ReviewPediatric nephrology (Berlin, Germany)2014
Renal tubular dysgenesis.
Review in Pediatric nephrology (Berlin, Germany), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Current evidence on the use of anti-RAAS agents in congenital or acquired solitary kidney.Renal failure · 2017Pooled it
- Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.Pediatric nephrology (Berlin, Germany) · 2025Article
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- Article
- Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant inClinical case reports · 2024Article
- A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.BMC nephrology · 2024Review
- RAAS-deficient organoids indicate delayed angiogenesis as a possible cause for autosomal recessive renal tubular dysgenesis.Nature communications · 2023Article
- Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios.Annals of medicine · 2023Article
- Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm.Archives of gynecology and obstetrics · 2023Observational
- Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families.International journal of molecular sciences · 2023Article
- Functional tests to guide management in an adult with loss of function of type-1 angiotensin II receptor.Pediatric nephrology (Berlin, Germany) · 2021Article
- Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios.Frontiers in genetics · 2021Article
- Human Pluripotent Stem Cell-Derived Kidney Organoids with Improved Collecting Duct Maturation and Injury Modeling.Cell reports · 2020Article
- Twin gestation and the burden of adult cardio-renal disease.Pediatric nephrology (Berlin, Germany) · 2020Review
- A Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis.Journal of Korean medical science · 2020Article
- Two novel deleterious variants of Angiotensin-I-converting Enzyme gene identified in a family with recurrent anhydramnios.Molecular genetics & genomic medicine · 2020Article
- Bi-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) · 2020Article
- Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in theDiagnostics (Basel, Switzerland) · 2019Article
- Histology Atlas of the Developing Mouse Urinary System With Emphasis on Prenatal Days E10.5-E18.5.Toxicologic pathology · 2019Article
- Successful treatment of severe arterial hypotension and anuria in a preterm infant with renal tubular dysgenesis- a case report.Maternal health, neonatology and perinatology · 2018Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. In most cases, early death occurs from pulmonary hypoplasia, anuria and refractory arterial hypotension. RTD may be acquired during foetal development or inherited as an autosomal recessive disease. Inherited RTD is genetically heterogeneous and linked to mutations in the genes encoding the major components of the renin-angiotensin system (RAS): angiotensinogen, renin, angiotensin-converting enzyme or angiotensin II receptor type 1. Mutations result in either the absence of production or lack of efficacy of angiotensin II. Secondary RTD has been observed in various situations, particularly in the donor twin of severe twin-to-twin transfusion syndrome, in foetuses affected with congenital haemochromatosis or in foetuses exposed to RAS blockers. All cases result in renal hypoperfusion. These examples illustrate the importance of a functional RAS in the maintenance of blood pressure and renal blood flow for humans during foetal life. The diagnosis of RTD in an anuric foetus with normal renal sonography results is important for the management of the foetus or neonate. Depending on the genetic or secondary cause of the disease, such findings can lead to genetic counselling or the prevention of recurrence in subsequent pregnancies.
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