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Article

Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review.

BMC pediatrics - 4 Oct 2024

Zhen Zhen, Dong Ziyan, Gao Lu, Wang Qin, Chen Xi, Na Jia, Yuan Yue

Abstract excerpt

BACKGROUND X-PROLYL AMINOPEPTIDASE 3: (XPNPEP3) mutations are known to cause nephronophthisis-like nephropathy-1 (NPHPL1), a rare autosomal-recessive kidney disease characterized by progressive kidney failure and cystic kidney disease in childhood. The full phenotypic spectrum associated with mutations in XPNPEP3 is not fully elucidated. CASE PRESENTATION: A 13-year-old Chinese female patient with intellectual...

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PMID: 39363162
DOI: 10.1186/s12887-024-05124-z
PMCID: PMC11451151

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