Raras
Buscar doenças, sintomas, genes...
Displasia renal
ORPHA:93108CID-10 · Q61.4CID-11 · LB30.1DOENÇA RARA

A displasia renal é uma forma de malformação renal em que os rins estão presentes, mas seu desenvolvimento é anormal e incompleto. A displasia renal pode ser unilateral ou bilateral, segmentar e de gravidade variável, com aplasia renal correspondendo à displasia extrema.

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Introdução

O que você precisa saber de cara

📋

A displasia renal é uma forma de malformação renal em que os rins estão presentes, mas seu desenvolvimento é anormal e incompleto. A displasia renal pode ser unilateral ou bilateral, segmentar e de gravidade variável, com aplasia renal correspondendo à displasia extrema.

Pesquisas ativas
2 ensaios
25 total registrados no ClinicalTrials.gov
Publicações científicas
1.403 artigos
Último publicado: 2026 Apr 16

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
Europe
Início
All ages
+ antenatal
🏥
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

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Sinais e sintomas

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

Partes do corpo afetadas

🫘
Rins
13 sintomas
🫃
Digestivo
2 sintomas
❤️
Coração
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

55%prev.
Anormalidade funcional da bexiga
Frequente (79-30%)
55%prev.
Morfologia anormal do cálice renal
Frequente (79-30%)
55%prev.
Morfologia anormal de néfrons
Frequente (79-30%)
55%prev.
Hipoplasia/aplasia renal
Frequente (79-30%)
55%prev.
Doença renal crônica
Frequente (79-30%)
55%prev.
Displasia renal multicística
Frequente (79-30%)
28sintomas
Frequente (7)
Ocasional (19)
Muito raro (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.

Anormalidade funcional da bexigaFunctional abnormality of the bladder
Frequente (79-30%)55%
Morfologia anormal do cálice renalAbnormal renal calyx morphology
Frequente (79-30%)55%
Morfologia anormal de néfronsAbnormal nephron morphology
Frequente (79-30%)55%
Hipoplasia/aplasia renalRenal hypoplasia/aplasia
Frequente (79-30%)55%
Doença renal crônicaChronic kidney disease
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.403PubMed
Últimos 10 anos200publicações
Pico202551 papers
Linha do tempo
2026Hoje · 2026🧪 2000Primeiro ensaio clínico📈 2025Ano 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: Autosomal dominant, 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

Classificação de variantes (ClinVar)

Distribuição de 146 variantes classificadas pelo ClinVar.

7
139
Patogênica (4.8%)
VUS (95.2%)
VARIANTES MAIS SIGNIFICATIVAS
BICC1: NM_001080512.3(BICC1):c.2840G>A (p.Arg947His) [Conflicting classifications of pathogenicity]
BICC1: NM_001080512.3(BICC1):c.2380T>A (p.Ser794Thr) [Uncertain significance]
BICC1: NM_001080512.3(BICC1):c.701C>T (p.Thr234Met) [Uncertain significance]
BICC1: NM_001080512.3(BICC1):c.2722A>T (p.Thr908Ser) [Uncertain significance]
BICC1: NM_001080512.3(BICC1):c.1045A>G (p.Met349Val) [Uncertain significance]

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-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 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

🗺️

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

25 ensaios clínicos encontrados, 2 ativos.

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

Timeline de publicações
359 papers (10 anos)
#1

Trends in End-Stage Kidney Disease Due to Reflux Nephropathy in Children and Young Adults.

Pediatrics2026 Jan 26

Up to 50% of children with urinary tract infections (UTIs) have vesicoureteral reflux (VUR). Severe VUR can lead to reflux nephropathy (RN) and end-stage kidney disease (ESKD). In 2011, the American Academy of Pediatrics UTI guidelines suggested selective voiding cystourethrogram (VCUG), departing from previous recommendations to obtain VCUG after all febrile UTIs in children aged less than 2 years. It is unknown whether the subsequent decrease in VCUG has led to increased preventable kidney damage. This study's objective is to evaluate recent trends in the US incidence of pediatric ESKD owing to RN. This retrospective cohort study used the US Renal Data System, a database that includes all US patients with ESKD. We identified patients aged 24 years and younger with ESKD attributed to RN from 2002 to 2021 as well as diagnoses that may overlap with RN. We used the US Census Bureau data to ascertain population incidence and a Poisson regression model for average annual percentage change (AAPC). There were 46 000 cases of ESKD. The all-cause incidence of ESKD decreased (AAPC of -1.0%; 95% CI, -1.4% to -0.7%) as did the incidence of ESKD owing to RN (AAPC of -4.4%; 95% CI, -5.8% to -3.0%). The incidence of ESKD from obstructive uropathies and renal dysplasia also decreased; however, the incidence of other nonspecific congenital anomalies of the kidney and urinary tract increased. The declining use of VCUG over the last decade has not resulted in a measurable worsening of ESKD related to identified RN at the population level. Continued surveillance over time and investigations into shorter-term kidney outcomes are needed.

