Raras
Buscar doenças, sintomas, genes...
Hipoplasia renal, bilateral
ORPHA:97362CID-10 · Q60.4CID-11 · LB30.0YDOENÇA RARA

A hipoplasia renal bilateral é uma forma de hipoplasia renal, que é uma alteração no desenvolvimento dos rins. Nela, os dois órgãos são menores do que o normal e possuem uma quantidade insuficiente de néfrons, que são as unidades que filtram o sangue.

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Introdução

O que você precisa saber de cara

📋

A hipoplasia renal bilateral é uma forma de hipoplasia renal, que é uma alteração no desenvolvimento dos rins. Nela, os dois órgãos são menores do que o normal e possuem uma quantidade insuficiente de néfrons, que são as unidades que filtram o sangue.

Publicações científicas
645 artigos
Último publicado: 2026 Apr 3

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
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q60.4
🇧🇷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

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Sinais e sintomas

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

Partes do corpo afetadas

🫘
Rins
6 sintomas
📏
Crescimento
3 sintomas
👁️
Olhos
1 sintomas
🫁
Pulmão
1 sintomas
🦴
Ossos e articulações
1 sintomas
🩸
Sangue
1 sintomas

+ 17 sintomas em outras categorias

Características mais comuns

90%prev.
Hipoplasia renal
Muito frequente (99-80%)
55%prev.
Doença renal crônica
Frequente (79-30%)
55%prev.
Fácies de Potter
Frequente (79-30%)
55%prev.
Proteinúria
Frequente (79-30%)
55%prev.
Cisto renal
Frequente (79-30%)
55%prev.
Taxa de filtração glomerular diminuída
Frequente (79-30%)
31sintomas
Muito frequente (1)
Frequente (9)
Ocasional (21)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.

Hipoplasia renalRenal hypoplasia
Muito frequente (99-80%)90%
Doença renal crônicaChronic kidney disease
Frequente (79-30%)55%
Fácies de PotterPotter facies
Frequente (79-30%)55%
ProteinúriaProteinuria
Frequente (79-30%)55%
Cisto renalRenal cyst
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico645PubMed
Últimos 10 anos200publicações
Pico2025108 papers
Linha do tempo
2026Hoje · 2026🧪 2018Primeiro 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

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.

PBX1Pre-B-cell leukemia transcription factor 1Role in the phenotype ofAltamente restrito
FUNÇÃO

Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052). Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein (PubMed:9191052). Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 (PubMed:7791786, PubMed:8327485). Acts as a transcriptional activator of PF4 in complex with

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
Transcriptional regulation of pluripotent stem cellsActivation of anterior HOX genes in hindbrain development during early embryogenesisNOTCH3 Intracellular Domain Regulates Transcription
MECANISMO DE DOENÇA

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
144.3 TPM
Cervix Ectocervix
107.5 TPM
Cervix Endocervix
102.4 TPM
Fallopian Tube
87.9 TPM
Cólon sigmoide
52.0 TPM
OUTRAS DOENÇAS (3)
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayrenal hypoplasia, bilateralB-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)
HGNC:8632UniProt:P40424
PAX2Paired box protein Pax-2Major susceptibility factor inAltamente restrito
FUNÇÃO

Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
Formation of the ureteric budFormation of the nephric ductFormation of intermediate mesoderm
MECANISMO DE DOENÇA

Papillorenal syndrome

An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Medula
58.0 TPM
Rim - Córtex
52.8 TPM
Fallopian Tube
3.5 TPM
Cerebelo
2.5 TPM
Cérebro - Hemisfério cerebelar
1.8 TPM
OUTRAS DOENÇAS (4)
renal coloboma syndromefocal segmental glomerulosclerosis 7familial idiopathic steroid-resistant nephrotic syndromerenal hypoplasia, bilateral
HGNC:8616UniProt:Q02962

Variantes genéticas (ClinVar)

643 variantes patogênicas registradas no ClinVar.

🧬 PAX2: NM_000278.5(PAX2):c.178G>T (p.Val60Phe) ()
🧬 PAX2: NM_000278.5(PAX2):c.616+16G>A ()
🧬 PAX2: NM_000278.5(PAX2):c.420G>A (p.Arg140=) ()
🧬 PAX2: NM_000278.5(PAX2):c.51C>T (p.His17=) ()
🧬 PAX2: NM_000278.5(PAX2):c.1019C>T (p.Pro340Leu) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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 12
·Pré-clínico1
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 — Hipoplasia renal, bilateral

🗺️

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.

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Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

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Outros ensaios clínicos

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

Timeline de publicações
29 papers (10 anos)
#1

Factors associated with spontaneous resolution and surgery in non-obstructive non-refluxing megaureters.

