Raras
Buscar doenças, sintomas, genes...
Displasia renal cística difusa
ORPHA:1851CID-10 · Q61.4CID-11 · LB30.9DOENÇA RARA

O rim displásico multicístico (MCDK) é uma anomalia congênita do rim e do trato urinário (CAKUT) na qual um ou ambos os rins (MCDK unilateral ou bilateral, respectivamente) são grandes, distendidos por múltiplos cistos e não funcionais.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

O rim displásico multicístico (MCDK) é uma anomalia congênita do rim e do trato urinário (CAKUT) na qual um ou ambos os rins (MCDK unilateral ou bilateral, respectivamente) são grandes, distendidos por múltiplos cistos e não funcionais.

Pesquisas ativas
2 ensaios
24 total registrados no ClinicalTrials.gov
Publicações científicas
638 artigos
Último publicado: 2026 Mar 28

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q61.4
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫘
Rins
3 sintomas
🫃
Digestivo
2 sintomas
🫁
Pulmão
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

90%prev.
Desconforto respiratório neonatal
Muito frequente (99-80%)
90%prev.
Displasia renal multicística
Muito frequente (99-80%)
55%prev.
Nascimento prematuro
Frequente (79-30%)
55%prev.
Distensão abdominal
Frequente (79-30%)
55%prev.
Massa abdominal
Frequente (79-30%)
17%prev.
Agenesia renal unilateral
Ocasional (29-5%)
15sintomas
Muito frequente (2)
Frequente (3)
Ocasional (5)
Muito raro (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.

Desconforto respiratório neonatalNeonatal respiratory distress
Muito frequente (99-80%)90%
Displasia renal multicísticaMulticystic kidney dysplasia
Muito frequente (99-80%)90%
Nascimento prematuroPremature birth
Frequente (79-30%)55%
Distensão abdominalAbdominal distention
Frequente (79-30%)55%
Massa abdominalAbdominal mass
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico638PubMed
Últimos 10 anos200publicações
Pico202138 papers
Linha do tempo
2026Hoje · 2026🧪 2009Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.

HNF1BHepatocyte nuclear factor 1-betaCandidate gene tested inAltamente restrito
FUNÇÃO

Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (6)
Nephron developmentRegulation of gene expression in early pancreatic precursor cellsRegulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cellsDevelopmental Lineage of Multipotent Pancreatic Progenitor CellsDevelopmental Lineage of Pancreatic Ductal Cells
MECANISMO DE DOENÇA

Renal cysts and diabetes syndrome

An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Medula
90.4 TPM
Rim - Córtex
53.5 TPM
Linfócitos
43.7 TPM
Pâncreas
23.0 TPM
Cólon transverso
14.9 TPM
OUTRAS DOENÇAS (11)
type 2 diabetes mellitusrenal cysts and diabetes syndromechromosome 17q12 deletion syndromerenal dysplasia, unilateral
HGNC:11630UniProt:P35680

Variantes genéticas (ClinVar)

534 variantes patogênicas registradas no ClinVar.

🧬 HNF1B: GRCh38/hg38 17q12(chr17:36466620-37948228)x3 ()
🧬 HNF1B: GRCh38/hg38 17q12(chr17:36466620-38248097)x1 ()
🧬 HNF1B: GRCh38/hg38 17q12(chr17:36121781-38214937)x3 ()
🧬 HNF1B: GRCh38/hg38 17q12(chr17:36466620-38254527)x1 ()
🧬 HNF1B: NM_000458.4(HNF1B):c.600T>G (p.Asp200Glu) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
1Fase 11
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Displasia renal cística difusa

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

24 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
235 papers (10 anos)
#1

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.

Cureus2026 Jan

Multicystic dysplastic kidney (MCDK) is a congenital renal anomaly identified on prenatal ultrasound. They often arise sporadically and unilaterally. Our case involves an isolated unilateral MCDK in a fetus born to a mother with generalized anxiety disorder (GAD), obsessive-compulsive disorder (OCD), and gastroesophageal reflux disease (GERD), with the father having chronic occupational lead exposure and a congenital disorder of glycosylation type 1A (PMM2-CDG). Our case highlights the multifactorial etiology of renal dysplasia and its potential role of glycosylation defects and environmental toxicity in abnormal kidney development. Contributions from genetic, environmental, and metabolic influences during nephrogenesis contribute to MCDK.

#2

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China.

