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Monogenic diabetes mellitus in cystic fibrosis

Hoong-Wei Gan1,2, Jayesh Mahendra Bhatt3, Louise Denvir1

  • 1Department of Paediatric Endocrinology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK.

Archives of Disease in Childhood
|October 1, 2018
PubMed

Insights

Genetic testing revealed monogenic diabetes in three siblings, two with cystic fibrosis. Sulfonylurea therapy, specifically gliclazide, proved highly effective for all siblings, correcting previous diabetes mellitus diagnoses.

Area of Science:

  • Genetics
  • Endocrinology
  • Pulmonology

Background:

  • Diabetes mellitus (DM) can have various underlying causes, including genetic mutations.
  • Cystic fibrosis (CF) is a genetic disorder that can affect multiple organs, including the pancreas, potentially leading to DM.
  • Monogenic forms of DM, such as those caused by HNF1A mutations, have distinct clinical and therapeutic profiles.

Keywords:
cystic fibrosisdiabetesendocrinologypaediatric practicerespiratory

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