Published January 1, 2014
| Version v1
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Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive K-ATP channel mutations
Creators
- 1. Children State Hosp, Dept Paediat Endocrinol, Diyarbakir, Turkey
- 2. Inonu Univ, Dept Paediat Endocrinol, Malatya, Turkey
- 3. Yuzuncu Yil Univ, Dept Paediat Endocrinol, Van, Turkey
- 4. Ankara Childrens Hematol & Oncol Training Hosp, Dept Paediat Endocrinol, Ankara, Turkey
- 5. Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England
- 6. Dicle Univ, Dept Med Biol & Genet, Diyarbakir, Turkey
Description
Objective: Congenital hyperinsulinism (CHI) is the commonest cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous. The aim of this study was to describe the clinical characteristics, analyse the genotype phenotype correlations and describe the treatment outcome of Turkish CHI patients.
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