American journal of medical genetics. Part A2026 Feb 22

To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty-five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing (CNV-seq) or chromosomal microarray analysis (CMA), and trio-exome sequencing (trio-ES), and received long-term follow-ups from 6 months to 7 years. The top five GU anomalies were hydronephrosis, renal agenesis, multicystic dysplastic kidney, genital cysts, and genital abnormalities. 4.77% (19/398) of chromosomal abnormalities were detected by karyotyping, and 39 CNVs were revealed in 354 cases by CNV-seq/CMA simultaneously, with 6.50% (23/354) of additional CNVs. Genetic abnormalities were more frequent in reproductive system anomalies, nonisolated, and multiple GU anomalies. Two of eight with pathogenic/likely pathogenic genes were additionally detected. Five hundred thirty-four pregnancy outcomes were obtained, including 418 (76.70%) live births with favorable outcomes, two (0.37%) intrauterine fetal deaths, and 114 (20.92%) terminations mainly due to genetic abnormalities or nonisolated anomalies. The fetuses with reproductive system anomalies, nonisolated, and multiple GU anomalies were associated with genetic abnormalities. Therefore, a closed-loop management strategy including "diagnosis-assessment-intervention-follow-up" should be provided for fetuses with GU anomalies from pregnancy to postpartum period.

#3

Outcomes of antenatal hydronephrosis and other renal abnormalities in a population-based cohort.

Acta obstetricia et gynecologica Scandinavica2026 Feb 15

Hydronephrosis, commonly detected during second trimester ultrasound screenings, can signal underlying renal abnormalities. In 2018, Sweden introduced a national guideline recommending follow-up for fetal renal pelves with an anteroposterior diameter (APD) ≥6 mm at the second trimester ultrasound. This study evaluates the impact of the guideline by assessing the incidence and resolution of hydronephrosis and other renal abnormalities. Secondary outcomes included postnatal renal function, frequency of febrile urinary tract infections (UTI), and the need for surgical intervention before the age of 2. This prospective cohort study included fetuses diagnosed with hydronephrosis or other renal abnormalities during second trimester ultrasounds between November 2019 and October 2022. Maternal and child characteristics were compared with data from the Swedish Pregnancy Register. Pre- and postnatal outcomes up to 2 years of age were assessed for fetuses detected antenatally. Outcomes were compared to children diagnosed postnatally within the first 2 years of life and not identified prenatally. Over 3 years, 31 094 second trimester ultrasounds were performed. Hydronephrosis or other renal anomalies were identified in 0.5% (n = 155); approximately 40% resolved by week 32, and seven additional third-trimester detections brought the total number of antenatal cases to 162. By age 2, only 42% had persistent renal abnormalities. A retrospective ICD-10 review identified 45 additional children diagnosed postnatally following symptoms before age 2, yielding an antenatal detection rate of 78.3% (162/207). Baseline demographics were similar between antenatal and postnatal groups and matched those in the Swedish Pregnancy Register. Antenatally detected cases showed diverse anomalies-primarily multicystic dysplastic kidney, duplex kidney, pelviureteric junction obstruction, and vesicoureteral reflux (VUR)-whereas postnatally detected cases were predominantly VUR. Febrile UTI requiring admission occurred in 11.8% of antenatal versus 71.7% of postnatal children (p < 0.0001); surgery rates were similar between groups. The centralized structure of care enabled a comprehensive, population-based cohort with near-complete follow-up. The detection rate of hydronephrosis during second trimester ultrasound is high, reaching ~80%. Given the high rate of spontaneous resolution, the national guideline threshold (APD ≥6 mm) appears to strike a reasonable balance between sensitivity and clinical practicality.

#4

Diagnostic accuracy of kidney ultrasound compared to mercaptoacetyltriglycine-3 scan in paediatric multicystic dysplastic kidney disease.

Pediatric nephrology (Berlin, Germany)2026 May

Multicystic dysplastic kidney disease (MCDK) is a congenital kidney anomaly frequently misdiagnosed as hydronephrosis on antenatal ultrasound. Confirmatory nuclear imaging is seldom available in resource-limited settings. The study aimed to assess the diagnostic accuracy of kidney ultrasound (KUB scan) for detecting paediatric MCDK, using Mercaptoacetyltriglycine-3 scan ([99mTc]Tc-MAG3) differential renal function as the reference standard. A retrospective diagnostic accuracy analysis of consecutive children under 13 years with suspected unilateral MCDK, who underwent both KUB and [99mTc]Tc-MAG3 scans within 6-8 weeks of presentation at Red Cross War Memorial Children's Hospital between January 2014 and December 2023 was done. Diagnosis required characteristic MCDK features on KUB and absent function on [99mTc]Tc-MAG3 scans. Reporting adhered to the STARD guidelines. Of 793 eligible children, the [99mTc]Tc-MAG3 classified 101/101 (100.0%) kidneys as non-functional. The KUB scan accurately identified 97/98 and demonstrated a sensitivity of 99.0% (95% CI: 95.6-99.9%), specificity of 99.9% (95% CI: 99.4-100.0%), PPV of 99.0% (CI: 95.6-99.9%), NPV of 99.9% (99.4-100.0%) and overall accuracy of 99.7% in comparison to [99mTc]Tc-MAG3. Cohen's kappa indicated substantial agreement (0.988), with an AUC of 0.995 (95% CI: 0.983-1.000). Three missing KUB reports were excluded; sensitivity analysis accounting for missing data did not alter these findings. Postnatal kidney ultrasound scan performs excellently in diagnosing paediatric MCDK in the South African context and obviates the need for confirmatory nuclear imaging. This has clinical practice implications for paediatric nephro-urology and supports its use as a primary diagnostic tool both in resource-limited and resource-sufficient settings.

