Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation

Uysal B., DÖNMEZ O., Uysal F., Akaci O., AYTAÇ VURUŞKAN B., BERDELİ A.

PEDIATRICS INTERNATIONAL, cilt.57, sa.1, ss.177-179, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 57 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1111/ped.12418
  • Dergi Adı: PEDIATRICS INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.177-179
  • Anahtar Kelimeler: congenital nephrotic syndrome, end-stage renal disease, major cardiac malformation, NPHS1, transplantation, MUTATIONS, NEPHRIN
  • Bursa Uludağ Üniversitesi Adresli: Evet

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.