Pediatrics international : official journal of the Japan Pediatric Society2026

Clinical and radiological criteria for predicting surgical approach or spontaneous resolution have been evaluated mainly in primary non-refluxing megaureters detected prenatally. We aimed to analyze these criteria in a retrospectively collected cohort of children with either prenatal or postnatal diagnosis of non-obstructive non-refluxing (NONR) megaureter. Hospital files of the children with NONR megaureter were evaluated retrospectively for age at diagnosis, presenting complaint, follow-up period, accompanying urologic abnormalities, complications (renal scar and urinary tract infection), and final status. There were 27 NONR megaureters in 25 patients (male/female: 19/6; prenatal/postnatal: 18/7). Two prenatal cases had bilateral involvement. Spontaneous resolution rate in renal units was lower in postnatal cases than in prenatal cases (2 out of 7 vs. 15 out of 20, OR 7.5). Spontaneous resolution rate was also higher when ureteral diameter was <11 versus ≥11 mm (OR 10.9) and renal pelvis anteroposterior diameter ≤10 mm versus >10 mm (OR 19.2). Surgical intervention rate was higher in the presence of ureteral diameter ≥14 versus <14 mm (OR 22.0). Renal units that underwent surgical treatment showed higher rates of febrile urinary tract infections, renal scarring, and reduced renal function on 99mTc-MAG3 scintigraphy compared to those without surgical intervention. Initial management of asymptomatic non-refluxing megaureters should be observational monitoring. Majority of them resolve spontaneously if ureteral diameter is <11 mm with renal pelvis anteroposterior diameter ≤10 mm. However, children with ureteral diameter ≥14 mm are prone to develop febrile urinary tract infection, renal scar, and decreased renal function requiring surgical intervention.

#2

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.

Orphanet journal of rare diseases2026 Feb 05

Enamel Renal Syndrome (ERS) is a rare disorder characterized by a combination of dental and renal abnormalities, including stones and hypophosphatemia. ERS is genetically heterogeneous. We report on four pediatric cases of homozygous LoF FAM20A mutations (2 families). Biological (including oral calcium load) and imaging (dental and renal) data were reviewed. Results are presented as median(range). All patients were referred for renal screening by the specialized dental team at a median age of 14.5 [11–19] years. None of them presented symptoms of microscopic/macroscopic hematuria, nor renal colic despite the presence of multiple bilateral nephrolithiasis in all and nephrocalcinosis in one family. Biological parameters were vastly similar, with preserved renal function (eGFR 109(93–111) mL/min/1.73 m²), hypophosphatemia (median − 1.9(-3.4;-1.7) SDS for age), elevated FGF-23 (98(84–117) RU/mL, normal range 21–91 RU/mL) with hypocalciuria and low TmP/GFR. Oral calcium load tests confirmed the absence of resorptive and absorptive hypercalciuria, with adequate PTH inhibition during the test; of note, “baseline” PTH levels tended to be at the upper normal limit (83(65–131) ng/L, local upper normal limit 65ng/L) that was not adequate in view of hypophosphatemia, with 25D levels at 44(19–92) nmol/L. All patients were subsequently followed in pediatric nephrology and received hyperhydration and prudent vitamin D supplementation. These cases highlight the need for interdisciplinary collaboration between pediatric nephrologists, dental specialists and geneticists, to ensure that patients receive timely renal evaluation. The identification of elevated FGF-23 levels in FAM20A-related ERS with severe nephrolithiasis and hypophosphatemia raises the question of the interest of burosumab as targeted therapy. The online version contains supplementary material available at 10.1186/s13023-026-04232-6.

#3

Altered Neural Activity and Functional Connectivity of Dorsolateral Prefrontal Cortex Associated With Cognitive Impairment in Patients With End-Stage Renal Disease.

Journal of integrative neuroscience2026 Jan 21

Executive dysfunction is the most prominent feature of cognitive impairment in patients with end-stage renal disease (ESRD). The dorsolateral prefrontal cortex (DLPFC) is a central region for the regulation of executive functions. The aim of our study was to examine alterations in neural activity and functional connectivity (FC) of the DLPFC in relation to cognitive assessments and clinical indicators in patients with ESRD using the resting-state functional magnetic resonance imaging (rs-fMRI) technique, and to further predict cognitive-related brain damage in this population. A total of 37 ESRD patients and 35 normal controls received MRI scans and neuropsychological assessments. Inter-group differences in fractional amplitude of low-frequency fluctuations (fALFF) and FC of the DLPFC were compared. Additionally, the relationships between DLPFC abnormalities and cognitive function were analyzed in ESRD patients, along with the clinical characteristics. Finally, we ascertained the potential of DLPFC abnormalities to predict cognitive-related brain damage using receiver operating characteristic (ROC) curve analysis. ESRD patients exhibited decreased fALFF in the bilateral DLPFC (p < 0.05, false discovery rate [FDR] corrected). These also showed abnormal FC with the frontoparietal cortex, cingulate cortex, cerebellar posterior lobe, inferior temporal gyrus, and rolandic operculum (p < 0.05, FDR corrected). Several alterations in the DLPFC were associated with cognitive assessments (p < 0.05) in ESRD patients, and were also correlated with the levels of uric acid and hemoglobin (p < 0.05). Importantly, ROC curve analysis showed the fALFF value of left DLPFC, and FC between right DLPFC and right middle frontal gyrus effectively predicted cognitive-related brain damage in patients with ESRD. This study demonstrated that the DLPFC is an important pathological brain region associated with the cognitive impairment of ESRD patients. Our results provide neuroimaging insights to further understand neural mechanisms of cognitive decline in this population.

