الفهرس 
Screening for mutation in exon 28 of ABCC8 gene in Egyptian patients with congenital hyperinsulinism (CHI)
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Abstract
Hyperinsulinemic hypoglycemia (HH) is the most frequent cause of persistent hypoglycemia in neonates and infants. The most severe forms of HH are inherited and they are referred to as Congenital Hyperinsulinism (CHI). CHI is a clinically and genetically heterogeneous group of disorders presenting with recurrent episodes of hypoglycemia due to inappropriate insulin secretion with a high risk of development of seizure and neurological damage. The estimated incidence of CHI is 1/50,000 live births and up to 1/2500 in areas with high rates of consanguinity.
Patients and Methods: The present study is a prospective Descriptive cross-sectional study, which was conducted in the clinic at Diabetes, Endocrine and Metabolism Pediatric Unit Specialized Pediatric Hospital (Abo ElReesh), Cairo University on 13 pediatric patients (8 males and 5 females) aged day 1 to 18 years diagnosed with congenital hyperinsulinism underwent screening for mutation in exon 28 of ABCC8 gene. We retrospectively analyzed the clinical, biochemical, genotypical, phenotypical characteristics and outcomes in children with CHI.
Results: Genetic analysis of exon 28 of ABCC8 gene was done using DNA sequencing method and it was found that 7.7% of cases (only one case) show a positive mutation. We found an intronic homozygous Variant on intron 28 (rs1954399854), where there is G to A nucleotide substitution at nucleotide position 77550.
Conclusion: Present results highlight that the importance of investigations in newborns with persistent hypoglycemia and the need of early diagnosis and immediate management as this are the corner stones for preventing brain injury in patients with CHI. Also the importance of molecular studies for patients with CHI as it may provide important information regarding the histology of the disease, and will provide information regarding the recurrence risk for future generations. Further work is required to identify patients who may benefit from a genetic diagnosis, to correlate the type of mutation and specific management and prediction of remission