#2

Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement: A Case Report and Literature Review.

Pediatrics2026 Jan 01

We report a rare presentation of posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) in a 14-year-old girl presenting with severe symptomatic hypertension secondary to bilateral renal dysplasia and grade 4 hypertensive retinopathy causing near blindness in her right eye. Magnetic resonance imaging of the brain and spine showed patchy T2 hyperintensity in the basal ganglia, brainstem, and cerebellum and extensive longitudinal central gray and white matter T2 hyperintensity in the spinal cord from the cervical cord to the conus. Despite extensive neuroimaging changes, she had no neurological signs apart from a visual acuity of 3/95 (20/400 Snellen) of the right eye. The imaging changes completely resolved on follow-up neuroimaging with blood pressure control, although a visual acuity deficit persisted. This case report and review of the literature highlights the rare presentation of PRES-SCI in the pediatric population and emphasizes the need for early recognition and treatment to ensure good neurological outcome and to avoid misdiagnoses. Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia and diaphragm eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare in those with severe pulmonary hypoplasia and/or multiple malformations. Data on postnatal growth and psychomotor development remain limited; however, severe developmental delays and intellectual disability are common among individuals with PIGN-related Fryns syndrome. The clinical diagnosis of Fryns syndrome can be established in a proband based on clinical diagnostic criteria; the molecular diagnosis can be established in a proband with suggestive findings and biallelic loss-of-function variants in PIGN identified by molecular genetic testing. Treatment of manifestations: For congenital diaphragmatic hernia, the neonate is immediately intubated to prevent inflation of herniated bowel; surgery and/or supportive measures performed as for the general population. Additional anomalies may require consultations and management by a craniofacial specialist, cardiologist, urologist, nephrologist, gastroenterologist, and ophthalmologist. Standardized treatment with anti-seizure medications by an experienced neurologist. Developmental services as needed, including feeding, motor, adaptive, cognitive, and speech-language therapy as well as family and social work support. Surveillance: Those with successful congenital diaphragmatic hernia repair should be followed in a specialized center with periodic evaluations by a multidisciplinary team (pediatric surgeon, nurse specialist, cardiologist, pulmonologist, nutritionist). Follow up with a craniofacial specialist, cardiologist, urologist, nephrologist, gastroenterologist, and ophthalmologist as needed. Monitor those with seizures as clinically indicated. Assess for new onset of seizures. Monitor developmental progress and educational and family needs. Fryns syndrome is inherited in an autosomal recessive manner. Assuming that both parents are heterozygous for a Fryns syndrome-causing variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. If a molecular diagnosis of PIGN-related Fryns syndrome has been established in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.

#3

Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.

Current hypertension reports2026 Mar 16

This narrative review aims to summarize what is currently understood about Neurofibromatosis Type 1 (NF-1) and renovascular hypertension (RVH) in children, including clinical presentation and diagnosis, epidemiology, genetics, and management considerations including advances in treatment modalities. Most of what is currently understood about NF-1 and arterial dysplasia leading to RVH relies on the inclusion of patients with NF-1 in single-institution reports. The management of pediatric RVH often requires multi-modal therapies inclusive of anti-hypertensive medications and revascularization for refractory cases, through catheter-based (i.e., endovascular) and open surgical means. There is a need to develop genotype-targeted guidelines for the diagnosis and management of pediatric aorto-renal dysplasia resulting in RVH in patients with NF-1. While our understanding of pediatric RVH and NF-1 has evolved over the past decade, critical research questions have emerged that encompass epidemiology, etiology and genetics. These research questions require immediate attention to establish and optimize standardized diagnostic and treatment guidelines.