#5

Mesonephric duct anomalies in unilateral multicystic dysplastic kidney: A two-center retrospective study.

Journal of pediatric urology2026 Feb

Unilateral multicystic dysplastic kidney (UMCDK) is a congenital anomaly detectable already in utero. The affected kidney is non-functioning. While the ureter is typically absent, UMCDK may rarely associate with mesonephric duct (MND) remnants such as ureterocele or ureteral stump. To determine the frequency, clinical implications, and management of ipsilateral MND anomalies in children with UMCDK under comprehensive prenatal and postnatal surveillance. Retrospective analysis of 349 children (0-19 years) with UMCDK, followed by pediatric nephrologists and/or urologists in two tertiary centers between 2005 and 2024, was performed. MND anomalies were classified as: - Type Ia: Orthotopic ureterocele; - Type Ib: Orthotopic ureterocele plus ureteral remnant (stump); - Type II: Ectopic ureteral remnant (stump); - Type III: Complex anomalies involving seminal vesicles/epididymis. Based on medical record and imaging result evaluation, twenty-five patients (7.2 %) with MND anomalies (21 males, 4 females) were identified. Of those, four males (16 %) developed clinical complications (lower urinary tract dysfunction, urinary tract infection (UTI), recurring epididymitis) at different age (3, 8, 12 and 16 years). These symptomatic cases involved Type Ib and Type III anomalies. Median age at diagnosis of MND anomalies was 2 months and median follow-up duration was 10.7 years. All patients had normal glomerular filtration rate (GFR) at the beginning of the observation period, however, two children developed stage 2 chronic kidney disease (CKD 2) until the end of the follow-up. UMCDK resolved spontaneously in 15 patients. MND anomalies regressed below the USG detection threshold only in 3 conservatively managed children (type Ia or Ib). Five patients with MND anomalies required surgical management: 3 children endoscopic incision of ureterocele and 2 children exstirpation of ureterocele with ureteral stump. MND anomalies in UMCDK are uncommon and mostly follow a benign course. Nevertheless, endoscopic or surgical intervention may be required due to late-onset complications, predominantly lower urinary tract dysfunction. Lifelong monitoring is suggested.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC291 artigos no totalmostrando 197

2026

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.

Cureus
2026

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China.

American journal of medical genetics. Part A
2026

When childhood anomalies grow up: adult-onset discovery of multicystic dysplastic kidney, a case report.

BMC nephrology
2026

Outcomes of antenatal hydronephrosis and other renal abnormalities in a population-based cohort.

Acta obstetricia et gynecologica Scandinavica
2025

Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome.

Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
2025

From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children.

BMC nephrology
2025

Prenatal diagnosis to postnatal outcomes in multicystic dysplastic kidney: experience of a tertiary center in the Black Sea region.

Revista da Associacao Medica Brasileira (1992)
2026

Diagnostic accuracy of kidney ultrasound compared to mercaptoacetyltriglycine-3 scan in paediatric multicystic dysplastic kidney disease.

Pediatric nephrology (Berlin, Germany)
2026

Mesonephric duct anomalies in unilateral multicystic dysplastic kidney: A two-center retrospective study.

Journal of pediatric urology
2025

Paediatric multicystic dysplastic kidney disease in Cape Town, South Africa.

BMC nephrology
2025

Prenatal imaging of upper urinary tract abnormalities: when is MRI useful?

Pediatric radiology
2025

Bilateral multicystic dysplastic kidney disease in a Fetus: A rare case with a fatal outcome.

Urology case reports
2025

Fetal Isolated Unilateral Multicystic Dysplastic Kidney Identified on Second Trimester Ultrasound: Genetic Investigation Results at a Single Referral Center.

Prenatal diagnosis
2025

Myelomeningocele in a newborn with VACTERL association.

Archivos argentinos de pediatria
2025

Postnatal Outcome of Prenatally Detected Renal Anomalies.

Journal of pharmacy &amp; bioallied sciences
2025

Diagnostic Value of Serum Periostin for Cyst Involution in Children with Multicystic Dysplastic Kidney.

Journal of clinical medicine
2025

Multicystic dysplastic kidneys (MCDK) during prenatal life and postnatal outcome.

