A disgenesia tubular renal é uma doença rara do feto caracterizada por túbulos renais proximais ausentes ou pouco desenvolvidos, oligoidrâmnio persistente, levando à sequência de Potter (dismorfismo facial com orelhas grandes e achatadas e baixas, hipoplasia pulmonar, artrogripose e defeitos de posicionamento dos membros) e defeitos de ossificação do crânio. Pode ser adquirida durante o desenvolvimento fetal devido a medicamentos tomados pela mãe ou a certos distúrbios (síndrome da transfusão feto-fetal, TTTS) ou herdada de forma autossômica recessiva.
Introdução
O que você precisa saber de cara
A disgenesia tubular renal é uma doença rara do feto caracterizada por túbulos renais proximais ausentes ou pouco desenvolvidos, oligoidrâmnio persistente, levando à sequência de Potter (dismorfismo facial com orelhas grandes e achatadas e baixas, hipoplasia pulmonar, artrogripose e defeitos de posicionamento dos membros) e defeitos de ossificação do crânio. Pode ser adquirida durante o desenvolvimento fetal devido a medicamentos tomados pela mãe ou a certos distúrbios (síndrome da transfusão feto-fetal, TTTS) ou herdada de forma autossômica recessiva.
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
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 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
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive, Not applicable.
Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney
SecretedMembrane
Renal tubular dysgenesis
Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).
Dipeptidyl carboxypeptidase that removes dipeptides from the C-terminus of a variety of circulating hormones, such as angiotensin I, bradykinin or enkephalins, thereby playing a key role in the regulation of blood pressure, electrolyte homeostasis or synaptic plasticity (PubMed:15615692, PubMed:20826823, PubMed:2558109, PubMed:4322742, PubMed:7523412, PubMed:7683654). Composed of two similar catalytic domains, each possessing a functional active site, with different selectivity for substrates (P
Cell membraneCytoplasmSecreted
Ischemic stroke
A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors.
Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis Acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone (PubMed:10619573, PubMed:171389
Secreted
Essential hypertension
A condition in which blood pressure is consistently higher than normal with no identifiable cause.
Receptor for angiotensin II, a vasoconstricting peptide, which acts as a key regulator of blood pressure and sodium retention by the kidney (PubMed:15611106, PubMed:1567413, PubMed:25913193, PubMed:26420482, PubMed:30639100, PubMed:32079768, PubMed:8987975). The activated receptor in turn couples to G-alpha proteins G(q) (GNAQ, GNA11, GNA14 or GNA15) and thus activates phospholipase C and increases the cytosolic Ca(2+) concentrations, which in turn triggers cellular responses such as stimulation
Cell membrane
Renal tubular dysgenesis
Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).
Variantes genéticas (ClinVar)
216 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 803 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
7 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 — Disgenesia tubular renal
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Publicações mais relevantes
Long-term kidney function stabilization with fludrocortisone in autosomal recessive renal tubular dysgenesis: a case report.
Renal tubular dysgenesis (RTD) is a rare disorder characterized by impaired development of the proximal tubules and kidney dysfunction due to decreased fetal renal plasma flow and renin-angiotensin system (RAS) inhibition. Fetal anuria causes severe oligohydramnios and Potter sequence, and most patients die within days after birth due to refractory hypotension, anuria, and respiratory distress. While vasopressin and fludrocortisone therapy have been reported, the long-term efficacy remains unclear due to the rarity of survivors. We report a 10-year-old girl with autosomal recessive renal tubular dysgenesis (ARRTD), a genetic form of RTD caused by mutations in RAS-related genes. She initially experienced recurrent dehydration, electrolyte abnormalities, and kidney dysfunction due to polyuria but showed long-term improvement following fludrocortisone therapy.
Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.
