Agenesia renal (AR) é uma forma de malformação do trato renal caracterizada pela completa ausência de desenvolvimento de um ou ambos os rins (AR unilateral ou AR bilateral respectivamente), acompanhada de ausência(s) de ureter(es).
Introdução
O que você precisa saber de cara
Agenesia renal (AR) é uma forma de malformação do trato renal caracterizada pela completa ausência de desenvolvimento de um ou ambos os rins (AR unilateral ou AR bilateral respectivamente), acompanhada de ausência(s) de ureter(es).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 44 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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
12 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development
Secreted, extracellular space, extracellular matrix, basement membrane
Bifid nose, with or without anorectal and renal anomalies
A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity)
Endoplasmic reticulum membrane
Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal embryonic kidney development, and for normal development of the urogenital tract, including uterus and part of the oviduct and the upper vagina in females, and epididymis and vas deferens in males. Activates a signaling cascade in the metanephric mesenchyme that induces tubulogenesis. Acts upstream of WNT4 in the signaling pathw
Secreted, extracellular space, extracellular matrixSecreted
Involved in extracellular matrix organization (By similarity). Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development (By similarity). Involved in brain organization and function (By similarity)
Cell membrane
Fraser syndrome 1
A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.
Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507). Involved in the development of eyelids and the anterior segment of the eyeballs (PubMed:29688405, PubMed:30802441)
Cell membrane
Fraser syndrome 2
A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.
Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:25868050, PubMed:800600
Secreted, extracellular space, extracellular matrix
Microphthalmia, syndromic, 6
A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Coreceptor for GDNF, a neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:10829012, PubMed:31535977). GDNF-binding leads to autophosphorylation and activation of the RET receptor (PubMed:31535977)
Cell membraneGolgi apparatus, trans-Golgi networkEndosomeEndosome, multivesicular body
Renal hypodysplasia/aplasia 4
An autosomal recessive, severe congenital anomaly of the kidney and urinary tract characterized by bilateral renal agenesis, and severely reduced or absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin. Some affected individuals have limb contractures and joint dislocations. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period.
Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons
MembraneCell membrane
Renal hypodysplasia/aplasia 1
A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.
Plays a major role in early metanephros and genital development
Membrane
Renal hypodysplasia/aplasia 3
A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease.
Neurotrophic factor that regulates central nervous development and function
Secreted
Renal hypodysplasia/aplasia 2
A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.
Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN, ARTN, PSPN and GDF15) (PubMed:20064382, PubMed:20616503, PubMed:20702524, PubMed:21357690, PubMed:21454698, PubMed:24560924, PubMed:28846097, PubMed:28846099, PubMed:28953886, PubMed:31118272). In contrast to most receptor tyrosine kinases, RET requires not onl
Cell membraneEndosome membrane
Hirschsprung disease 1
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death (PubMed:15178406). In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types (PubMed:28157540)
CytoplasmCell membraneApical cell membraneBasolateral cell membraneCell junction
Congenital anomalies of the kidney and urinary tract 1
A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.
Variantes genéticas (ClinVar)
939 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 73 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
51 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 — Agenesia renal
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 873
Morphometric analysis of retroperitoneal organs in individuals with unilateral congenital renal agenesis and renal hypoplasia.
Our aim was to determine the changing anatomy of the retroperitoneal organs in the Unilateral Congenital Renal Agenesis (UCRA) and Renal Hypoplasia (RH) groups and to investigate the presence of morphological biomarkers by evaluating the functional capacity of the kidney in the patient groups. The study was conducted retrospectively at Istanbul Dr. Lütfi Kırdar City Hospital, in collaboration with the Departments of Radiology, Nephrology and Anatomy. CT images of individuals with UCRA and RH followed in the nephrology clinic were retrospectively reviewed and anatomical-topographic evaluations were performed. Biomarkers indicating renal function were obtained from laboratory test results. Statistical significance was accepted as p<0.05. The study included 18 individuals in the agenesis group, 30 in the hypoplasia group, and 25 in the control group. Compensatory hypertrophy was significantly observed in all renal morphometric measurements in the healthy side kidney. It was observed that the estimated glomerular filtration rate (eGFR) decreased from the control group to the agenesis group. The anteroposterior diameter of the inferior vena cava was narrower in individuals with CAKUT (n=48) than in controls (n=25) (CAKUT: 14.50±3.83, Control 17.10±3.80, p=0.007). Cortex thickness was positively correlated with eGFR and negatively correlated with creatinine in both the UCRA group and the HP group. The cortex thickness/mediolateral diameter ratio was negatively correlated with urea, uric acid, creatinine and positively correlated with eGFR. A narrowing of the VCI-AP diameter was notable in patients with CAKUT. Cortical thickness was considered important in the assessment of renal function, and the ratio of cortical thickness to mediolateral diameter (Cx/ML) could be used as a potential reference.