#4

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Archivos espanoles de urologia2026 Jan

Prune belly syndrome (PBS) is a rare congenital disorder defined by deficient abdominal musculature, urinary tract anomalies and cryptorchidism. Clinical presentation is variable, and extrarenal malformations are common. A retrospective descriptive study of seven patients diagnosed with PBS between 1990 and 2024 in a tertiary-care hospital was carried out. Clinical, biochemical, radiological, auxological and surgical data were reviewed. All patients had megacystis and abdominal muscle hypoplasia. Megalourethra was observed in three (43%), cryptorchidism in six (86%), hydronephrosis in all cases and renal dysplasia in four (57%). Extrarenal anomalies included congenital heart disease in three patients (43%), musculoskeletal defects in three (43%) and other malformations in two (28%). Mean serum creatinine level was 0.83 mg/dL at birth and 1.30 mg/dL at the last follow-up. Two patients (28%) required clean intermittent catheterisation, and one (14%) underwent renal transplantation at 14 years. Surgical procedures included orchidopexy in five patients (71%), vesicostomy in four (57%) and Mitrofanoff appendicovesicostomy in one patient. PBS is a rare disorder with a heterogeneous clinical spectrum. This cohort revealed a high prevalence of cardiac anomalies. Renal dysplasia, recurrent urinary tract infections and delayed surgical intervention were associated with progressive renal impairment. Management in centres with multidisciplinary teams is essential.

#5

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC501 artigos no totalmostrando 199

2025

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

The Pan African medical journal
2026

Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.

Current hypertension reports
2025

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Pediatric Hepatocyte Nuclear Factor 1B (HNF1B) Disease: Diabetes and Endocrine Manifestations.

Pediatric diabetes
2026

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Archivos espanoles de urologia
2026

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

Cureus
2026

Unexpected severe hypercalcemia in a 6-year-old child with hypoparathyroidism and feeding difficulties.

JCEM case reports
2026

Bilateral Glomerulocystic Kidney Disease With Extensive Embryonal Hyperplasia in a Setting of HNF1B Mutation.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2026

[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2026

The post-marketing safety of venlafaxine: a real-world two-decade pharmacovigilance study using the FAERS database.

Frontiers in pharmacology
2025

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

Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
2026

Trends in End-Stage Kidney Disease Due to Reflux Nephropathy in Children and Young Adults.

Pediatrics
2026

Screening Eye Examination in a 9-Year-Old Girl With Congenital Renal Dysplasia.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2025

A pediatric autopsy case of Goldston syndrome: A rare case report.

Forensic science, medicine, and pathology
2026

Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement: A Case Report and Literature Review.

Pediatrics
2025

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

Pediatric radiology
2026

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome.

American journal of medical genetics. Part A
2025

Myelomeningocele in a newborn with VACTERL association.

Archivos argentinos de pediatria
2025

Mayer-Rokitansky-Küster-Hauser Syndrome: Where Does Gynaecological Pathology End and Renal Disease Begin? The Value of a Comprehensive View. Two Case Reports with Adult Onset Kidney Disease and A Review of the Literature.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
2025

Prenatal treatment of posterior urethral valves in a newborn with anorectal stenosis.

Ceska gynekologie
2025

HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report.

Clinical case reports
2025

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

Cureus
2025

Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report.

Molecular syndromology
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

Long-Term Outcomes of Prenatally Diagnosed Fetal Hemivertebra: A 15-Year Single-Center Review.

Children (Basel, Switzerland)
2025

Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.

Orphanet journal of rare diseases
2025

The Application of Robotic-Assisted Surgery in Renal Disorders of Infants and Toddlers: A Retrospective Cohort Analysis.

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

Mini-laparotomy to avoid vascular injury during fetoscopic laser ablation in a case of twin-twin transfusion syndrome with anterior wall placenta: Report of a case complicated with renal dysplasia and cord-around-trunk in donor cotwin and review of the literature.

Taiwanese journal of obstetrics &amp; gynecology
2025

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

Archivos espanoles de urologia
2025

Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.

Journal of medical case reports
2025

Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.