Archives of gynecology and obstetrics
2025

Unilateral Multicystic Dysplastic Kidney in an Infant: A Case Report of Surgical Nephrectomy, Diagnostic Imaging, and Long-Term Outcomes.

Cureus
2025

Retroperitoneoscopic Vascular Hitch Procedure for Pelvi-Ureteric Junction Obstruction in Children-The Southampton Experience.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2025

Association Between Multicystic Dysplastic Kidney and the Local Renin-Angiotensin-Aldosterone System: A Pilot Study of a New Biomarker.

Nephrology (Carlton, Vic.)
2025

Research Progress on Risk Factors or Prediction Models for Ureteropelvic Junction Obstruction in Children.

Archivos espanoles de urologia
2025

Proximal Ureteral Atresia in a Caribbean Neonate With Multicystic Dysplastic Kidney.

Cureus
2025

Recurrent pelvi-ureteric junction obstruction due to eosinophilic pelvi-ureteritis.

BMJ case reports
2026

Abnormal parenchymal features in the contralateral kidney of patients with multicystic dysplastic kidney.

Pediatric nephrology (Berlin, Germany)
2025

Teratoid Wilms Tumor Masquerading as a Cystic Dysplastic Kidney: A Diagnostic Challenge.

Journal of pediatric hematology/oncology
2025

Co-occurrence of Peutz-Jeghers syndrome and unilateral multicystic dysplastic kidney: a case report.

BMC nephrology
2025

Different interventions for OHVIRA/Herlyn-Werner-Wunderlich syndrome based on age and symptoms: a single-institution cohort study.

BMC women's health
2025

Maternal Risk Factors for Infants Born with Congenital Renal and Urinary Tract (CAKUT) Anomalies: A Cross-Sectional Assessment.

Mymensingh medical journal : MMJ
2025

Clinical outcome of children with prenatally diagnosed isolated unilateral multicystic dysplastic kidney.

European journal of obstetrics, gynecology, and reproductive biology
2025

Morbidity in children with major kidney anomalies: a European population-based study.

European journal of pediatrics
2025

Complex genitourinary anomaly presenting in adolescence: should antenatal kidney abnormalities prompt future screening for Mullerian abnormalities?

BMJ case reports
2025

Prenatal diagnosis and postnatal outcomes of congenital kidney and urinary tract anomalies: results from a tertiary center.

BMC pregnancy and childbirth
2025

Genetic Rarity: The First Case Report of TMPRSS3 Mutation Coinciding with Multicystic Dysplastic Kidney.

Indian journal of nephrology
2025

Clinical outcomes and risk factors in pediatric patients with solitary functioning kidney: a comparative analysis of congenital and acquired etiologies.

Frontiers in pediatrics
2025

A Rare Case of Antenatal Bilateral Multicystic Dysplastic Kidney Disease: An Unusual Presentation in a Neonate.

Clinical case reports
2025

Clinical Characteristics and Outcomes of Children with Unilateral Multicystic Dysplastic Kidney: A Cohort Study.

Indian pediatrics
2025

Dermoid cyst associated with segmental multicystic renal dysplasia: A rare case.

Urology case reports
2025

Development and face validity testing of pyeloplasty surgical training models.

ANZ journal of surgery
2025

Retroperitoneoscopic surgical resection of a crossed ectopic non-functioning multicystic kidney associated with a severe ureteral dilation. A new surgical approach and literature review.

Urology case reports
2025

A rare case of nephroblastoma arising in a multicystic dysplastic kidney: a case report and review of the literature.

Journal of surgical case reports
2024

OHVIRA Syndrome and Ureteral Ectopy Draining in the Ipsilateral Hemiuterus, Diagnosed in the Prepubertal Age Group: Case-Report and Literature Review.

Medicina (Kaunas, Lithuania)
2024

Systemic hydroa vacciniforme lymphoproliferative disorder in a patient with chronic active EBV infection.

BMJ case reports
2025

Assessing masked hypertension and ambulatory arterial stiffness index in children congenital kidney malformations.

Clinical and experimental nephrology
2025

Breaking the Rules: Upper Pole Ureteropelvic Junction Obstruction Causing Massive Urinary Tract Dilation in a Neonate With Prenatal Diagnosis of Multicystic Dysplastic Kidney.

Urology
2024

Supporting Infants with Multicystic Dysplastic Kidney Disease: A Comprehensive Approach.

Neonatal network : NN
2025

Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.

European journal of human genetics : EJHG
2025

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

Annals of human genetics
2024

Multicystic dysplastic kidney in adults: A case report of unilateral presentation in an adult sudanese female.

Urology case reports
2024

Assessment of ureteric jets as a supportive diagnostic modality for unilateral pelvi-ureteric junction obstruction and its utility in follow-up: A pilot study.