#4

Characteristics of pediatric-onset anti-contactin1 antibody-associated autoimmune nodopathies with concomitant membranous nephropathy.

BMC pediatrics2026 Jan 16

Anti-contactin-1 antibody-associated autoimmune nodopathy (CNTN1-AN) is a rare disorder predominantly affecting older individuals, characterized by sensorimotor peripheral neuropathy, with over 50% of cases presenting with proteinuria and membranous nephropathy (MN). Pediatric-onset CNTN1-AN is exceptionally rare, and its clinical profile remains poorly characterized. We report a pediatric case of CNTN1-AN with MN and conduct a literature review to elucidate the pathogenesis and clinical features of CNTN1-AN combined with MN in children. The patient, an 11-year-old girl, presented with a one-month history of progressive lower limb weakness and a 10-day progression of gait instability. Physical examination demonstrated bilateral proximal lower limb weakness, restricted mobility, and sensory abnormalities.No facial or limb edema or frothy urine was observed. Elevated anti-CNTN1 antibody titers were detected in both serum (1:320) and cerebrospinal fluid (CSF) (1:3.2). Urinalysis showed significant proteinuria (4+). Electromyography (EMG) indicated peripheral nerve involvement, and lumbosacral and brachial plexus magnetic resonance imaging (MRI) demonstrated nerve root edema and thickening. Renal biopsy confirmed stage I MN, establishing the diagnosis of CNTN1-AN with MN. Following prednisone and rituximab therapy, motor function improved, though renal progression persisted. A comprehensive literature review identified six confirmed pediatric CNTN1-AN cases globally. Including the current case, renal involvement was observed in 3/7 pediatric cases, with MN confirmed in two. Comparative analysis indicates that CNTN1-AN manifests similarly across pediatric and adult populations, though pediatric cases demonstrate potentially lower incidence rates. Pediatric CNTN1-AN exhibits a low incidence, requiring ongoing renal function monitoring in affected cases. In CNTN1-AN with MN, neurological symptoms respond well to low-dose rituximab, whereas renal manifestations often require intensified regimens. The mechanisms linking CNTN1-AN and MN remain elusive, highlighting the need for further studies to optimize rituximab therapeutic protocols. [Image: see text]

#5

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature.

Clinical genetics2026 Mar

Autosomal recessive polycystic kidney disease (ARPKD) is a rare but severe hereditary renal disorder characterized by bilaterally enlarged, cystic kidneys and varying degrees of hepatic fibrosis, often leading to early-onset kidney failure and significant morbidity. While most ARPKD cases are linked to mutations in the PKHD1 gene, recent advances in genomic sequencing have revealed that mutations in other genes, including PDIA6, may contribute to similar phenotypes. The PDIA6 gene encodes protein disulfide isomerase A6, which plays a critical role in protein folding within the endoplasmic reticulum (ER) and in the regulation of ER stress responses. Here, we report a rare and complex case of a full-term male neonate born to consanguineous Syrian refugee parents, who presented with a clinical constellation of features including polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Genetic analysis using whole-exome sequencing identified a homozygous two-base deletion in exon 5 of the PDIA6, resulting in a premature stop codon. Early diagnosis via genomic tools is essential for prognosis, management, and genetic counseling.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC3 artigos no totalmostrando 200

2026

Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation.

Nephrology (Carlton, Vic.)
2026

Predictors of chronic kidney diseases and kidney failure in patients with CAKUT: a cohort study.

International urology and nephrology
2026

Incidental findings of ipsilateral agenesis of the ovary and fallopian tube during cesarean section delivery successfully managed in a resource-limited setting: a case report.

International journal of surgery case reports
2026

Concurrent Vascular and Pelvic Anomalies of the Kidney: A Rare Cadaveric Observation.

Cureus
2026

Pseudo-renal failure with hyponatremia and proteinuria after gynecologic surgery: a case report with literature comparison.

BMC nephrology
2026

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies
2026

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.

Genes
2026

A Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate.

European journal of pediatric surgery reports
2026

Acute Q Fever Presenting with Severe Cholestatic Jaundice and Acute Kidney Injury in the Absence of Classic Exposure: A Rare Case Report.

Clinical medicine insights. Case reports
2026

Subtype- and treatment-based analysis of calcium dynamics in primary aldosteronism.

European journal of endocrinology
2025

Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation.