Orphanet journal of rare diseases
2025

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

BMJ case reports
2025

[Analysis of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Heterozygous variants of uncertain significance in NPHS1 and CRB2 in a newborn with congenital nephrotic syndrome of the Finnish type and multiple fetal anomalies: a case report.

AME case reports
2025

Rare Association of Ureteral Atresia in a Horseshoe Kidney: A Case Report and Review of Literature.

Journal of Indian Association of Pediatric Surgeons
2025

[Preliminary application of domestic single-port serpentine arm robotic surgical system in children's pyeloplasty].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2025

Prenatal Diagnosis of Vaginal Ectopic Ureter Insertion-Case Outcome and Literature Overview.

Diagnostics (Basel, Switzerland)
2025

Combined Urogenital and Musculoskeletal Malformations in a Dog: A Case Report.

Anatomia, histologia, embryologia
2025

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

Journal of pediatric hematology/oncology
2025

Dexamethasone induces transgenerational inheritance of fetal-derived glomerulosclerosis phenotype in offspring through GR/DNMT3a mediated alterations of the lncRNA-Meg3/Notch signaling pathway.

Cell communication and signaling : CCS
2025

Lung Growth and Intrapulmonary Circulation in Fetuses With Anhydramnios Due to Severe Renal Anomalies Treated With Serial Amnioinfusions.

Prenatal diagnosis
2025

Case Report: Diagnostic overlap of OHVIRA syndrome and Gartner duct cyst: challenges in imaging and management.

Frontiers in pediatrics
2025

Screening Practices for Müllerian Anomalies in Patients With Known Renal or Urologic Anomalies: A Retrospective Chart Review.

Journal of pediatric surgery
2025

MURCS Syndrome: Atypical form of Mayer-Rokitansky-Kuster-Hauser Syndrome.

Journal of obstetrics and gynaecology of India
2025

Case report: a case of hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome.

Frontiers in genetics
2025

Iliocaval Anomaly With Resulting Congestive Nephropathy: A Rare Etiology of Allograft Dysfunction Following Kidney Transplantation.

Pediatric transplantation
2025

The role of chromatin-related epigenetic modulations in CAKUT.

Current topics in developmental biology
2025

Ectopic ureter presenting as a scrotal fistula associated with unilateral atrophic kidney: a rare case report.

Annals of medicine and surgery (2012)
2024

Hypocalcemia Induced Optic Neuropathy in a Patient with Undiagnosed Hypocalcemia, Deafness, and Renal Syndrome.

Oman medical journal
2025

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

Urology case reports
2025

Fetal-to-fetal kidney transplantation in utero.

Communications biology
2025

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report.

Biomedical reports
2025

Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene.

Frontiers in endocrinology
2025

Renal dysplasia development and chronic kidney disease.

Pediatric research
2025

Development and face validity testing of pyeloplasty surgical training models.

ANZ journal of surgery
2025

Fetal bilateral hyperechogenic kidneys: Prenatal progression and long-term postnatal outcome.

Early human development
2025

[Genetic defects in Braunvieh cattle of Switzerland - an overview].

Schweizer Archiv fur Tierheilkunde
2025

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.

BMC pediatrics
2025

Posterior Urethral Valves and Fertility: Insight on Paternity Rates and Seminal Parameters.

Diseases (Basel, Switzerland)
2025

Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel GATA3 Variant.

JCEM case reports
2025

Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature.

Annals of medicine
2025

Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family.

Endocrine
2024

Pediatric Kidney Transplantation in an Under-resourced Country: A Single-Center Experience.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
2024

Congenital Anomalies of the Kidney and Urinary Tract in Patients with Hirschsprung Disease.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2024

Generation of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cells.

Stem cell research
2024

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

Neonatal network : NN
2025

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Journal of human genetics
2024

Distinguishing Features of Childhood Renal Dysplasia.

Klinische Padiatrie
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

Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2024

Zinner syndrome with contralateral hydronephrosis: A rare congenital condition.

Urology case reports
2024

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.

Endocrine journal
2024

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.

Life science alliance
2024

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.

International journal of molecular sciences
2024

HDR syndrome: Large cohort and systematic review.

Clinical genetics
2024

Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities.

Frontiers in genetics
2024

Placement of an artificial urethral sphincter in 8 male dogs with urethral diverticulum.

