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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
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
Nucleus
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.
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
Nucleus
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.
Variantes genéticas (ClinVar)
643 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hipoplasia renal, bilateral
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Factors associated with spontaneous resolution and surgery in non-obstructive non-refluxing megaureters.
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.
Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.
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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.
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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]
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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.
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Journal of endourologyConsciousness disturbance in patients with chronic kidney disease: Rare but potentially treatable complication. Clinical and neuroradiological review.
Behavioural brain researchSirenomelia-Challenges and Treatment Approach in a Rare Case.
Birth defects researchThe accessory renal arteries: A systematic review with meta-analysis.
Clinical anatomy (New York, N.Y.)When a Horseshoe Is Not a Lucky Find.
Pediatric emergency careA rare variant of zinner syndrome with ejaculatory duct cyst: case report and challenges in diagnosis and management.
BMC urologyUremic Encephalopathy Presented as Stroke: The Value of Lentiform Fork Sign.
CureusNatural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study.
Journal of clinical medicineGalloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.
Ophthalmic geneticsAltered renal vascular patterning reduces ischemic kidney injury and limits vascular loss associated with aging.
bioRxiv : the preprint server for biologyExome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.
Prenatal diagnosisPractical Step-by-step SYNAPSE VINCENT Rendering of Three-dimensional Graphics in Horseshoe Kidney with Bilateral Varicoceles.
JMA journalRenal Transplantation with Triple Ureter Implantation into the Urinary Bladder after Dissolving a Bilateral Ureterocutaneostomy for Posterior Urethral Valves.
Urologia internationalisPrenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series.
Archives of gynecology and obstetricsPathological 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 KinderchirurgieRefining 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.)Bilateral duplex kidney and ureter with multiple stones: a case report.
BMC urologyA rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases.
BMC pregnancy and childbirthEAST (Epilepsy, Ataxia, Sensorineural Hearing Loss, and Renal Tubulopathy) Syndrome: A Rare Association Between Brain, Ear, and Kidney.
CureusPosterior urethral valves: Clinical audits of presentation, diagnostic and therapeutic intervention in a nigerian teaching hospital.
International urology and nephrologyMayer-Rokitansky-Kuster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report.
JNMA; journal of the Nepal Medical AssociationFetal Autopsy: Insights Into the Spectrum of Dysraphisms With Associated Anomalies.
CureusEffect 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 MDPIEarly presentation of urological abnormalities in a case of Wolfram syndrome.
BMJ case reportsPrenatal and postnatal imaging for early detection of sirenomelia: A case study.
Journal of clinical ultrasound : JCUAnatomical and Developmental Abnormalities of Ureters and Renal Pelvis Existing with Accessory Renal Arteries: Cadaveric Study.
Annals of African medicinePosterior Urethral Valves in a Healthy-Appearing Athletic Adult: A Case Report.
CureusSerous Atrophy of Bone Marrow in the Feet Diagnosed via Magnetic Resonance Imaging: A Case Report.
Journal of the American Podiatric Medical AssociationDisturbed Dynamic Brain Activity and Neurovascular Coupling in End-Stage Renal Disease Assessed With MRI.
Journal of magnetic resonance imaging : JMRICochlear 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 SurgeryA case report on posterior reversible encephalopathy syndrome (PRES) in an elderly female.
Annals of medicine and surgery (2012)Calcineurin inhibitor-induced pain syndrome (CIPS) affects the hips in a renal transplant recipient: A case report.
Radiology case reportsConcurrent Cardiac and Renal Anomalies in Waardenburg Syndrome Type 1: A Report of a Rare Case.
Cureus[Clinical analysis of seven cases of primary hyperoxaluria type 1].
Zhonghua nei ke za zhiBilateral renal agenesis: fetal intervention and outcomes.
Pediatric nephrology (Berlin, Germany)Role of the CDKL1-SOX11 signaling axis in acute kidney injury.