Non-Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis.
Loss-of-function variants in FREM1 have been demonstrated in Manitoba oculotrichoanal syndrome (MOTA) and bifid nose, renal agenesis, and anorectal malformations (BNAR) syndrome, but the broader phenotypic spectrum of FREM1 variants remains incompletely characterized. In this study, we report compound heterozygous variants in a prenatal case of bilateral renal agenesis. Exome sequencing revealed biallelic FREM1 variants: c.5622G>A (p.Trp1874*) and c.3274+4A>G (p.Gly1030_Ile1091del). Minigene and bioinformatic analyses confirmed that the splice site variant induces aberrant splicing and alters transcriptional expression levels. This finding underscores the crucial role of non-canonical splice site variants in FREM1 in the pathogenesis of bilateral renal agenesis.
Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.
Herlyn-Werner-Wunderlich syndrome (OHVIRA syndrome) is a rare congenital anomaly involving the Müllerian and renal systems, classically presenting as uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Due to its rarity and variable presentation, the diagnosis is frequently delayed or missed, leading to complications such as hematocolpos, pelvic pain, and endometriosis. This case highlights a diagnostically challenging presentation of OHVIRA syndrome in a 46-year-old female, who was initially admitted for suspected renal obstruction but was later found to have renal agenesis and a tubo-ovarian abscess associated with OHVIRA syndrome. Ultrasound and CT revealed left renal agenesis and a complex pelvic mass, while MRI confirmed OHVIRA syndrome with uterus didelphys, an obstructed hemivagina, and an ipsilateral tubo-ovarian abscess. Imaging modalities, including ultrasound, CT, and MRI, played a pivotal role in recognizing the underlying congenital anomaly. This case underscores the importance of maintaining a high index of suspicion in cases of chronic and acute pelvic pain with renal anomalies and the indispensable role of radiology in the timely recognition of complex congenital disorders. Furthermore, it emphasizes the need for clinicians to consider congenital urogenital anomalies even in adult women, as delayed diagnosis can result in significant gynecological and urological complications.
False-positive PSMA uptake from urinary reflux into a seminal vesicle cyst in renal agenesis.
Prostate-specific membrane antigen positron emission tomography is increasingly used in the evaluation of suspected prostate cancer, but radiotracer activity may occur in benign or congenital conditions and lead to false-positive interpretation. Although urinary tracer activity is often considered in patients with prior prostate or urinary tract surgery, congenital genitourinary anomalies can produce a similar imaging pitfall in patients without previous surgical intervention. We describe a seventy-three-year-old man with an elevated prostate-specific antigen level, no history of prior prostate or urinary tract surgery, and an indeterminate lesion on prostate magnetic resonance imaging who demonstrated focal tracer activity near the right seminal vesicle on prostate-specific membrane antigen positron emission tomographic imaging. Additional post-void imaging showed radiotracer accumulation within the right seminal vesicle region, and correlation with magnetic resonance imaging suggested reflux of urine into a cystic seminal vesicle remnant containing a small calculus. Further assessment revealed absence of the right kidney, consistent with a congenital renal tract anomaly linking the seminal vesicle abnormality and urinary reflux. Biopsy demonstrated benign prostatic tissue, confirming reflux of urine rather than malignancy as the cause of radiotracer uptake. This case highlights a rare interpretative pitfall in a patient without prior prostate surgery and emphasises that awareness of congenital anomalies involving the seminal vesicles can improve diagnostic confidence and reduce unnecessary biopsy in future cases.
Congenital lumbar and umbilical hernias in lumbo-costo-vertebral syndrome with ipsilateral renal agenesis: A rare case report with literature review.