Frontiers in medicine
2026

Acute Renal Dysfunction and Candidemia due to Bilateral Ureteral Obstruction by Candida albicans Fungus Balls-Case Report.

Clinical case reports
2026

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.

Clinical case reports
2026

Sequential Multiple-Organ Immune-Related Adverse Events during and after Pembrolizumab Therapy in Triple-Negative Breast Cancer: A Case Report.

Case reports in oncology
2026

Concurrent thalamic and cerebellar involvement in pediatric neuropsychiatric lupus: Expanding the radiologic spectrum.

Lupus
2026

Factors associated with spontaneous resolution and surgery in non-obstructive non-refluxing megaureters.

Pediatrics international : official journal of the Japan Pediatric Society
2026

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.

Orphanet journal of rare diseases
2026

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant.

CEN case reports
2026

Prevalence, clinical profile, and associated anomalies with women with Mayer-Rokitansky-Küster-Hauser syndrome in a tertiary care center: A cross-sectional study.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2026

An autopsy case of extensive aortic thrombosis with acute kidney injury as the sole clinical manifestation.

CEN case reports
2026

A case of prune belly syndrome with patent urachus: Pediatric surgical aspects of a rare case report.

Radiology case reports
2026

Altered Neural Activity and Functional Connectivity of Dorsolateral Prefrontal Cortex Associated With Cognitive Impairment in Patients With End-Stage Renal Disease.

Journal of integrative neuroscience
2025

Atypical Presentation of a Preeclamptic Patient With Severe Features and Auditory Hallucinations.

Cureus
2025

Bilateral extra hilar branching pattern of renal artery: Its embryological basis and clinical elucidation.

Folia medica Cracoviensia
2026

A Rare Presentation of Chronic Nonsteroidal Anti-inflammatory Drug-induced Acute-on-chronic Kidney Disease with Secondary Hyperaldosteronism and Hyperparathyroidism in a Young Male with Refractory Hypertension.

Annals of African medicine
2026

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype.

Journal of human genetics
2025

Sirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.

Cureus
2025

Prenatal Diagnosis of Anterior Urethral Valve: A Case Report.

Cureus
2026

Characteristics of pediatric-onset anti-contactin1 antibody-associated autoimmune nodopathies with concomitant membranous nephropathy.

BMC pediatrics
2026

World's first surgical repair of bilateral common iliac artery agenesis.

Annals of the Royal College of Surgeons of England
2025

Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant.

Frontiers in pediatrics
2025

Clinical Characteristics, Etiologies, and Management Outcomes of Antenatal Hydronephrosis: A Prospective Observational Study.

Cureus
2026

Computed Tomography-Guided Biopsy of a Ureteral Urothelial Carcinoma Mimicking a Submucosal Bladder Tumor at the Ureterovesical Junction.

IJU case reports
2025

Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene.

Frontiers in medicine
2025

Diagnostic Challenges and Management of Urachal Malformations in an Infant.

CRSLS : MIS case reports from SLS
2025

Inherited Type-1 renal tubular acidosis with short stature: a rare case report from Nepal.

Annals of medicine and surgery (2012)
2025

Asynchronous Bilateral Pneumothorax in a Patient With Birt-Hogg-Dubé Syndrome: A Case Report.

Cureus
2025

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.

Molecular genetics &amp; genomic medicine
2026

Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.

European journal of radiology
2025

Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and PAX2 Loss-of-Function Variants and Implications for Clinical Management.

Kidney international reports
2026

Prolonged hypotension in children with bilateral kidney absence: a case series and pathophysiologic insights.

Pediatric nephrology (Berlin, Germany)
2025

Malignant Hypertension Complicated by Posterior Reversible Encephalopathy Syndrome (PRES).

Case reports in medicine
2025

Takayasu arteritis presenting with severe biventricular dysfunction and renal artery stenosis in a pediatric patient: a case report.

Annals of medicine and surgery (2012)
2025

Post-COVID-19-Associated Asymptomatic Sarcoidosis with Hypercalcemia and Renal Dysfunction: A Case Report and Literature Review.

The American journal of case reports
2025

Bilateral primary nonrefluxing unobstructed megaureter in an adult: a case report and review of the literature.

Journal of medical case reports
2025

Vitamin D Metabolism and the Risk of Renal Stones: A Focus on PHPT.

Metabolites
2026

Cistanche attenuates acute kidney injury by inhibiting ferroptosis through the disruption of Keap1-Nrf2 interaction.

Journal of ethnopharmacology
2025

Diagnostic and management challenges of prune belly syndrome in a low-income country: a neonatal case report.

Journal of surgical case reports
2025

Congenital duplicated ureter-vagina anomalous anastomosis causing female urinary incontinence: a case report and literature review.

Frontiers in pediatrics
2025

Renal Doppler as a Diagnostic Clue to Post-ductal Coarctation of the Aorta in an Adolescent Male: A Case Report.

Cureus
2025

Persistent left superior vena cava discovered during central line insertion in a patient with Joubert syndrome: a case report.

