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

• Main Authors: Zhen Zhen (Author), Ziyan Dong (Author), Lu Gao (Author), Qin Wang (Author), Xi Chen (Author), Jia Na (Author), Yue Yuan (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 wit...