Congenital lumbar hernia (CLH) is a rare condition in infancy, often associated with lumbo-costo-vertebral syndrome (LCVS), which combines vertebral, rib, and abdominal wall anomalies. Genitourinary defects are uncommon and rarely documented. A 1-year-old girl presented with a left-sided CLH, small umbilical hernia, and prominent left anterior ribs protrusion manifesting as a chest wall bulge. Radiologic workup showed T10-T11 hemivertebrae, fused left laminae and ribs (10th-11th), scoliosis convex to the hernia side, and ipsilateral renal agenesis, confirming LCVS with a genitourinary anomaly. Elective open surgical repair included meshplasty of the left lumbar defect and excision of the protruding fused left anterior rib segment through the same incision, with concurrent umbilical hernia repair through a circumferential periumbilical incision. Recovery was uneventful. This case illustrates the syndromic nature of CLH within LCVS and underscores the need to screen for associated anomalies, particularly genitourinary defects such as renal agenesis. Imaging beyond ultrasound is often required to delineate skeletal and myofascial abnormalities. An open approach was favored to allow simultaneous excision of the protruding fused left rib segment and durable mesh reinforcement of a ~5 cm defect; this strategy achieved excellent outcomes. The coexistence of umbilical hernia with LCVS and CLH may be incidental but could broaden the recognized phenotypic spectrum and, to our knowledge, has not been previously reported. Awareness of LCVS in infants with CLH facilitates evaluation for associated anomalies and guides timely surgical management. Early recognition and repair can yield favorable results.
Publicações recentes
Zinner Syndrome: An Incidental Finding.
Herlyn-Werner-Wunderlich syndrome in an adolescent with epilepsy: Diagnostic and surgical challenges-first case report from Palestine.
FREM2 as a candidate gene for posterior urethral valves: Evidence from a case-parent cohort.
Zinner syndrome associated with concealed penis and azoospermia in an adolescent: a case report and literature review.
Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities.
📚 EuropePMC919 artigos no totalmostrando 199
Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.
Radiology case reportsFalse-positive PSMA uptake from urinary reflux into a seminal vesicle cyst in renal agenesis.
Radiology case reportsCongenital lumbar and umbilical hernias in lumbo-costo-vertebral syndrome with ipsilateral renal agenesis: A rare case report with literature review.
International journal of surgery case reportsLate-onset OHVIRA syndrome in a 49-year-old woman with severe dysmenorrhea: a case report on vaginoscopic management.
Frontiers in medicineRight ureterovesical junction cyst associated with ipsilateral renal agenesis: a case report of a possible Wolffian duct maldevelopment.
Frontiers in medicineAssessment of quality of life in patients with Müllerian anomalies at a referral center in Colombia.
Pediatric surgery internationalIntegrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.
GenesObstructed Hemivagina with Ipsilateral Renal Anomaly: Radiological Diagnosis, Outcome of Surgical Management and Literature Review.
Diagnostics (Basel, Switzerland)Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study.
Paediatric and perinatal epidemiologyMorphometric analysis of retroperitoneal organs in individuals with unilateral congenital renal agenesis and renal hypoplasia.
Pakistan journal of medical sciencesSurgical Management and Outcomes of Unilateral Genital Tract Obstruction with Ipsilateral Renal Anomaly Syndrome: A Retrospective Study.
International journal of women's healthVariants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies.
Human geneticsCombined ultrasound and scintigraphic assessment of coexisting pelvic and cross-fused renal anomalies in a neonate: A case report.
Radiology case reportsGenetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China.
American journal of medical genetics. Part ARenal Ultrasonography Screening: A Comparison Between Male and Female Cohorts of University Students.
CureusReproductive outcomes after surgical correction of congenital obstructive genital tract anomalies: A systematic review and quantitative pooled analysis of published data.
European journal of obstetrics, gynecology, and reproductive biologyDiagnostic challenge: functional non-communicating rudimentary horn with ovarian endometriosis and ipsilateral renal agenesis.
BMC women's healthVaginal septum in women: A review of diagnosis, management, and obstetric outcomes.
Tzu chi medical journalObstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome: A Case Report.
CureusPrevalence, 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 ObstetricsUltrasound-Guided Hysteroscopic Uterine Evacuation for Early Missed Abortion in a Patient with Uterus Didelphys: Overcoming Anatomical Challenges.
Journal of minimally invasive gynecologyRecurrent Vulvovaginitis as an Unusual Presentation of Diagnosed Obstructed Hemivagina and Ipsilateral Renal Anomalies (OHVIRA) Syndrome in an Adolescent: A Case Report and Review of the Literature.
Journal of clinical medicineA study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography.
BMC pregnancy and childbirthRobot-Assisted Laparoscopic Pyeloplasty (RALP) in Infants: Technical Modifications, Surgical Experience, and Outcomes.
