Congenital nephrotic syndrome with a novel NPHS 1 mutation

• Published in: Pediatrics international Vol. 58; no. 11; pp. 1211 - 1215
• Main Authors: Yoshizawa, Chikage, Kobayashi, Yasuko, Ikeuchi, Yuka, Tashiro, Masahiko, Kakegawa, Satoko, Watanabe, Toshio, Goto, Yoshimitsu, Nakanishi, Koichi, Yoshikawa, Norishige, Arakawa, Hirokazu
• Format: Journal Article
• Language: English
• Published: 01.11.2016
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1111/ped.13118

Abstract Congenital nephrotic syndrome of the Finnish type ( CNF ) is a rare autosomal recessive disorder. The incidence of CNF is relatively high in Finland but considerably lower in other countries. We encountered a male newborn with CNF , associated with compound heterozygous mutations in nephrosis 1, congenital, Finnish type ( NPHS 1 ). The patient was admitted to hospital as a preterm infant. Physical and laboratory findings fulfilled the diagnostic criteria of nephrotic syndrome, and were compatible with a diagnosis of CNF , but there was no family history of the disease. On genetic analysis of NPHS 1 a paternally derived heterozygous frame‐shift mutation caused by an 8 bp deletion, resulting in a stop codon in exon 16 (c.2156‐2163 del TGCACTGC causing p.L719DfsX4), and a novel, maternally derived nonsense mutation in exon 15 (c.1978G>T causing p.E660X) were identified. Early genetic diagnosis of CNF is important for proper clinical management and appropriate genetic counseling.