Inherited kidney diseases (IKDs) are a significant cause of chronic kidney disease (CKD) and end-stage kidney disease (ESKD), especially in children. While next-generation sequencing (NGS) has enhanced IKD diagnosis, data from consanguineous populations, where autosomal recessive inheritance is more common, remain limited. This study aimed to identify genetic variants associated with IKDs, primarily from consanguineous Egyptian families, using targeted next-generation sequencing (NGS). It further assessed genotype–phenotype correlations and explored clinical implications for early diagnosis, familial screening, and disease management. Twenty-six Egyptian patients clinically suspicion with IKDs were enrolled. Targeted NGS was conducted using a gene panel associated with IKDs. Variants were classified per American College of Medical Genetics and Genomics (ACMG) guidelines. Segregation analysis was performed when possible. In silico tools, including VarSome, I-Mutant 2.0, and GeneMANIA, were used to predict variant pathogenicity, protein impact, and gene–gene interactions. Seventeen distinct variants were detected in 12 genes, including six novel mutations. Alport Syndrome was the most frequent disorder, with COL4A3 and COL4A5 mutations predominating. A novel COL4A3 variant (c.3926C > A) was identified, reinforcing the role of collagen gene mutations. FREM1 variants, including two novel ones, were linked to syndromic IKDs. AGT and ACE variants were associated with renal tubular dysgenesis, while PKD1 and PKHD1 mutations indicated both dominant and recessive polycystic kidney disease. High consanguinity supported autosomal recessive patterns. This study expands the mutational spectrum of IKDs in an underrepresented population and highlights the utility of targeted NGS in guiding early diagnosis, genetic counseling, and personalized management in high-risk, consanguineous populations. The online version contains supplementary material available at 10.1186/s40348-025-00203-2.
Renal tubular dysgenesis due to variants in the gene encoding ACE in a child surviving the neonatal period.
Autosomal recessive renal tubular dysgenesis (RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system, with the most common outcomes being foetal or neonatal death from renal failure, pulmonary hypoplasia and/or refractory arterial hypotension. A small proportion of patients survive past the neonatal period. We present the case of a toddler with RTD due to compound heterozygous variants in the ACE gene that codes for ACE, who has not required renal replacement therapy to date and in whom fludrocortisone has achieved electrolyte and acid/base balance.
Life-Threatening Haemodynamic Instability During General Anaesthesia in a Child With Renal Tubular Dysgenesis: A Case Report.
Autosomal recessive renal tubular dysgenesis (RTD) is attributed to a rare genetic mutation affecting the renin-angiotensin system, leading to reduced production and activity of angiotensin II. Because only a small number of patients survive beyond the neonatal period, information on safe anaesthetic management remains scarce. This report describes the case of a seven-year-old girl with autosomal recessive RTD who developed life-threatening hypotension requiring cardiopulmonary resuscitation immediately after induction of anaesthesia for surgery. When she was rescheduled for surgery a year later, we maintained a stable haemodynamic status by perioperative administration of fluids and careful administration of anaesthetics and vasopressors during general anaesthesia. Anaesthetists should be aware of the potential for life-threatening hypotension during general anaesthesia in children with RTD. General anaesthesia in these children requires detailed preoperative planning with adequate peri-anaesthetic fluid administration, careful titration of anaesthetics, and the use of vasopressors to prevent lethal hypotension.
Rapid detection and prevalence of the AGT deletion/insertion mutation underlying autosomal recessive renal tubular dysgenesis.
A homozygous deletion/insertion (del/ins) mutation (NM_000029.3: c.1365_c.1777delinsTTGCCTTGC) in the AGT gene responsible for autosomal recessive renal tubular dysgenesis (ARRTD) is frequently reported in Taiwan. Rapid and accurate detection of this peculiar mutation is crucial for genetic counseling and knowledge of the allele frequency in the population may help to better characterize the a priori risk for ARRTD. Using a TaqMan probe-based real-time polymerase chain reaction, we designed a mutation detection plate for the c.1365_c.1777delinsTTGCCTTGC mutation of the AGT gene, with Sanger sequencing as the reference standard. The allelic frequency of heterozygous AGT mutation was determined in 5000 healthy subjects. Demographic data and serum AGT, angiotensin I (AgI), and AgII concentrations were collected in 2 affected patients, 20 carriers, and 9 normal subjects. The designed detection plate, thoroughly validated by direct sequencing, showed perfect sensitivity and specificity in genetically-diagnosed patients, carriers, and healthy subjects. The overall allelic frequency of positive AGT heterozygosity was 1 % (50/5000). There was a significantly higher serum AGT concentration in heterozygous AGT carriers than wild-type subjects despite no difference in blood pressure. This del/ins mutation in AGT can be rapidly and accurately identified by this allele-specific mutation plate. Due to its high prevalence in the Taiwanese population, it is likely that ARRTD may be more common in Taiwan than previously thought.
Publicações recentes
Life-Threatening Haemodynamic Instability During General Anaesthesia in a Child With Renal Tubular Dysgenesis: A Case Report.
Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.
Long-term kidney function stabilization with fludrocortisone in autosomal recessive renal tubular dysgenesis: a case report.
Rapid detection and prevalence of the AGT deletion/insertion mutation underlying autosomal recessive renal tubular dysgenesis.