Journal of laparoendoscopic & advanced surgical techniques. Part ASirenomelia 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.
CureusZinner syndrome: Case report and brief review of the literature.
Radiology case reportsFibroids in obstructed hemivagina and ipsilateral renal anomaly-like syndrome: Successful hysterectomy and vaginal septoplasty in a kidney transplant recipient with uterus didelphys, vaginal septum and renal agenesis.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsDiagnostic Challenges of OHVIRA Syndrome-A Case Report.
Journal of clinical medicineCase Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene.
Frontiers in medicinePyometrocolpos: A Case Series and Proposed Management Framework for the Pediatric Infectious Diseases Consultant.
The Pediatric infectious disease journalDysmenorrhoea presentation in Herlyn-Werner-Wunderlich syndrome: A case study.
JPMA. The Journal of the Pakistan Medical AssociationHerlyn-Werner-Wunderlich (HWW) Syndrome in an Adolescent.
CureusA Rare Autopsy Finding of Müllerian and Renal Agenesis Linked to Suspected AMHR2 Pathway Disruption.
CureusPrenatal imaging of upper urinary tract abnormalities: when is MRI useful?
Pediatric radiologyCorrelation between the clinical features of patients with spina bifida and the findings of DMSA scintigraphy.
European journal of pediatricsOvercoming the challenge of high surgical risk: Minimally invasive aspiration for Zinner syndrome in a geriatric patient with severe coronary artery disease.
Radiology case reportsProlonged hypotension in children with bilateral kidney absence: a case series and pathophysiologic insights.
Pediatric nephrology (Berlin, Germany)Single Functioning Kidney Patients Face Increased Odds for Defined Complications Following Total Knee Arthroplasty.
The Journal of arthroplastyEvolution of renal function after ureteroscopy in solitary kidney.
World journal of urologySerial amnioinfusions as a regenerative therapy for pulmonary hypoplasia in fetuses with intrauterine renal failure: rationale, techniques, and ethical considerations.
Best practice & research. Clinical obstetrics & gynaecologySuccessful preterm delivery in a patient with bicornuate uterus and right renal agenesis: Diagnostic and clinical perspectives.
Radiology case reportsMayer-Rokitansky-Küster-Hauser Syndrome: Where Does Gynaecological Pathology End and Renal Disease Begin? The Value of a Comprehensive View. Two Case Reports with Adult Onset Kidney Disease and A Review of the Literature.
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaShortened and Hypomineralized Bones, Renal Agenesis, and a Heart Defect: Prenatal Diagnosis of a GLI3 Variant.
Prenatal diagnosisA rare twist in ohvira syndrome: When menstrual blood takes an unusual route: A case report.
Radiology case reportsUnusual Triad of Unilateral Renal Agenesis, Ipsilateral Ureterocele, and a Blind-Ending Distal Ureter in an Adult: A Case Report.
CureusSpinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature.
Congenital anomaliesA rare anomaly of the Mullerian system: OHVIRA syndrome. Comprehensive literature review and report of seven cases.
Urology journalMOTA syndrome diagnosis following unexpected neonatal death.
BMJ case reportsThe Hidden Triad: Decoding Zinner Syndrome Through Computed Tomography Urography and Magnetic Resonance Imaging.
CureusFrem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis.
Scientific reportsPrenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.
Orphanet journal of rare diseases[Robot-assisted vesiculectomy for Zinner syndrome].
Urologiia (Moscow, Russia : 1999)Compound inheritance of rare and common RET variants in a Chinese family with three unfavorable pregnancies involving Hirschsprung's disease.
Taiwanese journal of obstetrics & gynecologyNovel Candidate Genes Identified in Men with Congenital Absence of Vas Deferens without CFTR Gene Abnormalities.
Reproductive sciences (Thousand Oaks, Calif.)A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.
Prenatal diagnosisPatterns and Clinical Outcomes of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants.
CureusAirway management strategies in a pediatric patient with MURCS association: A case report.
World journal of clinical casesOphthalmic Changes in the Offspring of Pregnant Women with Gestational Diabetes Mellitus or Diabetes Mellitus - A Systematic Review.
Clinical ophthalmology (Auckland, N.Z.)Zinner syndrome: unilateral renal agenesis with unique findings in a 19-year-old patient from Pakistan - a case report with literature review.
Annals of medicine and surgery (2012)Genetic Investigation of Fetuses With Isolated Unilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.
Prenatal diagnosisDiagnosis of Zinner syndrome: A case of rare occurrence.