Journal of pediatric urology
2024

Neglected congenital bilateral knee dislocation treated by quadricepsplasty with semitendinosus and sartorius transfer: A case report.

World journal of orthopedics
2024

Genetic and radiological aspects of pediatric renal cystic disease: A case series.

Biomedica : revista del Instituto Nacional de Salud
2024

Concurrent Cardiac and Renal Anomalies in Waardenburg Syndrome Type 1: A Report of a Rare Case.

Cureus
2024

Autopsy case of linear nevus sebaceous syndrome with KRAS (G12D) mutation.

Pathology international
2025

A case of chronic kidney disease with refractory periodic vomiting and hypertension in a pediatric patient.

CEN case reports
2024

Zinner syndrome in pediatric age group: An underdiagnosed entity.

Journal of pediatric urology
2024

Long-Term Outcomes, Including Fetal and Neonatal Prognosis, of Renal Oligohydramnios: A Retrospective Study over 22 Years.

The Journal of pediatrics
2024

A novel treatment strategy for bladder hypoplasia: A case of megaureter in a functional solitary kidney.

IJU case reports
2024

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review.

Children (Basel, Switzerland)
2024

Deep learning prediction of renal anomalies for prenatal ultrasound diagnosis.

Scientific reports
2024

Early diagnosis of solitary functioning kidney: comparing the prognosis of kidney agenesis and multicystic dysplastic kidney.

Pediatric nephrology (Berlin, Germany)
2024

How effective is nephrectomy in curing hypertension in children with unilateral poorly functioning kidney? A systematic review.

Pediatric surgery international
2024

Multicystic renal dysplasia, a histomorphological spectrum: Seven years experience from a tertiary care hospital.

Indian journal of pathology &amp; microbiology
2024

The Pathophysiology of Inherited Renal Cystic Diseases.

Genes
2024

Müllerian anomalies in girls with congenital solitary kidney.

Pediatric nephrology (Berlin, Germany)
2024

Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic kidney: a case report.

Journal of medical case reports
2024

A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10.

QJM : monthly journal of the Association of Physicians
2024

Outcome of children with multicystic dysplastic kidney: Does involved side matter?

Birth defects research
2024

Analysis of the Efficacy of Elastography in Comparison with Dynamic Renal Nuclear Scintigraphy in the Evaluation of Unilateral Pelvi-Ureteric Junction Obstruction.

Journal of pediatric surgery
2024

Troubleshooting Tips for Diagnosing Complex Fetal Genitourinary Malformations.

Radiographics : a review publication of the Radiological Society of North America, Inc
2024

A novel NONO nonsense variant in a fetus with renal abnormalities.

Prenatal diagnosis
2024

Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype-phenotype correlations.

American journal of obstetrics &amp; gynecology MFM
2024

Cajal-like cell morphometry is not associated with pelvi-ureteric junction obstruction in adults.

BJU international
2024

Hypertension in children with congenital anomalies of the kidney and urinary tract.

Pediatric nephrology (Berlin, Germany)
2023

Pilot Study on the Molecular Pathogenesis of Pyeloureteral Junction Obstruction: Underdevelopment or Fibrosis?

Medicina (Kaunas, Lithuania)
2023

A Case of Multicystic Dysplastic Kidney Presenting as a Single Midline Pelvic Cyst.

Case reports in nephrology and dialysis
2023

Morphometric variations of Cajal-like cells are associated with pelviureteric junction obstruction in children.

BJU international
2023

GFR measurements and ultrasound findings in 154 children with a congenital solitary functioning kidney.

Journal of pediatric urology
2023

McrD binds asymmetrically to methyl-coenzyme M reductase improving active-site accessibility during assembly.

Proceedings of the National Academy of Sciences of the United States of America
2024

Unilateral Multicystic Dysplastic Kidney Management: A National Survey.

Clinical pediatrics
2023

Laparoscopic versus open pyeloplasty in paediatric pelvi-ureteric junction obstruction.

Journal of paediatrics and child health
2023

The Outcome of Multicystic Dysplastic Kidney Disease Patients at King Abdulaziz Medical City in Riyadh.

Cureus
2023

Multicystic Dysplastic Kidney Disease: An In-Utero Diagnosis.

Cureus
2023

Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.

Experimental biology and medicine (Maywood, N.J.)
2023

Unilateral multicystic dysplastic kidney disease associated with ipsilateral ureteric bud remnant and contralateral duplex collecting system.

Radiology case reports
2023

Unusual association of Wilms' tumor with cystic diseases of kidney: A pathologic surprise.

Journal of cancer research and therapeutics
2023

Obstructed Hemivagina and Ipsilateral Renal Agenesis Syndrome in a Neonate.

Cureus
2023

Nephrolithiasis and Multicystic Kidneys in a Young Patient: A Quiz.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2023

Cystic kidney diseases in children.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2023

Ultrasonographic classification of 26 cases of fetal umbilical-portal-systemic venous shunts and the correlations with fetal chromosomal abnormalities.

