ArticlePediatric nephrology (Berlin, Germany)2010
Inherited renal tubular dysgenesis may not be universally fatal.
Article in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Long-term kidney function stabilization with fludrocortisone in autosomal recessive renal tubular dysgenesis: a case report.Pediatric nephrology (Berlin, Germany) · 2026Article
- Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.Clinical kidney journal · 2024Article
- RAAS-deficient organoids indicate delayed angiogenesis as a possible cause for autosomal recessive renal tubular dysgenesis.Nature communications · 2023Article
- Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.Molecular genetics & genomic medicine · 2022Review
- Functional tests to guide management in an adult with loss of function of type-1 angiotensin II receptor.Pediatric nephrology (Berlin, Germany) · 2021Article
- Effect of Hydrocortisone on Angiotensinogen (Cells · 2021Article
- Genetic renal disease classification by hormonal axes.Pediatric nephrology (Berlin, Germany) · 2020Review
- Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen.Kidney international reports · 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
- Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts.Pediatric nephrology (Berlin, Germany) · 2015Article
- Renal tubular dysgenesis.Pediatric nephrology (Berlin, Germany) · 2014Review
- The molecular basis of blood pressure variation.Pediatric nephrology (Berlin, Germany) · 2013Review
- Survival over 2 years of autosomal-recessive renal tubular dysgenesis.Clinical kidney journal · 2012Article
- Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report.Autopsy & case reportsArticle
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited renal tubular dysgenesis (RTD) is caused by mutations in the genes encoding components of the renin-angiotensin cascade: angiotensinogen, renin, angiotensin-converting enzyme (ACE), and angiotensin ΙΙ receptor type 1. It is characterized by oligohydramnios, prematurity, hypotension, hypocalvaria, and neonatal renal failure. The histological hallmark is the absence or poor development of renal proximal tubules. Except for a few cases, the prognosis has been thought to be universally poor, with patients dying either in utero or shortly after birth. We report a 3-year-old infant diagnosed clinically with RTD. The infant survived the neonatal period after 2 weeks of anuria subsequently subsiding. Hypotension and hyperkalemia normalized eventually with administration of fludrocortisone. A revision of renal tissue obtained from a sibling that died shortly after birth revealed normal glomeruli and distal tubules but no identifiable proximal tubules. A novel mutation in the ACE gene was found in the surviving child, who remains with stage 4 chronic kidney disease and normal neurodevelopment. As the number of surviving cases of RTD increases, it should be emphasized to the parents and the neonatal care team that it may not be universally fatal as previously reported. A trial of fludrocortisone may correct hyperkalemia and hypotension.
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