Journal of veterinary internal medicine
2024

Fetal lower urinary tract obstruction: international Delphi consensus on management and core outcome set.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Renal dysplasia in Leonberger dogs - An emerging recessive congenital disorder?

Animal genetics
2024

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

European journal of medical genetics
2024

Early post-operative outcomes of robot-assisted pyeloplasty in patients with unilateral ureteropelvic junction obstruction.

International urology and nephrology
2024

Estrogen Receptor Expression in DICER1-related Lesions is Associated With the Presence of Cystic Components.

The American journal of surgical pathology
2024

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.

Molecular genetics and metabolism reports
2024

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

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

Indian journal of pathology &amp; microbiology
2024

Congenital anomalies of kidney and urinary tract (CAKUT) and associated extra-renal anomalies in fetal autopsies.

Indian journal of pathology &amp; microbiology
2024

Acute renal failure as a key to significant neonatal weight loss.

BMJ case reports
2024

Antibiotic Prophylaxis in Infants With Grade III, IV, or V Vesicoureteral Reflux.

The Journal of urology
2024

Survival of Infants With Severe Congenital Kidney Disease After ECMO and Kidney Support Therapy.

Pediatrics
2024

A renal aplasia case mimicking radiologically as unilateral renal agenesis in a child with spina bifida, atresia ani and unilateral undescended testis: a case report.

Journal of medical case reports
2024

[Research progress of hypoparathyroidism-deafness-renal dysplasia syndrome].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2024

Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.

BMC pregnancy and childbirth
2024

Bilateral renal dysplasia with systemic fibrous osteodystrophy in a four-toed hedgehog (Atelerixalbiventris).

Journal of comparative pathology
2023

DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility.

Cureus
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

Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene.

Prenatal diagnosis
2023

Spontaneous resolution and the role of endoscopic surgery in the treatment of primary obstructive megaureter: a review of the literature.

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2023

Retracted: Artificial Intelligence Algorithm-Based Computed Tomography Image of Both Kidneys in Diagnosis of Renal Dysplasia.

Computational and mathematical methods in medicine
2024

A case report of renal dysplasia with papillary adenoma.

Asian journal of surgery
2023

Preeclampsia impedes foetal kidney development by delivering placenta-derived exosomes to glomerular endothelial cells.

Cell communication and signaling : CCS
2024

Disparities Between Prenatal Ultrasound and Autopsy Findings in Pregnancies Resulting in Fetal Loss.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2024

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

BJU international
2024

Significance of expeditious diagnosis and treatment following menarche in obstructed hemivagina and ipsilateral renal agenesis syndrome: A case report.

Radiology case reports
2024

Validation of ICD-9-CM codes for major genitourinary birth defects in Military Health System administrative data, 2006-2014.

Birth defects research
2023

CEP55-associated lethal fetal syndrome: a case report of a Chinese family.

Frontiers in genetics
2023

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

Medicina (Kaunas, Lithuania)
2023

A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.

Indian journal of nephrology
2023

Clinicopathological and genetic features of Zinner's syndrome: two case reports and review of the literature.

Frontiers in urology
2023

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.

Frontiers in genetics
2023

The function of miRNAs in the process of kidney development.

Non-coding RNA research
2024

HDR syndrome, detected in the neonatal period by newborn hearing screening.

Auris, nasus, larynx
2023

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.

Frontiers in endocrinology
2024

Risk for graft loss in pediatric and young adult kidney transplant recipients due to recurrent IgA nephropathy.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
2024

Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.

Journal of endocrinological investigation
2024

Does a Nonreassuring Fetal Heart Rate Pattern Impair Renal Function in Neonates Prenatally Diagnosed with Congenital Anomalies of the Kidneys and Urinary Tract?

American journal of perinatology
2023

Posterior Urethral Valves, Unilateral Vesicoureteral Reflux, and Renal Dysplasia (VURD) Syndrome: Long-Term Longitudinal Evaluation of the Kidney Function.

International journal of environmental research and public health
2023

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

BJU international
2023

Clinical features of 102 patients with different types of Herlyn-Werner-Wunderlich syndrome.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2023

Posterior urethral valves, pressure pop-offs, and kidney function: systematic review and meta-analysis.

World journal of urology
2023

Ahnak is required to balance calcium ion homeostasis and smooth muscle development in the urinary system.

