,
|
||
Jelin EB,
|
||
Baschat A,
|
||
Blumenfeld YJ,
|
||
Chmait RH,
|
||
O'Hare E,
|
||
Moldenhauer JS,
|
||
Zaretsky MV,
|
||
Miller RS,
|
||
Ruano R,
|
||
Gonzalez JM,
|
||
Johnson A,
|
||
Mould WA,
|
||
Davis JM,
|
||
Hanley DF,
|
||
Keiser AM,
|
||
Rosner M,
|
||
Miller JL</span><br />
|
||
<span class="medgenPMjournal">Clin Ther</span>
|
||
2022 Aug;44(8):1161-1171.
|
||
Epub 2022 Jul 30
|
||
doi: 10.1016/j.clinthera.2022.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35918190" target="_blank">35918190</a><a href="/pmc/articles/PMC9847373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35246978">A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Hamed MH,
|
||
Altuwaijri N,
|
||
Alsahan N,
|
||
Ali W,
|
||
Abdulwahab F,
|
||
Alzahrani F,
|
||
Majrashi N,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Jul;102(1):61-65.
|
||
Epub 2022 Mar 22
|
||
doi: 10.1111/cge.14128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35246978" target="_blank">35246978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35005812">Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordan P,
|
||
Dorval G,
|
||
Arrondel C,
|
||
Morinière V,
|
||
Tournant C,
|
||
Audrezet MP,
|
||
Michel-Calemard L,
|
||
Putoux A,
|
||
Lesca G,
|
||
Labalme A,
|
||
Whalen S,
|
||
Loeuillet L,
|
||
Martinovic J,
|
||
Attie-Bitach T,
|
||
Bessières B,
|
||
Schaefer E,
|
||
Scheidecker S,
|
||
Lambert L,
|
||
Beneteau C,
|
||
Patat O,
|
||
Boute-Benejean O,
|
||
Molin A,
|
||
Guimiot F,
|
||
Fontanarosa N,
|
||
Nizon M,
|
||
Lefebvre M,
|
||
Jeanpierre C,
|
||
Saunier S,
|
||
Heidet L</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2022 Mar;43(3):347-361.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1002/humu.24324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35005812" target="_blank">35005812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14745934">Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashiwagi M,
|
||
Chaoui R,
|
||
Stallmach T,
|
||
Hürlimann S,
|
||
Lauper U,
|
||
Hebisch G</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res A Clin Mol Teratol</span>
|
||
2003 Nov;67(11):951-2.
|
||
doi: 10.1002/bdra.10101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14745934" target="_blank">14745934</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20renal%20agenesis%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 (33)</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/38547384">Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karim JN,
|
||
Di Mascio D,
|
||
Roberts N,
|
||
Papageorghiou AT;
|
||
ACCEPTS study</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2024 Jul;64(1):15-27.
|
||
doi: 10.1002/uog.27649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38547384" target="_blank">38547384</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30897573">Amnioinfusions to Treat Early Onset Anhydramnios Caused by Renal Anomalies: Background and Rationale for the Renal Anhydramnios Fetal Therapy Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Hare EM,
|
||
Jelin AC,
|
||
Miller JL,
|
||
Ruano R,
|
||
Atkinson MA,
|
||
Baschat AA,
|
||
Jelin EB</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2019;45(6):365-372.
|
||
Epub 2019 Mar 21
|
||
doi: 10.1159/000497472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30897573" target="_blank">30897573</a><a href="/pmc/articles/PMC8577736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20renal%20agenesis%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 (2)</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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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bilateral%20renal%20agenesis%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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