BMC pregnancy and childbirth
2023

Fetal Nephrology: A Quaternary Care Center Experience.

Kidney360
2023

Management dilemma in pelvi-ureteric junction obstruction: is transit time the answer?

Pediatric surgery international
2023

Follow up of renal outcomes in children with solitary kidney.

Pediatrics international : official journal of the Japan Pediatric Society
2023

Management of non-functioning kidney due to pelvi-ureteric junction obstruction in pediatric age group: an observational study.

Pediatric surgery international
2023

Nephrectomy improves both antihypertensive requirement and left ventricular mass for pediatric renal hypertension.

Pediatric nephrology (Berlin, Germany)
2022

A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney.

Biomedicines
2023

Radiological and surgical correlation of pelviureteric junction obstruction in positional anomalies of the kidney in children.

Pediatric radiology
2023

Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2023

INDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2022

A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2022

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Journal of clinical medicine
2022

Differentiating pediatric cystic nephroma from common renal multicystic lesions: A case report.

Indian journal of pathology &amp; microbiology
2022

Associated Anomalies and Complications of Multicystic Dysplastic Kidney.

Pediatric reports
2023

A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl.

CEN case reports
2022

Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2022

NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.

European journal of medical genetics
2022

Laparoscopic and robot-assisted ureterocalicostomy for treatment of primary and recurrent pelvi-ureteric junction obstruction in children: a multicenter comparative study with laparoscopic and robot-assisted Anderson-Hynes pyeloplasty.

International urology and nephrology
2022

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.

Molecular cytogenetics
2022

Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology.

Pediatric nephrology (Berlin, Germany)
2022

[Enlarged multicystic dysplastic kidneys with oligohydramnios during infancy caused by NPHP3 gene mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Zinner syndrome: a rare diagnosis in infancy.

BMJ case reports
2022

Giant renal parapelvic cyst with pelvi-ureteric junction obstruction in an infant: challenges in diagnosis and laparoscopic management.

BMJ case reports
2022

Concurrent Multicystic Dysplastic Kidney, Posterior Urethral Valves, and Obstructive Ureterocele in a Male Pediatric Patient: A Case Report.

Urology
2022

OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly or Herlyn-Werner-Wunderlich syndrome): Is it time for age-specific management?

Journal of pediatric surgery
2022

Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound.

Prenatal diagnosis
2022

Factors influencing the development of Multicystic Dysplastic Kidney (MCDK) following urinary tract obstruction in the fetal lamb.

Pediatric surgery international
2022

Traumatic Kidney in a Patient With Unilateral Renal Cystic Disease.

Journal of investigative medicine high impact case reports
2022

Zinner syndrome in children: clinical presentation, imaging findings, diagnosis, and outcome.

Pediatric nephrology (Berlin, Germany)
2022

Cystic dysplasia of the rete testis associated with ipsilateral renal agenesis: A case report.

Radiology case reports
2022

Utility of renal scintigraphy in diagnosis of multicystic dysplastic kidney.

Journal of clinical ultrasound : JCU
2022

Evaluation of insertion/deletion (I/D) polymorphisms of ACE gene and circulating levels of angiotensin II in congenital anomalies of the kidney and urinary tract.

Molecular biology reports
2021

A New Case of Herlyn-Werner-Wunderlich Syndrome: Uterine Didelphys with Unilateral Cervical Dysgenesis, Vaginal Agenesis, Cervical Distal Ureteral Remnant Fistula, Ureterocele, and Renal Agenesis in a Patient with Contralateral Multicystic Dysplastic Kidney.

Diagnostics (Basel, Switzerland)
2022

Contemporary diagnosis and management of pelvi-ureteric junction obstruction.

BJU international
2021

Case Report: Uterine Anomalies in Girls With a Congenital Solitary Functioning Kidney.

Frontiers in pediatrics
2022

Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2021

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients.

Molecular syndromology
2021

Ultrasound and alternative multimodality imaging of intra-abdominal and pelvic cystic masses in the newborn.

Ultrasound (Leeds, England)
2021

Synchronous Development of Hemiscrotal Tissue in the Orthotopic and Ectopic Locations in Association with other Urological Anomalies.

Journal of Indian Association of Pediatric Surgeons
2022

Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS.

Fetal and pediatric pathology
2021

A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2022

Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2021

Neonatal multicystic dysplastic kidney with mass effect: A systematic review.

Journal of pediatric urology
2021

Multicystic dysplastic kidney.

American journal of obstetrics and gynecology
2022

The obstructive index in antenatal unilateral pelviureteric junction obstruction: A novel predictor of the failure of conservative management.

