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.
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.
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
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
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)
Nucleus
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.
Variantes genéticas (ClinVar)
534 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 146 variantes classificadas pelo 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 — Displasia renal
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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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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
25 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Trends in End-Stage Kidney Disease Due to Reflux Nephropathy in Children and Young Adults.
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.
Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement: A Case Report and Literature Review.
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.
Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.
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.
Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.
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.
Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.
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
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Mayer-Rokitansky-Küster-Hauser Syndrome Associated With Diabetes Mellitus and Renal Anomalies in an Adolescent Girl: A Rare Case Report.
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📚 EuropePMC501 artigos no totalmostrando 199
Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
The Pan African medical journalAorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.
Current hypertension reports[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].
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Journal of medical case reports[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 surgeryIntrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.
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CureusAnalysis of the Efficacy of Elastography in Comparison with Dynamic Renal Nuclear Scintigraphy in the Evaluation of Unilateral Pelvi-Ureteric Junction Obstruction.
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La Pediatria medica e chirurgica : Medical and surgical pediatricsRetracted: Artificial Intelligence Algorithm-Based Computed Tomography Image of Both Kidneys in Diagnosis of Renal Dysplasia.
Computational and mathematical methods in medicineA case report of renal dysplasia with papillary adenoma.
Asian journal of surgeryPreeclampsia impedes foetal kidney development by delivering placenta-derived exosomes to glomerular endothelial cells.
Cell communication and signaling : CCSDisparities 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 MedicineCajal-like cell morphometry is not associated with pelvi-ureteric junction obstruction in adults.
BJU internationalSignificance of expeditious diagnosis and treatment following menarche in obstructed hemivagina and ipsilateral renal agenesis syndrome: A case report.
Radiology case reportsValidation of ICD-9-CM codes for major genitourinary birth defects in Military Health System administrative data, 2006-2014.
Birth defects researchCEP55-associated lethal fetal syndrome: a case report of a Chinese family.
Frontiers in geneticsPilot Study on the Molecular Pathogenesis of Pyeloureteral Junction Obstruction: Underdevelopment or Fibrosis?
Medicina (Kaunas, Lithuania)A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.
Indian journal of nephrologyClinicopathological and genetic features of Zinner's syndrome: two case reports and review of the literature.
Frontiers in urologyA GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.
Frontiers in geneticsThe function of miRNAs in the process of kidney development.
Non-coding RNA researchHDR syndrome, detected in the neonatal period by newborn hearing screening.
Auris, nasus, larynxHypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.
Frontiers in endocrinologyRisk 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 SurgeonsClinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.
Journal of endocrinological investigationDoes 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 perinatologyPosterior 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 healthMorphometric variations of Cajal-like cells are associated with pelviureteric junction obstruction in children.
BJU internationalClinical 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 sciencesPosterior urethral valves, pressure pop-offs, and kidney function: systematic review and meta-analysis.
World journal of urologyAhnak is required to balance calcium ion homeostasis and smooth muscle development in the urinary system.
Cell & bioscienceMcrD 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 AmericaLaparoscopic versus open pyeloplasty in paediatric pelvi-ureteric junction obstruction.
Journal of paediatrics and child health[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 geneticsObstructed Hemivagina and Ipsilateral Renal Agenesis Syndrome in a Neonate.
CureusBartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report.
Frontiers in pediatricsA 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 MedicineEarly pyeloplasty and excision of a multicystic kidney in a neonate with a complicated nephrostomy: A case report.
Annals of medicine and surgery (2012)OHVIRA syndrome: Early recognition prevents genitourinary complications.
Ultrasound (Leeds, England)Management dilemma in pelvi-ureteric junction obstruction: is transit time the answer?
Pediatric surgery internationalASH2L Controls Ureteric Bud Morphogenesis through the Regulation of RET/GFRA1 Signaling Activity in a Mouse Model.
Journal of the American Society of Nephrology : JASNBainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature.
CureusA homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
American journal of medical genetics. Part AA Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.
Children (Basel, Switzerland)Management of non-functioning kidney due to pelvi-ureteric junction obstruction in pediatric age group: an observational study.
Pediatric surgery internationalEctopic Ureter-A Retrospective Analysis, Symptom and Treatment.
Archivos espanoles de urologiaCase report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair.
Frontiers in geneticsRadiological and surgical correlation of pelviureteric junction obstruction in positional anomalies of the kidney in children.
Pediatric radiologyPotter 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 SocietyHypertension crisis as the first symptom of renovascular hypertension in children.
Italian journal of pediatricsVariants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis.
American journal of medical genetics. Part APredictive factors for survival in patients with oligohydramnios secondary to antenatal kidney disease.
Pediatric nephrology (Berlin, Germany)Single institution experience of cloacal malformation.
Journal of pediatric surgeryZinner's syndrome: Masquerading as pyonephrotic ectopic kidney.
Radiology case reportsEvaluating the impact of pop-off mechanisms in boys with posterior urethral valves.
Frontiers in pediatricsPrenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report.
MedicinePredictors of advanced chronic kidney disease in infancy after definitive vesicoamniotic shunting for congenital lower urinary tract obstruction.
Frontiers in pediatricsA Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.
GenesUltrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports.