Radiology case reportsCystic Teratoma with Neuroectodermal Cyst and Choroid Plexus Like Epithelium, A Rare Entity in the Head and Neck: Case Report with Literature Review.
International journal of surgical pathologyIdentification of a novel SALL4 variant associated with unilateral renal agenesis and right renal pelvis duplication by prenatal exome sequencing: a case report.
Frontiers in pediatricsSubdiaphragmatic Ectopic Kidney: A 12-Year Follow-Up Case Report.
Clinical case reportsPrenatal detection rate of congenital anomalies over a period of 30 years: A population-based registry study.
European journal of obstetrics, gynecology, and reproductive biologyManagement Strategies for Seminal Vesicle Cysts in Zinner Syndrome: Insights From Two Cases.
CureusA Complex Case Report of OHVIRA syndrome: Uterine didelphys, obstructed hemivagina, and renal agenesis.
Radiology case reportsCystic Vaginal and Adnexal Masses: An Unusual Sign of Renal Agenesis.
Journal of minimally invasive gynecologySerial Amnioinfusion Therapy for Treatment of Congenital Bilateral Renal Agenesis-A Systematic Review.
Prenatal diagnosisPeritoneal Dialysis Catheters: Review of Neonatal Patient Outcomes.
The Journal of surgical researchRobotic-assisted management of Zinner syndrome: a case report and review of the surgical approach.
Journal of surgical case reportsUnilateral Renal Agenesis: Prenatal Diagnosis and Postnatal Issues.
Diagnostics (Basel, Switzerland)Kidney Agenesis and Müllerian Duct Anomalies: A Report of Two Cases and Literature Review.
Acta medica LituanicaTerm Pregnancy in Herlyn-Werner-Wunderlich Syndrome: Successful Management of Congenital Obstructed Hemivagina and Ipsilateral Renal Agenesis (OHVIRA).
The American journal of case reportsObstructed hemi-vagina and ipsilateral renal anomaly syndrome in Vietnam: an overview from clinical diagnosis approach to management: a case report.
Journal of medical case reportsZinner Syndrome Presenting With Chronic Pelvic Pain and Ejaculatory Dysfunction.
IJU case reportsNon-Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis.
Clinical geneticsA surveillance-based epidemiological study of renal agenesis in 25 million births in china, 2007-2020.
BMC pregnancy and childbirthThoracic renal ectopia in children: A case report and literature review.
Urology case reportsA comparison of outcomes of urinary tract abnormalities detected by the routine second and a routine third trimester ultrasound scan.
European journal of obstetrics, gynecology, and reproductive biologyLung Growth and Intrapulmonary Circulation in Fetuses With Anhydramnios Due to Severe Renal Anomalies Treated With Serial Amnioinfusions.
Prenatal diagnosisNew Anhydramnios after 22 Weeks and Pulmonary Hypoplasia.
Fetal diagnosis and therapyA Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.
Molecular genetics & genomic medicineRetroperitoneal cysts with congential, ipsilateral renal agenesis of left kidney: a case report.
Annals of medicine and surgery (2012)A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.
Orphanet journal of rare diseasesCase Report: Diagnostic overlap of OHVIRA syndrome and Gartner duct cyst: challenges in imaging and management.
Frontiers in pediatricsScreening Practices for Müllerian Anomalies in Patients With Known Renal or Urologic Anomalies: A Retrospective Chart Review.
Journal of pediatric surgeryValacyclovir-induced neurotoxicity and nephrotoxicity in an elderly patient with a history of nephrectomy: a case report.
BMC nephrologyA combined endoscopic and ultrasonographic approach to a complex U4a uterine anomaly.
Facts, views & vision in ObGynEmbryological-clinical classification of female genital tract malformations - a review and update.
Reproductive biomedicine onlinePrenatal diagnosis and postnatal outcomes of congenital kidney and urinary tract anomalies: results from a tertiary center.
BMC pregnancy and childbirthSequential Amnioinfusion Protocol for Treating Fetal Renal Failure: Impact on Survival and Transition to Renal Transplantation.
Fetal diagnosis and therapyThree cases of congenital diseases in the children of female semiconductor workers at a company recognized by the Occupational Disease Adjudication Committee.
Annals of occupational and environmental medicineHerlyn Werner Wunderlich Syndrome/OHVIRA: A Rare Case Report with Successful Laparoscopy Assisted Vaginoplasty.