Cell &amp; bioscience
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
2023

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

Journal of paediatrics and child health
2023

[Clinical and genetic analysis of a fetus with 17q12 microdeletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Obstructed Hemivagina and Ipsilateral Renal Agenesis Syndrome in a Neonate.

Cureus
2023

Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report.

Frontiers in pediatrics
2023

A meta-analysis of pregnancy outcomes in the diagnosis of isolated foetal renal parenchyma by prenatal ultrasonography.

Technology and health care : official journal of the European Society for Engineering and Medicine
2023

Early pyeloplasty and excision of a multicystic kidney in a neonate with a complicated nephrostomy: A case report.

Annals of medicine and surgery (2012)
2023

OHVIRA syndrome: Early recognition prevents genitourinary complications.

Ultrasound (Leeds, England)
2023

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

Pediatric surgery international
2023

ASH2L Controls Ureteric Bud Morphogenesis through the Regulation of RET/GFRA1 Signaling Activity in a Mouse Model.

Journal of the American Society of Nephrology : JASN
2022

Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature.

Cureus
2023

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.

American journal of medical genetics. Part A
2022

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

Children (Basel, Switzerland)
2023

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

Pediatric surgery international
2022

Ectopic Ureter-A Retrospective Analysis, Symptom and Treatment.

Archivos espanoles de urologia
2022

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair.

Frontiers in genetics
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
2022

Hypertension crisis as the first symptom of renovascular hypertension in children.

Italian journal of pediatrics
2023

Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis.

American journal of medical genetics. Part A
2023

Predictive factors for survival in patients with oligohydramnios secondary to antenatal kidney disease.

Pediatric nephrology (Berlin, Germany)
2023

Single institution experience of cloacal malformation.

Journal of pediatric surgery
2023

Zinner's syndrome: Masquerading as pyonephrotic ectopic kidney.

Radiology case reports
2022

Evaluating the impact of pop-off mechanisms in boys with posterior urethral valves.

Frontiers in pediatrics
2022

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report.

Medicine
2022

Predictors of advanced chronic kidney disease in infancy after definitive vesicoamniotic shunting for congenital lower urinary tract obstruction.

Frontiers in pediatrics
2022

A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.

Genes
2022

Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports.

Radiology case reports
2022

Case report: BCL-2 and CD31 immunoexpression related to clinical and histopathological evaluation of renal dysplasia in a Welsh Corgi Puppy.

Frontiers in veterinary science
2022

Pop-off mechanisms as protective factors against chronic renal disease in children with posterior urethral valves.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2022

Congenital malformations of the urinary tract: progression to chronic renal disease.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2022

Unilateral macrocystic dysplasia and contralateral agenesis in a monoamniotic twin.

Ceska gynekologie
2022

Chronic Kidney Disease in Boys with Posterior Urethral Valves-Pathogenesis, Prognosis and Management.

Biomedicines
2022

Peritoneal Dialysis and Inflammatory Demyelinating Polyneuropathy: A Correlation or Co-Incidence?

Cureus
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

Risk factors for end stage renal disease in children with anorectal malformation and outcome comparison to children with isolated urological anomalies.

Journal of pediatric urology
2022

[Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality].

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

First case of two supernumerary markers derived from chromosome 5 and chromosome 8.

Molecular cytogenetics
2022

Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.

Pediatric nephrology (Berlin, Germany)
2022

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

BMJ case reports
2022

Prenatal caffeine exposure induced renal developmental toxicity and transgenerational effect in rat offspring.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association
2022

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

Kidney diseases (Basel, Switzerland)
2022

Renal Dysplasia with Hydronephrosis and Congenital Ureteral Stricture in Two Holstein-Friesian Calves.

Journal of comparative pathology
2022

[Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Urine Biochemistry of a Human Fetus with Urinary Tract Obstruction - A Case Report.

Fetal and pediatric pathology
2022

Dialysis access-associated steal syndrome with percutaneous endovascular arteriovenous fistula creation.

CVIR endovascular
2022

Multiple vas deferens with polyorchidism and many congenital malformations in a symptomatic 11-year-old male patient: a rare case report.

BMC urology
2022

Artificial Intelligence Algorithm-Based Computed Tomography Image of Both Kidneys in Diagnosis of Renal Dysplasia.

Computational and mathematical methods in medicine
2022

[Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome].