American journal of physiology. Renal physiologyPersistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome.
CureusSecondary pseudohypoaldosteronism: a 15-year experience and a literature review.
Pediatric nephrology (Berlin, Germany)Robot-assisted Partial Nephrectomy With Selective Artery Clamping for Renal Cell Carcinoma in Horseshoe Kidney.
In vivo (Athens, Greece)Hypogonadotropic hypogonadism with Zinner syndrome: a coincidence or a consequence?
BMJ case reportsLong-Term Outcomes, Including Fetal and Neonatal Prognosis, of Renal Oligohydramnios: A Retrospective Study over 22 Years.
The Journal of pediatricsUrodynamic Abnormalities in Children with Primary Bilateral Vesicoureteral Reflux.
Archivos espanoles de urologiaDiagnosis of renal lymphoma by Wright-Giemsa-stained cytocentrifuged urine evaluation in a cat.
The Canadian veterinary journal = La revue veterinaire canadienneAcute Kidney Injury in a Previously Healthy 56-Year-Old Male Following a Direct Visual Internal Urethrotomy of a Bulbar Stricture.
Cureus[Clinical analysis of 80 patients with oblique vaginal septum syndrome].
Zhonghua fu chan ke za zhiDe novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.
BMC medical genomicsA novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.
Prenatal diagnosisPunctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies.
Seminars in ophthalmologyPrenatal diagnosis and outcomes for fetuses with suspected pelvic kidney.
European journal of obstetrics, gynecology, and reproductive biology[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 surgeryAutoimmune Liver Disease Associated Uveitis: An Extrahepatic Manifestation or a Polyautoimmunity Phenomenon? Case Reports.
Ocular immunology and inflammationCase report of fetus with Lowe syndrome: Expanding the prenatal phenotype.
Prenatal diagnosisPopulation-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 reproductionDetection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyConn´s syndrome after kidney transplantation.
Bratislavske lekarske listyBovine 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 reportsTransient inhibition of sodium-glucose cotransporter 2 after ischemia/reperfusion injury ameliorates chronic kidney disease.
JCI insightCutting-Edge Strategies for Renal Tumour-like Lesions in Granulomatosis with Polyangiitis: A Systematic Review.
Diagnostics (Basel, Switzerland)Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
Pediatric nephrology (Berlin, Germany)Hyperparathyroidism Jaw Tumor Syndrome, an Unforeseen Diagnosis.
JCEM case reportsMulticystic renal dysplasia, a histomorphological spectrum: Seven years experience from a tertiary care hospital.
Indian journal of pathology & microbiologyImplication 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 researchAn Unusual Case of Flank Pain Late in Life: A Case Report.
CureusRenal Hypodysplasia/Aplasia 3 Caused by a Rare Variant of GREB1L With Incomplete Penetrance in a Chinese Family.
UrologySARS-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.
MedicineSalmonella enterica subspecies enterica serotype Typhimurium induced pyelonephritis and suspected multifocal myositis in a cat.
JFMS open reportsSurvival of Infants With Severe Congenital Kidney Disease After ECMO and Kidney Support Therapy.
PediatricsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- 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
- Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.
- Altered Neural Activity and Functional Connectivity of Dorsolateral Prefrontal Cortex Associated With Cognitive Impairment in Patients With End-Stage Renal Disease.
- Characteristics of pediatric-onset anti-contactin1 antibody-associated autoimmune nodopathies with concomitant membranous nephropathy.
- Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature.
- Cardiovascular Defects as the Initial Presentation in Two Prenatal Cases of De Novo Heterozygous PBX1 Variants.
- [Clinical and genetic analysis of children with Silver-Russell syndrome].
- Morphometric analysis of retroperitoneal organs in individuals with unilateral congenital renal agenesis and renal hypoplasia.
- Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.
- Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:97362(Orphanet)
- MONDO:0019980(MONDO)
- GARD:19374(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
