ArticlePediatric nephrology (Berlin, Germany)2020
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Article in Pediatric nephrology (Berlin, Germany), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 18 citations in OpenAlex.
- Rare forms of autosomal dominant tubulointerstitial kidney disease in children: a retrospective case series from Oman.Pediatric nephrology (Berlin, Germany) · 2026Article
- Article
- Renal damage-induced hepcidin accumulation contributes to anemia in angiotensinogen-deficient mice.Clinical science (London, England : 1979) · 2025Article
- Angiotensin II promotes erythroid proliferation in a three-stage erythroid culture system.MethodsX · 2024Article
- Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.Disease models & mechanisms · 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
- Sequence variants in the renin-angiotensin system genes are associated with isolated multicystic dysplastic kidney in children.Pediatric research · 2021Article
- A Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis.Journal of Korean medical science · 2020Article
- Late Preterm Infant With Postnatal Diagnosis of Renal Tubular Dysgenesis.Journal of investigative medicine high impact case reportsArticle
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7 authors at 5 institutions in 1 country.
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Abstract
backgroundBi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system (AGT, ACE, REN, AGTR1) are associated with autosomal recessive renal tubular dysgenesis, a severe disease characterized by the absence of differentiated proximal tubules leading to fetal anuria and neonatal end-stage renal disease. CASE-DIAGNOSIS/TREATMENT: We identified bi-allelic loss of function mutations in ACE, the gene encoding angiotensin-converting enzyme, in 3 unrelated cases displaying progressive chronic renal failure, whose DNAs had been sent for suspicion of juvenile hyperuricemic nephropathy, nephronophthisis, and cystic renal disease, respectively. In all cases, patients were affected with anemia whose severity was unexpected regarding the level of renal failure and with important polyuro-polydipsia.
conclusionsBi-allelic loss of function mutation of ACE can have atypical and sometimes late presentation with chronic renal failure, anemia (out of proportion with the level of renal failure), and polyuro-polydipsia. These data illustrate the usefulness of next generation sequencing and "agnostic" approaches to elucidate cases with chronic kidney disease of unknown etiology and to broaden the spectrum of phenotypes of monogenic renal diseases. It also raises the question of genetic modifiers involved in the variation of the phenotypes associated with these mutations.
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