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De novo SEC61A1 mutation in congenital anemia and early-onset kidney disease: Case report and review of the literature.

Gene - 5 Jun 2026

Zhong Linqing, Ding Juan, Ma Mingsheng, Wang Changyan, Xiao Juan, Wei Min, Jian Shan

Abstract excerpt

BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic disorder characterized by tubular damage and interstitial fibrosis, with inescapable progression to end-stage renal disease. SEC61A1-related ADTKD has long been neglected and underrecognized because of its rarity, insidious onset and variable clinical manifestations. RESULTS: A 13-year-old boy was referred to the pediatric...

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Identifiers

PMID: 41850665
DOI: 10.1016/j.gene.2026.150106

Genes

SEC61A1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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