Journal of obstetrics and gynaecology of IndiaAssociation of trigger thumb with congenital malformations and developmental milestones among children in a nationwide birth cohort.
Scientific reportsZinner syndrome: Clinical insights from Western Norway.
UrologiaClinical outcomes and risk factors in pediatric patients with solitary functioning kidney: a comparative analysis of congenital and acquired etiologies.
Frontiers in pediatricsUnilateral Inguinal Swelling in a Young Female: An Unusual Presentation of MURCS.
Journal of human reproductive sciencesCase report: a case of hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome.
Frontiers in geneticsParticularities in the "Oldie but Goldie" Tc-99m DMSA Renography: A Retrospective Reference Centre Overview of 931 Children.
Diagnostics (Basel, Switzerland)Di-Cavitary Twin Pregnancy in Didelphys Uterus with Associated Renal Agenesis.
AJP reportsThe role of chromatin-related epigenetic modulations in CAKUT.
Current topics in developmental biologyClinical features and surgical options of obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome: A systematic review and a meta-analysis of prevalence.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsZinner syndrome in adult male: a rare case report.
Translational andrology and urologyZinner syndrome, a rare congenital urogenital tract malformation: the first reported case in Indonesia.
Fukushima journal of medical scienceThe Volume of Fluid Corresponding to Each Centimeter of Amniotic Fluid Index Changes throughout Pregnancy: A Prospective Cohort Observational Study.
Fetal diagnosis and therapyCystic dysplasia of the rete testis: A rare mimicker of malignancy in pediatric patients.
Urology case reportsLong overlooked: Adult VACTERL association unmasked by a large patent ductus arteriosus.
Radiology case reportsZinner Syndrome: Case report of atypical symptoms and literature.
Urology case reportsAcute urinary retention in an adolescent female with Herlyn-Werner-Wunderlich syndrome.
Annals of medicine and surgery (2012)Zinner syndrome: report of a case and whole exome sequencing.
Basic and clinical andrologyRole of Intravenous Pyelography in the Evaluation of Developmental Renal Anomalies.
Journal of pharmacy & bioallied sciencesHerlyn Werner Wunderlich syndrome. Case report.
Taiwanese journal of obstetrics & gynecologyFetal-to-fetal kidney transplantation in utero.
Communications biologyHerlyn-Werner-Wunderlich Syndrome Presenting as an Incidental Retrovesical Cyst in an Infant: A Case Report.
CureusSurviving bilateral renal agenesis: Upper intestinal atresias preserving lung development without severe oligohydramnios.
Pediatrics international : official journal of the Japan Pediatric SocietyBladder Outcomes in Bilateral Renal Agenesis.
Pediatric transplantationAnatomical Variations, Genitourinary Anomalies and Clinical Presentations in Obstructed Hemivagina and Ipsilateral Renal Anomaly Syndrome: Case Series.
Journal of the Korean Society of RadiologyObstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome: A Diagnosis in the First Year of Life.
CureusRobot-assisted radical prostatectomy in a patient with Zinner syndrome.
International journal of surgery case reportsZinner syndrome with seminal vesicles stones: A rare case report and literature review.
International journal of surgery case reportsZinner syndrome unveiled: Ectopic ureter and seminal vesicle cyst leading to urinary dysfunction: A case report.
Radiology case reportsZinner syndrome incidentally diagnosed in a man with ureteropelvic junction stone and hydronephrosis: A case report.
Urology case reportsDiagnosis and surgical treatment of obstructed hemivagina and ipsilateral renal anomaly in a dog: a case report.
Frontiers in veterinary scienceRetroperitoneal Müllerian cyst causing uterine protrusion in a teenage girl.
Taiwanese journal of obstetrics & gynecologyEndometriosis Coinciding with Uterus Didelphys and Renal Agenesis: A Literature Review.
Journal of clinical medicineObstructed Hemivagina, Uterine Didelphys, and Ipsilateral Renal Agenesis: A Case Report of OHVIRA Syndrome.
Acta medica LituanicaZinner Syndrome in a Young Male: A Case Report and Review of the Literature.
CureusCongenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.
Journal of medical geneticsZinner syndrome: A mesonephric duct anomaly with renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction.
Medical journal, Armed Forces IndiaCRKL Gene Deletion in Familial Zinner (OSVIRA) and OHVIRA Syndromes.
PediatricsAssessing masked hypertension and ambulatory arterial stiffness index in children congenital kidney malformations.