Journal of medical case reports
2025

[Primary hyperoxaluria-induced bilateral oxalate retinopathy: a case report].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2025

Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease.

Case reports in nephrology and dialysis
2025

A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7.

Molecular syndromology
2026

Clinical and prognostic characteristics of renal hypodysplasia in children: insights from a 10-year single-center cohort.

Pediatric nephrology (Berlin, Germany)
2025

A Multicenter Retrospective Study of Epidemiological Trends in Benign Acute Childhood Myositis Before and After the COVID-19 Pandemic.

Cureus
2025

A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.

JCEM case reports
2025

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Genes
2025

Frem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis.

Scientific reports
2026

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature.

Clinical genetics
2026

A Novel GLA Gene Variant in Fabry Disease: Corneal Verticillata and Multimodal Ocular Imaging Findings.

Cornea
2025

A rare bilateral renal arterial configuration featuring a right-sided crossed trajectory and left-sided type IIa branching: morphometric and embryological insights from cadaveric dissection.

Surgical and radiologic anatomy : SRA
2025

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

Archivos espanoles de urologia
2025

Hyponatremia and rhabdomyolysis from excessive water intake for ureteral stone expulsion in a patient with mental disorder: A case report.

Medicine
2025

Novel Candidate Genes Identified in Men with Congenital Absence of Vas Deferens without CFTR Gene Abnormalities.

Reproductive sciences (Thousand Oaks, Calif.)
2025

A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.

Cureus
2025

'Wolf in Sheep's Clothing': Third Trimester Diagnosis of Rare Adrenal Malignancy Masquerading as Common Renal Anomaly.

Australasian journal of ultrasound in medicine
2026

CAKUT subtypes determine the rate of progression to kidney failure-an adult patient cohort study.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

Placement of ureteric stents to address postoperative urinary leakage in calyceal diverticulum with partially duplicated ureters resembling a renal cyst: A case report.

Medicine
2025

Case Report: Compound heterozygous variants in BHLHA9 cause complex syndactyly with oligodactyly, renal artery variation, and facial scar.

Frontiers in pediatrics
2025

Immune checkpoint inhibitor-induced encephalitis mimicking Wernicke encephalopathy - A case report.

Clinical neurology and neurosurgery
2025

Prenatal detection rate of congenital anomalies over a period of 30 years: A population-based registry study.

European journal of obstetrics, gynecology, and reproductive biology
2025

Anti-neutrophil Cytoplasmic Antibody-Associated Vasculitis Presenting With Disseminated Streptococcus constellatus Pyogenic Infection.

Cureus
2025

Diffuse Pulmonary 99mTc-MDP Uptake on Bone Scintigraphy: A Paraneoplastic Hypercalcemia Clue in Cervical Carcinoma.

Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India
2025

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

Anatomia, histologia, embryologia
2025

Serial Amnioinfusion Therapy for Treatment of Congenital Bilateral Renal Agenesis-A Systematic Review.

Prenatal diagnosis
2025

Perinatal Stroke and Cerebral Sinovenous Thrombosis Caused by Congenital Nephrotic Syndrome NPSH1 (Finnish Type): A Case Report.

Neuropediatrics
2025

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Diagnostics (Basel, Switzerland)
2025

Potential preoperative three-dimensional computed tomography for para-aortic lymphadenectomy in gynecological malignancies.

The journal of obstetrics and gynaecology research
2025

A case of acute renal dysfunction and multiorgan dysfunction caused by Rickettsia japonica infection.

IDCases
2026

Non-Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis.

Clinical genetics
2025

A surveillance-based epidemiological study of renal agenesis in 25 million births in china, 2007-2020.

BMC pregnancy and childbirth
2025

Impaired intestinal calcium absorption and osteopathy in ICR/Mlac-hydro mice with hypoparathyroidism and severe hydronephrosis.

Scientific reports
2025

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.

Ophthalmic genetics
2025

Coiling in Renovascular Hypertension: A Case Report of Fibromuscular Dysplasia and Complex Urinary Tract Abnormalities.

The American journal of case reports
2025

Anatomical features of coexisting horseshoe kidney and double inferior vena cava.

Anatomical science international
2025

Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders.

Medicina (Kaunas, Lithuania)
2025

New Anhydramnios after 22 Weeks and Pulmonary Hypoplasia.

Fetal diagnosis and therapy
2025

Altered interhemispheric functional connectivity in end-stage renal disease patients receiving hemodialysis without cognitive impairment.

Frontiers in neurology
2025

Perinatal Urinary Tract Dilation: Recommendations on Pre-/Postnatal Imaging, Prophylactic Antibiotics, and Follow-up: Clinical Report.

Pediatrics
2025

The cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients.

Neuroradiology
2025

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.

Molecular genetics &amp; genomic medicine
2025

Examination of a patient with renal tubular acidosis: renal tubular acidosis with hyperparathyroidism, pheochromocytoma, and multiple kidney stones: a case report.

