HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease

GÖNÇ E. N., Ozturk B. B., Haldorsen I. S., Molnes J., Immervoll H., Raeder H., ...Daha Fazla

PEDIATRIC DIABETES, cilt.13, sa.2, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 2
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1111/j.1399-5448.2011.00773.x
  • Dergi Adı: PEDIATRIC DIABETES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Hacettepe Üniversitesi Adresli: Evet

Özet

A small- for- gestational age female infant presented with bilateral hypoplastic kidneys at 3 months of age. She developed chronic renal insufficiency. Insulin- requiring, non- autoimmune diabetes was documented at 6 years of age. She had mild steatosis and iron deposition in the liver, and mal- development of pancreas. Genetic studies revealed a heterozygous mutation ( S148L) of the HNF1B gene, compatible with an HNF1B- MODY phenotype ( MODY5). This is the first case of HNF1B- MODY reported from Turkey and represents a particularly severe phenotype of the disease.