Clinical and experimental nephrologyComplete bicorporeal uterus, double cervix, longitudinal obstructing vaginal septum: an integrated approach for one-stop diagnosis and ultrasound-guided endoscopic hymen-sparing treatment.
Facts, views & vision in ObGynImaging in Zinner Syndrome, A Case Series: The Wolf in Sheep's Clothing.
Urology case reportsSirenomelia-Challenges and Treatment Approach in a Rare Case.
Birth defects researchHedgehog-dependent and hedgehog-independent roles for growth arrest specific 1 in mammalian kidney morphogenesis.
Development (Cambridge, England)Remnant ureter abscess linked to obstructed hemivagina and ipsilateral renal anomaly syndrome.
The journal of obstetrics and gynaecology researchExome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.
Prenatal diagnosisAnesthetic Challenges in a Pediatric Patient With Chronic Kidney Disease Complicated by Dilated Cardiomyopathy Undergoing Non-cardiac Surgery.
CureusA Case of OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly) Syndrome Diagnosed After Signs of Infection During Pregnancy.
CureusDelayed diagnosis of Herlyn-Werner-Wunderlich syndrome with diffuse adenomyosis in bilateral horns.
Radiology case reportsZinner syndrome in childhood and adolescence: Report of four cases and review of the literature.
Journal of pediatric urologyKallmann syndrome: Diagnostics and management.
Clinica chimica acta; international journal of clinical chemistryEctopic Pregnancy in the Outer Aspect of the Right Lobe of the Liver Coexisted With Unicornuate Uterus and Renal Agenesis.
Journal of minimally invasive gynecologyContribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi-Center Cohort Study.
Prenatal diagnosisHerlyn Werner Wunderlich Syndrome with Hydrocolpos: A Case Report.
JNMA; journal of the Nepal Medical AssociationFetal Autopsy: Insights Into the Spectrum of Dysraphisms With Associated Anomalies.
CureusIdentification and functional characteristics of CHD1L gene variants implicated in human Müllerian duct anomalies.
Biological researchUterus didelphys and cervical cancer: A case report.
Gynecologic oncology reportsPrenatal and postnatal imaging for early detection of sirenomelia: A case study.
Journal of clinical ultrasound : JCUExternal ear malformations and cardiac and renal anomalies: A systematic review and meta-analysis.
PloS oneZinner syndrome: A rare congenital cause of infertility.
Radiology case reportsSuccessful pregnancy in a woman with Herlyn-Werner-Wunderlich syndrome: A case report and literature review.
Case reports in women's healthPractical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyHyperaldosteronism secondary to renal agenesis: An unusual cause for hypertension in pregnancy.
Pregnancy hypertensionPediatric Zinner syndrome variants: Case series with newer insights into pathogenesis in early childhood.
Journal of pediatric urologyA case with an ectopic ejaculatory duct opening into the bladder trigone in Zinner syndrome, congenital unilateral renal agenesis, and an ipsilateral seminal vesicle cyst.
IJU case reports[Genetic analysis of a Chinese pedigree affected with Branchio-oculo-facial syndrome and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsUndiagnosed Uterine Didelphys, Concomitant Right Renal Agenesis, and Left Nephrolithiasis in a Primigravida With Breech Pregnancy: A Case Report.
CureusMayer-Rokitansky-Küster-Hauser Syndrome: A Case Report.
CureusClinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.
Cytogenetic and genome researchIdentification of urological anomalies associated with anorectal malformation in southwestern Uganda: Limitations and opportunities.
Journal of pediatric urologyPrenatal ultrasound diagnosis of complete cryptophthalmos, congenital aphakia, and corneal vascularization in a fetus: A case report and literature review.
European journal of obstetrics, gynecology, and reproductive biologyPatient with Herlyn-Werner-Wunderlich syndrome and endometriosis achieves successful full-term pregnancy (40 weeks and 6 days): a case report.
Journal of medical case reportsMagnetic Resonance Imaging Evaluation of Wolffian Duct Anomalies - OHVIRA and OSVIRA.
Journal of human reproductive sciencesVaginoscopic Resection of an Obstructed Right Hemivagina in Obstructed Hemivagina and Ipsilateral Renal Agenesis Syndrome.
Journal of minimally invasive gynecologyDiagnosing Fanconi Anemia: A Rare Case Report From Rural India.
CureusHerlyn-Werner-Wunderlich Syndrome Complicated with Vesicovaginal Fistula: A Rare Case Report.
