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Biallelic NPHP3 Variants Causing Late Onset Chronic Kidney Insufficiency in Nephronophthisis: A Case Report.

Nephrology (Carlton, Vic.) - 1 May 2026

Wu Yu, Li Mengshi, Jiang Lei, Zhou Xujie, Zhou Yilun

Abstract excerpt

Emerging evidence suggests that the overall prevalence of nephronophthisis (NPHP) in adult-onset end-stage kidney disease (ESKD) is very likely underestimated. Thus, a comprehensive understanding of the genetic basis and clinicopathologic features of adult-onset NPHP is essential. In this case, we report a 38-year-old woman who exhibited no growth disorders or urinary abnormalities in prior physical examinations....

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Source

Identifiers

PMID: 42170844
DOI: 10.1111/nep.70226

Genes

NPHP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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