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Article

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 2011

Beck Bodo B, Trachtman Howard, Gitman Michael, Miller Ilene, Sayer John A, Pannes Andrea, Baasner Anne, Hildebrandt Friedhelm, Wolf Matthias T F

Abstract excerpt

Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy. Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia,...

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Source

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Identifiers

PMID: 21903317
DOI: 10.1053/j.ajkd.2011.06.029
PMCID: PMC3366501

Genes

REN
UMOD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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