Maturity-onset diabetes of the young: Different diabetes in an infant with cystic fibrosis

Hangul M., Erdogan M., HATİPOĞLU N., KÖSE M.

PEDIATRIC PULMONOLOGY, cilt.55, sa.5, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 5
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1002/ppul.24746
  • Dergi Adı: PEDIATRIC PULMONOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: cystic fibrosis, maturity-onset diabetes of the young, novel GCK gene mutation
  • Erciyes Üniversitesi Adresli: Evet

Özet

Cystic fibrosis (CF) is one of the most common autosomal recessive and multisystemic diseases. CF affects many systems. One of these systems is the endocrine and exocrine functions of the pancreas, causing cystic fibrosis-related diabetes, which is extremely complex and has unique pathogenesis. Maturity-onset diabetes of the young (MODY) is a rare type of diabetes with autosomal dominant inheritance and is not expected in patients with CF. In this study, we present MODY due to a novel glucokinase gene mutation, which is an unexpected form of diabetes in patients with CF. This is previously unreported in the literature.