Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation
Küçük Resim Yok
Tarih
2015
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Blackwell Publishing
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614-621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years. © 2015 Japan Pediatric Society.
Açıklama
Anahtar Kelimeler
congenital nephrotic syndrome, end-stage renal disease, major cardiac malformation, NPHS1, transplantation
Kaynak
Pediatrics International
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
57
Sayı
1