Medicina (Kaunas, Lithuania)Perinatal diagnosis of renal agenesis in female fetus: implication for investigation of OHVIRA syndrome in adolescence.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyNow what: navigating care of maternal/fetal dyads with bilateral renal agenesis after RAFT. A physician and parent point of view.
Pediatric nephrology (Berlin, Germany)Zinner Syndrome: The Diagnosis and Management of a Rare Urogenital Malformation.
Case reports in radiologyA case of Herlyn-Werner-Wunderlich syndrome with exacerbation of hematometra after adnexectomy.
Asian journal of endoscopic surgeryBilateral renal agenesis: fetal intervention and outcomes.
Pediatric nephrology (Berlin, Germany)A rare case of OHVIRA (obstructed hemivagina and ipsilateral renal anomaly) syndrome: Case report.
Radiology case reportsIncidental Discovery of Klippel-Feil Syndrome: Beyond the Expected Clinical Triad.
CureusZinner syndrome in pediatric age group: An underdiagnosed entity.
Journal of pediatric urologyMR Imaging of the Fetal Genitourinary Tract.
Magnetic resonance imaging clinics of North AmericaHypogonadotropic hypogonadism with Zinner syndrome: a coincidence or a consequence?
BMJ case reportsZinner syndrome: a radiological journey through a little known condition.
Abdominal radiology (New York)Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
Kidney international reportsLong-Term Outcomes, Including Fetal and Neonatal Prognosis, of Renal Oligohydramnios: A Retrospective Study over 22 Years.
The Journal of pediatricsComparison of Serial Amnioinfusion Strategies for Isolated Early-Onset Fetal Renal Anhydramnios.
Fetal diagnosis and therapyGenetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.
Pediatric researchAnesthetic Management of a Patient with Klippel-Feil Syndrome for Laparoscopic Pelvic Surgery: A Case Report.
Acta medica PhilippinaZinner Syndrome in Young Adult Males: A Case Series and Literature Review.
CureusPrevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.
Journal of community geneticsA case report of congenital ureteral stricture: Obstructed, hydronephrotic solitary kidney with cystic dysplastic changes.
International journal of surgery case reports[Clinical analysis of 80 patients with oblique vaginal septum syndrome].
Zhonghua fu chan ke za zhi[Concomitant extragenital malformations of female reproductive tract anomalies: analysis of 444 cases in Peking Union Medical College Hospital].
Zhonghua fu chan ke za zhiUnilateral renal agenesis with calculi in ipsilateral blind-ending ureter: A case report.
Asian journal of surgeryApplicability and Suitability of the Embryological-Clinical Classification of Female Genital Malformations: A Systematic Review.
Journal of clinical medicineA rare case of obstructed hemivagina with uterus didelphys and ipsilateral renal anomaly syndrome.
SAGE open medical case reportsOHVIRA syndrome: clinical implications of a delayed diagnosis.
BMJ case reportsA case report on rare co-occurrence of invasive ovarian mucinous adenocarcinoma, unilateral renal agenesis, and bicornuate uterus: is it a new triad?
BMC women's healthFilippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.
American journal of medical genetics. Part AHerlyn-Werner-Wunderlinch: An unusual presentation in a patient with Prader-Willi syndrome.
Endocrinologia, diabetes y nutricionEarly-onset severe ovarian endometriosis in adolescents with completely obstructed Müllerian anomalies accompanied by ipsilateral renal agenesis: two case reports.
Journal of surgical case reportsSirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.
Journal of medical case reportsA novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.
BMC medical genomicsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Agenesia renal.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Agenesia renal
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Morphometric analysis of retroperitoneal organs in individuals with unilateral congenital renal agenesis and renal hypoplasia.
- Non-Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis.
- Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.
- False-positive PSMA uptake from urinary reflux into a seminal vesicle cyst in renal agenesis.
- Congenital lumbar and umbilical hernias in lumbo-costo-vertebral syndrome with ipsilateral renal agenesis: A rare case report with literature review.
- Zinner Syndrome: An Incidental Finding.
- Herlyn-Werner-Wunderlich syndrome in an adolescent with epilepsy: Diagnostic and surgical challenges-first case report from Palestine.
- FREM2 as a candidate gene for posterior urethral valves: Evidence from a case-parent cohort.
- Zinner syndrome associated with concealed penis and azoospermia in an adolescent: a case report and literature review.
- Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:411709(Orphanet)
- MONDO:0018470(MONDO)
- GARD:9228(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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