Pediatrics international : official journal of the Japan Pediatric Society
2020

Congenital Factor VII Deficiency in Association With Bicuspid Aortic Valve and Multicystic Dysplastic Kidney Disease in a Child.

Journal of medical cases
2021

Clinical Management of Children with a Congenital Solitary Functioning Kidney: Overview and Recommendations.

European urology open science
2021

Unilateral polycystic kidney disease.

Kidney international
2021

Segmental multicystic dysplastic kidney: Two case reports.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Reducing Unnecessary Imaging in Children With Multicystic Dysplastic Kidney or Solitary Kidney.

Pediatrics
2021

Comparison between prepubertal and postpubertal patients with obstructed hemivagina and ipsilateral renal anomaly syndrome.

Journal of pediatric urology
2021

Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.

Clinical genetics
2021

Spontaneous intraperitoneal renal rupture with urinoma formation in the fetus.

Urology case reports
2022

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2021

Minor dysmorphic features in a patient with papillorenal syndrome: A Case Report.

JPMA. The Journal of the Pakistan Medical Association
2021

Hybrid Retroperitoneoscopic Pyeloplasty for Congenital Ureteropelvic Junction Obstruction in Infants Weighing Less than 10 kg.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2021

Postnatal outcome of prenatally-detected "simple" renal cysts: Are they really simple?

Early human development
2021

Outcomes of solitary functioning kidneys-renal agenesis is different than multicystic dysplastic kidney disease.

Pediatric nephrology (Berlin, Germany)
2021

Posterior Urethral Valve and Prenataly Resolved Multicystic Dysplastic Kidney.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2021

Laparoscopic transposition for crossing vessels (vascular hitch) in pure extrinsic pelvic-ureteric junction obstruction: a successful case report of a 2-year-old infant with horseshoe kidney.

Surgical case reports
2021

Predictors of poor neonatal outcomes in fetuses diagnosed with congenital urinary tract anomalie.

Ginekologia polska
2021

Crossed unfused renal ectopia with pelviureteric junction obstruction associated with nephrolithiasis: a rare troublesome triad managed by robotic surgery.

BMJ case reports
2021

A Newborn with Retrovesical Cysts and an Ipsilateral Multicystic Dysplastic Kidney.

Urology
2021

Expression Pattern of α-Tubulin, Inversin and Its Target Dishevelled-1 and Morphology of Primary Cilia in Normal Human Kidney Development and Diseases.

International journal of molecular sciences
2022

Cytogenomic aberrations in isolated multicystic dysplastic kidney in children.

Pediatric research
2021

Renal function in children with a congenital solitary functioning kidney: A systematic review.

Journal of pediatric urology
2021

Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report.

BMC nephrology
2021

Retrospective evaluation of the pediatric multicystic dysplastic kidney patients: experience of two centers from southeastern Turkey.

Turkish journal of medical sciences
2022

Vascular hitch for paediatric pelvi-ureteric junction obstruction with crossing vessels: institutional analysis and systematic review with meta-analysis.

BJU international
2021

Prenatal diagnosis and outcome of unilateral multicystic kidney.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2021

Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2021

Multicystic Dysplastic Kidney: Prenatal Compensatory Renal Growth Pattern.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2021

Multicystic Dysplastic Kidney With Mass Effect in a Neonate Treated With Nephrectomy: Case Report.

Urology
2020

The Spectrum of Renal Pathologies in Saudi Pediatrics Patients Using Ultrasound.

Pakistan journal of biological sciences : PJBS
2020

Imaging of fetal cystic kidney disease: multicystic dysplastic kidney versus renal cystic dysplasia.

Pediatric radiology
2021

Renal growth slope in children with congenital and acquired solitary functioning kidneys.

Ultrasonography (Seoul, Korea)
2021

Sequence variants in the renin-angiotensin system genes are associated with isolated multicystic dysplastic kidney in children.

Pediatric research
2020

Clinical characteristics of children with congenital anomalies of the kidney and urinary tract and predictive factors of chronic kidney disease.

The Turkish journal of pediatrics
2021

Screening of renal anomalies in first-degree relatives of children diagnosed with non-syndromic congenital anomalies of kidney and urinary tract.

Clinical and experimental nephrology
2021

Seminal Vesicle Cysts With Upper Urinary Tract Abnormalities: A Single-center Case Series of Pediatric Zinner Syndrome.

Urology
2021

Renal cystic diseases during the perinatal and neonatal period.

Journal of neonatal-perinatal medicine
2020

High Activation of the AKT Pathway in Human Multicystic Renal Dysplasia.

Pathobiology : journal of immunopathology, molecular and cellular biology
2020

TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.

Molecular genetics &amp; genomic medicine
2020

A comparison between short- and long-term D-J stent in Anderson-Hynes pyeloplasty for pelvi-ureteric junction obstruction.