Radiology case reportsCase report: BCL-2 and CD31 immunoexpression related to clinical and histopathological evaluation of renal dysplasia in a Welsh Corgi Puppy.
Frontiers in veterinary sciencePop-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 PediatricaCongenital malformations of the urinary tract: progression to chronic renal disease.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaUnilateral macrocystic dysplasia and contralateral agenesis in a monoamniotic twin.
Ceska gynekologieChronic Kidney Disease in Boys with Posterior Urethral Valves-Pathogenesis, Prognosis and Management.
BiomedicinesPeritoneal Dialysis and Inflammatory Demyelinating Polyneuropathy: A Correlation or Co-Incidence?
CureusLaparoscopic 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 nephrologyRisk factors for end stage renal disease in children with anorectal malformation and outcome comparison to children with isolated urological anomalies.
Journal of pediatric urology[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 geneticsFirst case of two supernumerary markers derived from chromosome 5 and chromosome 8.
Molecular cytogeneticsUtility 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 & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyLethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Pediatric nephrology (Berlin, Germany)Giant renal parapelvic cyst with pelvi-ureteric junction obstruction in an infant: challenges in diagnosis and laparoscopic management.
BMJ case reportsPrenatal 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 AssociationRenal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Kidney diseases (Basel, Switzerland)Renal Dysplasia with Hydronephrosis and Congenital Ureteral Stricture in Two Holstein-Friesian Calves.
Journal of comparative pathology[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 geneticsUrine Biochemistry of a Human Fetus with Urinary Tract Obstruction - A Case Report.
Fetal and pediatric pathologyDialysis access-associated steal syndrome with percutaneous endovascular arteriovenous fistula creation.
CVIR endovascularMultiple vas deferens with polyorchidism and many congenital malformations in a symptomatic 11-year-old male patient: a rare case report.
BMC urologyArtificial Intelligence Algorithm-Based Computed Tomography Image of Both Kidneys in Diagnosis of Renal Dysplasia.
Computational and mathematical methods in medicine[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 geneticsNew Insights from Metabolomics in Pediatric Renal Diseases.
Children (Basel, Switzerland)Contemporary diagnosis and management of pelvi-ureteric junction obstruction.
BJU internationalA rare variant of obstructed hemivagina and ipsilateral renal agenesis and its improvement of classification.
The journal of obstetrics and gynaecology research[Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation].
Zhonghua nei ke za zhiPrenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
European journal of medical geneticsLate renal allograft torsion in a pediatric transplant recipient.
Pediatric transplantationOcular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome.
Ophthalmic geneticsA novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.
Clinica chimica acta; international journal of clinical chemistry[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 geneticsPosterior Urethral Valves Outcomes Prediction (PUVOP): a machine learning tool to predict clinically relevant outcomes in boys with posterior urethral valves.
Pediatric nephrology (Berlin, Germany)[Perlman syndrome research progress].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsTemporary vesicostomy in pediatrics: What are the potential predictors of functional and morphological improvement of the upper urinary tract?
Journal of pediatric urologyRetroperitoneoscopic Nephrectomy in Pediatric Patients.
Journal of laparoendoscopic & advanced surgical techniques. Part ACochlear implantation in Branchiootorenal syndrome - case report and review of the literature.
Cochlear implants internationalThe 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 SocietyComprehensive Metabolic Signature of Renal Dysplasia in Children. A Multiplatform Metabolomics Concept.
Frontiers in molecular biosciencesFirst case report of spontaneous perinatal gastric perforation in premature neonate with potter sequence and syndrome.
International journal of surgery case reportsA rare case of symptomatic hydrometrocolpos in a 5y old female.
Urology case reportsA case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Answers.
Pediatric nephrology (Berlin, Germany)A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Questions.
Pediatric nephrology (Berlin, Germany)Segmental multicystic dysplastic kidney: Two case reports.
Pediatrics international : official journal of the Japan Pediatric SocietyPathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyEarly Renal Ultrasound in Congenital Solitary Kidney May Help to Select Patients at Lower Risk of Associated Vesicoureteral Reflux.
NeonatologyAssociation of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyHybrid Retroperitoneoscopic Pyeloplasty for Congenital Ureteropelvic Junction Obstruction in Infants Weighing Less than 10 kg.
Journal of laparoendoscopic & advanced surgical techniques. Part AUlcerative Colitis of the Neovagina in a Toddler with Cloaca and Chronic Kidney Disease.
European journal of pediatric surgery reportsA novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature.
American journal of ophthalmology case reportsElevated sweat chloride test: is it always cystic fibrosis?
Italian journal of pediatricsUnilateral Urogenital Disontogeny in a Dog.
Case reports in veterinary medicineAssociações
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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.
- Trends in End-Stage Kidney Disease Due to Reflux Nephropathy in Children and Young Adults.
- Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement: A Case Report and Literature Review.
- Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.
- Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.
- Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.
- Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review.
- Mayer-Rokitansky-Küster-Hauser Syndrome Associated With Diabetes Mellitus and Renal Anomalies in an Adolescent Girl: A Rare Case Report.
- Adult Diagnosis of Solitary Kidney and Renal Dysplasia in a Male Born Prematurely as a Twin: A Case Report.
- Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93108(Orphanet)
- MONDO:0019638(MONDO)
- GARD:19173(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- 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