Journal of medical case reports
2026

A Case of Bilateral Renal Artery Fibromuscular Dysplasia in a U.S. Soldier.

Military medicine
2025

A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome.

Cureus
2025

The Hidden Hazard of Hypothyroidism: Statin-Associated Rhabdomyolysis With Life-Threatening Complications.

Cureus
2025

Thyroid Nodule Incidence, Characteristics, and Localization in Hemodialysis Patients With End-Stage Renal Disease: A Cross-Sectional Study in Palestine.

Hemodialysis international. International Symposium on Home Hemodialysis
2025

Chasing Highs, Experiencing Lows: A Case of Hypokalemia Associated With Cannabis Use.

Cureus
2025

Long-term kidney outcomes in patients with Kabuki syndrome.

Pediatric nephrology (Berlin, Germany)
2025

From prenatal detection to postnatal evaluation: a retrospective observational ultrasound study of patent urachus with allantoic cyst.

BMC pregnancy and childbirth
2025

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

BMC pregnancy and childbirth
2025

Complex Management of Bilateral Congenital Hydronephrosis in a Pediatric Patient: A Multidisciplinary Approach.

Healthcare (Basel, Switzerland)
2025

Three-dimensional Pseudo-continuous Arterial Spin Labeling Technique to Assess Cerebral Perfusion Changes in End-stage Renal Disease Patients Undergoing Hemodialysis.

Academic radiology
2025

Altered renal vascular patterning reduces ischemic kidney injury and limits age-associated vascular loss.

American journal of physiology. Renal physiology
2025

Giant angiomyofibroblastoma of the scrotum: a case report and review of the literature.

BMC urology
2025

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

Pediatric transplantation
2025

Bilateral Idiopathic Sclerochoroidal Calcification: A Case Report.

Cureus
2026

Bilateral Periorbital Erythema and Swelling as an Initial Presentation of Systemic Lupus Erythematosus: A Rare Case.

Current rheumatology reviews
2025

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

Medicina (Kaunas, Lithuania)
2025

Rhabdomyolysis as an Uncommon Manifestation of Anoctamin-5 Muscular Dystrophy.

European journal of case reports in internal medicine
2025

Does unilateral reflux have a protective effect in posterior urethral valve patients?

Pediatric surgery international
2025

Prenatal ultrasound diagnosis of ectopic ureter and renal hypoplasia in two puppies: a case report.

Veterinary research communications
2025

Prevalence and patterns of renal vascular variations among potential kidney donors: a Computed Tomography Angiography (CTA) study in Sudan.

BMC nephrology
2025

Spontaneous Pneumothorax Diagnosed As Birt-Hogg-Dubé Syndrome: A Report of a Rare Case.

Cureus
2025

Posterior ischemic optic neuropathy following continuous renal replacement therapy: a case report.

International journal of emergency medicine
2025

Routine 36-week scan: diagnosis of fetal abnormalities.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

IgG4-related disease revealed by acute pancreatitis: A case report and literature review.

Radiology case reports
2025

Intraoperative Renal Near-Infrared Spectroscopy Monitoring as a Predictor of Renal Outcomes in Cardiac Surgery.

Medical science monitor : international medical journal of experimental and clinical research
2025

Unilateral Weakness Caused By Spinal Cord Infarction in a Renal Transplant Recipient.

The neurologist
2025

Fetal-to-fetal kidney transplantation in utero.

Communications biology
2025

Surviving bilateral renal agenesis: Upper intestinal atresias preserving lung development without severe oligohydramnios.

Pediatrics international : official journal of the Japan Pediatric Society
2025

Bladder Outcomes in Bilateral Renal Agenesis.

Pediatric transplantation
2025

A Case of Atypical Meig's Syndrome Presenting With Pleural and Pericardial Effusion.

Cureus
2025

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

BMC medical genomics
2025

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

Early human development
2025

Posterior urethral valve complicated by bilateral urinoma and vesicoureteral reflux.

BMJ case reports
2025

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.

BMJ case reports
2025

Pediatric Urinary Stone Disease: A 10-Year Single-Center Experience from Türkiye.

Turkish archives of pediatrics
2025

A Case Report of Membranoproliferative Glomerulonephritis: Infection-Related or Immune-Related?

Clinical case reports
2024

[Uremic Leontiasis Ossea: A Challenge in End-Stage Chronic Kidney Disease. About a Case].

Revista medica de Chile
2025

Resazurin dye is an in vivo sensor of kidney tubular function.

Kidney international
2024

Analysis of associated malformations by computed tomography in adults with polysplenia syndrome: A pilot study.

PloS one
2025

Successful Kidney Transplantation for Bilateral Renal Hypoplasia With Ebstein Disease.

Pediatric transplantation
2025

Comparing Thulium Fiber Versus High-Power Holmium Laser Lithotripsy Combined with the Flexible and Navigable Suction Access Sheath in Flexible Ureteroscopy for Kidney Stone Disease: A Propensity Score Matched Analysis by the Global FANS Collaborative Group.

