Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

@inproceedings{Ik2018CongenitalHA,
  title={Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation},
  author={Emreg{\"u}l Işık and H{\"u}seyin Demirbilek and Jayne A. L. Houghton and Sian Ellard and Sarah E Flanagan and K. M. Iqbal Hussain},
  booktitle={Journal of clinical research in pediatric endocrinology},
  year={2018}
}
BACKGROUND Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50 % of all CHI cases. Hyperinsulinaemic hypoglycaemia (HH) in infancy and diabetes in later life have been reported in subjects with HNF1A, HNF4A and ABCC8 mutations. CASE REPORT Herein, we present a child who was diagnosed with CHI at birth, then developed diabetes mellitus at the age… CONTINUE READING

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