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

New Insights from Metabolomics in Pediatric Renal Diseases.

Children (Basel, Switzerland)
2022

Contemporary diagnosis and management of pelvi-ureteric junction obstruction.

BJU international
2022

A rare variant of obstructed hemivagina and ipsilateral renal agenesis and its improvement of classification.

The journal of obstetrics and gynaecology research
2022

[Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation].

Zhonghua nei ke za zhi
2022

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

European journal of medical genetics
2022

Late renal allograft torsion in a pediatric transplant recipient.

Pediatric transplantation
2022

Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome.

Ophthalmic genetics
2021

A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.

Clinica chimica acta; international journal of clinical chemistry
2021

[Analysis of related phenotype of prenatal cases with copy number variations in various region of 22q11.2].

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

Posterior Urethral Valves Outcomes Prediction (PUVOP): a machine learning tool to predict clinically relevant outcomes in boys with posterior urethral valves.

Pediatric nephrology (Berlin, Germany)
2021

[Perlman syndrome research progress].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Temporary vesicostomy in pediatrics: What are the potential predictors of functional and morphological improvement of the upper urinary tract?

Journal of pediatric urology
2021

Retroperitoneoscopic Nephrectomy in Pediatric Patients.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2022

Cochlear implantation in Branchiootorenal syndrome - case report and review of the literature.

Cochlear implants international
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
2021

Comprehensive Metabolic Signature of Renal Dysplasia in Children. A Multiplatform Metabolomics Concept.

Frontiers in molecular biosciences
2021

First case report of spontaneous perinatal gastric perforation in premature neonate with potter sequence and syndrome.

International journal of surgery case reports
2021

A rare case of symptomatic hydrometrocolpos in a 5y old female.

Urology case reports
2021

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Answers.

Pediatric nephrology (Berlin, Germany)
2021

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Questions.

Pediatric nephrology (Berlin, Germany)
2021

Segmental multicystic dysplastic kidney: Two case reports.

Pediatrics international : official journal of the Japan Pediatric Society
2022

Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment.

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

Early Renal Ultrasound in Congenital Solitary Kidney May Help to Select Patients at Lower Risk of Associated Vesicoureteral Reflux.

Neonatology
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

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

Ulcerative Colitis of the Neovagina in a Toddler with Cloaca and Chronic Kidney Disease.

European journal of pediatric surgery reports
2021

A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature.

American journal of ophthalmology case reports
2021

Elevated sweat chloride test: is it always cystic fibrosis?

Italian journal of pediatrics
2021

Unilateral Urogenital Disontogeny in a Dog.

Case reports in veterinary medicine
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Doenças relacionadas

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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. Trends in End-Stage Kidney Disease Due to Reflux Nephropathy in Children and Young Adults.
    Pediatrics· 2026· PMID 41582309mais citado
  2. Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement: A Case Report and Literature Review.
    Pediatrics· 2026· PMID 41371254mais citado
  3. Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.
    Current hypertension reports· 2026· PMID 41838309mais citado
  4. Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.
    Archivos espanoles de urologia· 2026· PMID 41775349mais citado
  5. Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.
    Cureus· 2026· PMID 41769605mais citado
  6. Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review.
    Mol Cell Pediatr· 2026· PMID 41986760recente
  7. Mayer-Rokitansky-Küster-Hauser Syndrome Associated With Diabetes Mellitus and Renal Anomalies in an Adolescent Girl: A Rare Case Report.
    AACE Endocrinol Diabetes· 2026· PMID 41938300recente
  8. Adult Diagnosis of Solitary Kidney and Renal Dysplasia in a Male Born Prematurely as a Twin: A Case Report.
    Int J Nephrol Renovasc Dis· 2026· PMID 41883816recente
  9. Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
    Pan Afr Med J· 2025· PMID 41858965recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:93108(Orphanet)
  2. MONDO:0019638(MONDO)
  3. GARD:19173(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q669435(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
Compêndio · Raras BR

Displasia renal

ORPHA:93108 · MONDO:0019638
Prevalência
Unknown
Herança
Autosomal dominant, Not applicable
CID-10
Q61.4 · Displasia renal
CID-11
Ensaios
2 ativos
Início
All ages, Antenatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C3536714
EuropePMC
Wikidata
Wikipedia
Papers 10a
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