Journal of endourology
2025

Consciousness disturbance in patients with chronic kidney disease: Rare but potentially treatable complication. Clinical and neuroradiological review.

Behavioural brain research
2024

Sirenomelia-Challenges and Treatment Approach in a Rare Case.

Birth defects research
2025

The accessory renal arteries: A systematic review with meta-analysis.

Clinical anatomy (New York, N.Y.)
2025

When a Horseshoe Is Not a Lucky Find.

Pediatric emergency care
2024

A rare variant of zinner syndrome with ejaculatory duct cyst: case report and challenges in diagnosis and management.

BMC urology
2024

Uremic Encephalopathy Presented as Stroke: The Value of Lentiform Fork Sign.

Cureus
2024

Natural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study.

Journal of clinical medicine
2025

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Ophthalmic genetics
2024

Altered renal vascular patterning reduces ischemic kidney injury and limits vascular loss associated with aging.

bioRxiv : the preprint server for biology
2025

Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.

Prenatal diagnosis
2024

Practical Step-by-step SYNAPSE VINCENT Rendering of Three-dimensional Graphics in Horseshoe Kidney with Bilateral Varicoceles.

JMA journal
2025

Renal Transplantation with Triple Ureter Implantation into the Urinary Bladder after Dissolving a Bilateral Ureterocutaneostomy for Posterior Urethral Valves.

Urologia internationalis
2024

Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series.

Archives of gynecology and obstetrics
2025

Pathological Insights into Non-Neoplastic Renal Parenchyma in Wilms Tumor: Implications for Nephron-Sparing Surgery.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2024

Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.

Nephrology (Carlton, Vic.)
2024

Bilateral duplex kidney and ureter with multiple stones: a case report.

BMC urology
2024

A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases.

BMC pregnancy and childbirth
2024

EAST (Epilepsy, Ataxia, Sensorineural Hearing Loss, and Renal Tubulopathy) Syndrome: A Rare Association Between Brain, Ear, and Kidney.

Cureus
2025

Posterior urethral valves: Clinical audits of presentation, diagnostic and therapeutic intervention in a nigerian teaching hospital.

International urology and nephrology
2024

Mayer-Rokitansky-Kuster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report.

JNMA; journal of the Nepal Medical Association
2024

Fetal Autopsy: Insights Into the Spectrum of Dysraphisms With Associated Anomalies.

Cureus
2024

Effect of Presence of Uni- or Bilateral Thyroid Adenoma on Recovery of Pituitary-Thyroid Axis and Creatinine Concentration in Radioiodine-Treated Cats.

Animals : an open access journal from MDPI
2024

Early presentation of urological abnormalities in a case of Wolfram syndrome.

BMJ case reports
2025

Prenatal and postnatal imaging for early detection of sirenomelia: A case study.

Journal of clinical ultrasound : JCU
2024

Anatomical and Developmental Abnormalities of Ureters and Renal Pelvis Existing with Accessory Renal Arteries: Cadaveric Study.

Annals of African medicine
2024

Posterior Urethral Valves in a Healthy-Appearing Athletic Adult: A Case Report.

Cureus
2024

Serous Atrophy of Bone Marrow in the Feet Diagnosed via Magnetic Resonance Imaging: A Case Report.

Journal of the American Podiatric Medical Association
2025

Disturbed Dynamic Brain Activity and Neurovascular Coupling in End-Stage Renal Disease Assessed With MRI.

Journal of magnetic resonance imaging : JMRI
2025

Cochlear implantation in syndromic patients: difficulties and lessons learnt.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2024

A case report on posterior reversible encephalopathy syndrome (PRES) in an elderly female.

Annals of medicine and surgery (2012)
2024

Calcineurin inhibitor-induced pain syndrome (CIPS) affects the hips in a renal transplant recipient: A case report.

Radiology case reports
2024

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

Cureus
2024

[Clinical analysis of seven cases of primary hyperoxaluria type 1].

Zhonghua nei ke za zhi
2025

Bilateral renal agenesis: fetal intervention and outcomes.

Pediatric nephrology (Berlin, Germany)
2024

Role of the CDKL1-SOX11 signaling axis in acute kidney injury.

American journal of physiology. Renal physiology
2024

Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome.

Cureus
2024

Secondary pseudohypoaldosteronism: a 15-year experience and a literature review.

Pediatric nephrology (Berlin, Germany)
2024

Robot-assisted Partial Nephrectomy With Selective Artery Clamping for Renal Cell Carcinoma in Horseshoe Kidney.

In vivo (Athens, Greece)
2024

Hypogonadotropic hypogonadism with Zinner syndrome: a coincidence or a consequence?

BMJ case reports
2024

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

The Journal of pediatrics
2024

Urodynamic Abnormalities in Children with Primary Bilateral Vesicoureteral Reflux.