Renal tubular dysgenesis due to variants in the gene encoding ACE in a child surviving the neonatal period.
📚 EuropePMC104 artigos no totalmostrando 54
Life-Threatening Haemodynamic Instability During General Anaesthesia in a Child With Renal Tubular Dysgenesis: A Case Report.
CureusGenetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.
Molecular and cellular pediatricsLong-term kidney function stabilization with fludrocortisone in autosomal recessive renal tubular dysgenesis: a case report.
Pediatric nephrology (Berlin, Germany)Rapid detection and prevalence of the AGT deletion/insertion mutation underlying autosomal recessive renal tubular dysgenesis.
Journal of the Formosan Medical Association = Taiwan yi zhiRenal tubular dysgenesis due to variants in the gene encoding ACE in a child surviving the neonatal period.
BMJ case reportsA Premature Infant With Renal Tubular Dysgenesis Who Survived 61 Days With Anuria.
CureusDiagnostic Challenges of Inherited Renal Tubular Dysgenesis.
American journal of medical genetics. Part AGenome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Pediatric nephrology (Berlin, Germany)Diagnosis and Treatment of Inherited Renal Tubular Dysgenesis Caused by ACE Gene Mutation: A Single-Center Experience.
Fetal diagnosis and therapyRenal Tubular Dysgenesis: Broadening the Discussion of the Etiological Spectrum.
CureusAutosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations.
Clinical dysmorphologyElucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.
PloS onePractical 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 SocietyHypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.
Clinical kidney journalProgressive Kidney Failure by Angiotensinogen Inactivation in the Germline.
Hypertension (Dallas, Tex. : 1979)Oligohydramnios and an empty bladder with normal renal morphology: Renal tubular dysgenesis is an important consideration in the prenatal setting.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsA loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
BMC nephrologyFetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies.
Prenatal diagnosisPrenatal diagnosis of autosomal recessive renal tubular dysgenesis caused by variants in the ACE gene: Two fetuses with anhydramnios.
Prenatal diagnosisRAAS-deficient organoids indicate delayed angiogenesis as a possible cause for autosomal recessive renal tubular dysgenesis.
Nature communicationsMaternal protein deficiency alters primary cilia length in renal tubular and impairs kidney development in fetal rat.
Frontiers in nutritionClinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios.
Annals of medicineAutosomal recessive renal tubular dysgenesis: The need for clinical vigilance in anuric fetuses with normal renal sonography.
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Molecular genetics & genomic medicineTargeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Human mutation[RENAL TUBULAR DYSGENESIS SECONDARY TO MUTATIONS IN GENES ENCODING THE RENIN-ANGIOTENSIN SYSTEM].
HarefuahRapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios.
Frontiers in geneticsQuantifying Proximal Collecting Tubule Deficiency in Angiotensin-Converting Enzyme Inhibitor and Angiotensin II Receptor Blocker Fetopathy.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyEffect of Hydrocortisone on Angiotensinogen (AGT) Mutation-Causing Autosomal Recessive Renal Tubular Dysgenesis.
CellsFunctional tests to guide management in an adult with loss of function of type-1 angiotensin II receptor.
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The Tohoku journal of experimental medicineA Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis.
Journal of Korean medical scienceSecondary renal tubular dysgenesis in a newborn exposed to angiotensin Ⅱ receptor antagonist during gestation.
Clinical and experimental pediatricsTwo novel deleterious variants of Angiotensin-I-converting Enzyme gene identified in a family with recurrent anhydramnios.
Molecular genetics & genomic medicineBi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Pediatric nephrology (Berlin, Germany)The pathogenic AGT c.856+1G>T mutation of a patient with multiple renal cysts and hypertension.
Annals of translational medicineRenal Tubular Dysgenesis in a Case of Fetus Acardius Amorphus.
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The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansPrenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene.
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American journal of medical genetics. Part AAssociações
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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.
- Long-term kidney function stabilization with fludrocortisone in autosomal recessive renal tubular dysgenesis: a case report.
- Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.
- Renal tubular dysgenesis due to variants in the gene encoding ACE in a child surviving the neonatal period.
- Life-Threatening Haemodynamic Instability During General Anaesthesia in a Child With Renal Tubular Dysgenesis: A Case Report.
- Rapid detection and prevalence of the AGT deletion/insertion mutation underlying autosomal recessive renal tubular dysgenesis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3033(Orphanet)
- MONDO:0017609(MONDO)
- GARD:379(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014009(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.
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