Pediatric surgery international
2020

"Watch and Wait" Strategy for Multicystic Dysplastic Kidney (MCDK): Status Survey of Perceptions, Attitudes, and Treatment Selection in Chinese Pediatric Urologists and Pediatric Surgeons.

Frontiers in pediatrics
2020

Urine hepcidin, netrin-1, neutrophil gelatinase-associated lipocalin and C-C motif chemokine ligand 2 levels in multicystic dysplastic kidney.

Jornal brasileiro de nefrologia
2020

Expansion of Human iPSC-Derived Ureteric Bud Organoids with Repeated Branching Potential.

Cell reports
2020

[Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies].

Klinische Padiatrie
2020

Our experience with laparoscopic Anderson-Hynes ureteropyeloplasty.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2020

Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney-urinary tract in pediatric Turner syndrome.

Congenital anomalies
2021

Robot-assisted laparoscopic pyeloplasty (RALP) in children with complex pelvi-ureteric junction obstruction (PUJO): results of a multicenter European report.

World journal of urology
2020

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.

European journal of medical genetics
2020

Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography.

Prenatal diagnosis
2019

Guidelines of the Italian Society of Videosurgery in Infancy for the minimally invasive treatment of pediatric nephrectomy and partial nephrectomy.

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2020

Cortical transit time: understanding utility and pitfalls in children with pelviureteric junction obstruction.

Journal of pediatric urology
2020

The dilemma of micturating cystourethrogram for congenital solitary kidney.

Pediatric nephrology (Berlin, Germany)
2020

Voiding Cystourethrogram in Children With Unilateral Multicystic Dysplastic Kidney: Is It Still necessary?

Urology
2020

Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion.

Molecular syndromology
2020

Multicystic dysplastic kidney - treat each case on its merits.

Journal of pediatric surgery
2020

Renal dysplasia masquerading as a renal mass in a child on hemodialysis.

Hemodialysis international. International Symposium on Home Hemodialysis
2019

Late occurrence of pelvi-ureteric junction obstruction in renal allograft and live-related kidney donor.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
2020

Diagnosis, management, and outcome of obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome): Is there a correlation between MRI findings and outcome?

Clinical imaging
2020

Re: A Meta-Analysis of the Incidence and Fate of Contralateral Vesicoureteral Reflux in Unilateral Multicystic Dysplastic Kidney.

The Journal of urology
2020

Re: Evidence-Based Treatment of Multicystic Dysplastic Kidney: A Systematic Review.

The Journal of urology
2020

[Pelviureteric junction obstruction and crossing vessels: pro "vascular hitch"].

Aktuelle Urologie
2019

[Prenatal diagnosis of multicystic dysplastic kidney: about 18 cases].

The Pan African medical journal
2019

Laparoscopic transposition of lower pole crossing vessels in children with extrinsic pelvi-ureteric junction obstruction: a worthy alternative to dismembered pyeloplasty.

Journal of biological regulators and homeostatic agents
2019

Clinical course of a pediatric series of multicystic dysplastic kidney.

Journal of biological regulators and homeostatic agents
2019

Introduction to the special issue: "Focus on pediatric nephrology".

Journal of biological regulators and homeostatic agents
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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.
    Cureus· 2026· PMID 41769605mais citado
  2. Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China.
    American journal of medical genetics. Part A· 2026· PMID 41724599mais citado
  3. Outcomes of antenatal hydronephrosis and other renal abnormalities in a population-based cohort.
    Acta obstetricia et gynecologica Scandinavica· 2026· PMID 41693016mais citado
  4. Diagnostic accuracy of kidney ultrasound compared to mercaptoacetyltriglycine-3 scan in paediatric multicystic dysplastic kidney disease.
    Pediatric nephrology (Berlin, Germany)· 2026· PMID 41353677mais citado
  5. Mesonephric duct anomalies in unilateral multicystic dysplastic kidney: A two-center retrospective study.
    Journal of pediatric urology· 2026· PMID 41320579mais citado
  6. DICER1-mutated renal neoplasia: A series of 5 cases demonstrating the spectrum of cystic nephroma, Wilms tumor, and anaplastic sarcoma.
    Hum Pathol· 2026· PMID 41905669recente
  7. When childhood anomalies grow up: adult-onset discovery of multicystic dysplastic kidney, a case report.
    BMC Nephrol· 2026· PMID 41723365recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1851(Orphanet)
  2. MONDO:0015988(MONDO)
  3. GARD:18748(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q6934642(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Displasia renal cística difusa
Compêndio · Raras BR

Displasia renal cística difusa

ORPHA:1851 · MONDO:0015988
Prevalência
Unknown
Herança
Not applicable
CID-10
Q61.4 · Displasia renal
CID-11
Ensaios
2 ativos
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0345335
EuropePMC
Wikidata
Wikipedia
Papers 10a
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