Archivos espanoles de urologia
2024

Diagnosis of renal lymphoma by Wright-Giemsa-stained cytocentrifuged urine evaluation in a cat.

The Canadian veterinary journal = La revue veterinaire canadienne
2024

Acute Kidney Injury in a Previously Healthy 56-Year-Old Male Following a Direct Visual Internal Urethrotomy of a Bulbar Stricture.

Cureus
2024

[Clinical analysis of 80 patients with oblique vaginal septum syndrome].

Zhonghua fu chan ke za zhi
2024

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

BMC medical genomics
2024

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

Prenatal diagnosis
2024

Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies.

Seminars in ophthalmology
2024

Prenatal diagnosis and outcomes for fetuses with suspected pelvic kidney.

European journal of obstetrics, gynecology, and reproductive biology
2024

[Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome].

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

Autoimmune Liver Disease Associated Uveitis: An Extrahepatic Manifestation or a Polyautoimmunity Phenomenon? Case Reports.

Ocular immunology and inflammation
2024

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Prenatal diagnosis
2024

Population-based surveillance of congenital anomalies over 40 years (1981-2020): Results from the Paris Registry of Congenital Malformations (remaPAR).

Journal of gynecology obstetrics and human reproduction
2024

Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.

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

Conn´s syndrome after kidney transplantation.

Bratislavske lekarske listy
2024

Bovine Aortic Arch with an Aberrant Left Vertebral Artery in a 3-Year-Old Boy with VACTERL Association: A Case Report.

The American journal of case reports
2024

Transient inhibition of sodium-glucose cotransporter 2 after ischemia/reperfusion injury ameliorates chronic kidney disease.

JCI insight
2024

Cutting-Edge Strategies for Renal Tumour-like Lesions in Granulomatosis with Polyangiitis: A Systematic Review.

Diagnostics (Basel, Switzerland)
2024

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Pediatric nephrology (Berlin, Germany)
2024

Hyperparathyroidism Jaw Tumor Syndrome, an Unforeseen Diagnosis.

JCEM case reports
2024

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

Indian journal of pathology &amp; microbiology
2024

Implication of endoplasmic reticulum stress and mitochondrial perturbations in remote liver injury after renal ischemia/reperfusion in rats: potential protective role of azilsartan.

Redox report : communications in free radical research
2024

An Unusual Case of Flank Pain Late in Life: A Case Report.

Cureus
2024

Renal Hypodysplasia/Aplasia 3 Caused by a Rare Variant of GREB1L With Incomplete Penetrance in a Chinese Family.

Urology
2024

SARS-CoV-2 may play a direct role in the pathogenesis of posterior reversible encephalopathy syndrome (PRES) associated with COVID-19: A CARE-compliant case report and literature review.

Medicine
2024

Salmonella enterica subspecies enterica serotype Typhimurium induced pyelonephritis and suspected multifocal myositis in a cat.

JFMS open reports
2024

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

Pediatrics

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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. Factors associated with spontaneous resolution and surgery in non-obstructive non-refluxing megaureters.
    Pediatrics international : official journal of the Japan Pediatric Society· 2026· PMID 41660778mais citado
  2. Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.
    Orphanet journal of rare diseases· 2026· PMID 41645214mais citado
  3. Altered Neural Activity and Functional Connectivity of Dorsolateral Prefrontal Cortex Associated With Cognitive Impairment in Patients With End-Stage Renal Disease.
    Journal of integrative neuroscience· 2026· PMID 41609046mais citado
  4. Characteristics of pediatric-onset anti-contactin1 antibody-associated autoimmune nodopathies with concomitant membranous nephropathy.
    BMC pediatrics· 2026· PMID 41545850mais citado
  5. Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature.
    Clinical genetics· 2026· PMID 40974269mais citado
  6. Cardiovascular Defects as the Initial Presentation in Two Prenatal Cases of De Novo Heterozygous PBX1 Variants.
    Am J Med Genet A· 2026· PMID 41930632recente
  7. [Clinical and genetic analysis of children with Silver-Russell syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi· 2026· PMID 41918381recente
  8. Morphometric analysis of retroperitoneal organs in individuals with unilateral congenital renal agenesis and renal hypoplasia.
    Pak J Med Sci· 2026· PMID 41737159recente
  9. Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.
    J Pediatr Endocrinol Metab· 2026· PMID 41612845recente
  10. Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review.
    SAGE Open Med Case Rep· 2025· PMID 41467049recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:97362(Orphanet)
  2. MONDO:0019980(MONDO)
  3. GARD:19374(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55789025(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

Hipoplasia renal, bilateral
Compêndio · Raras BR

Hipoplasia renal, bilateral

ORPHA:97362 · MONDO:0019980
Prevalência
Unknown
Herança
Autosomal dominant, Not applicable
CID-10
Q60.4 · Hipoplasia renal bilateral
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0431692
EuropePMC
Wikidata
Papers 10a
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