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The Publishing House of the Romanian Academy
ACTA ENDOCRINOLOGICA (BUC)The International Journal of Romanian Society of Endocrinology / Registered in 1938
in ISI Thomson Master Journal List
Acta Endocrinologica (Buc)
Madani HA, Fawzy N, Afif A, Abdelghaffar S, Gohar N
Study of KCNJ11 Gene Mutations in Association with Monogenic Diabetes of Infancy and Response to Sulfonylurea Treatment in a Cohort Study in Egypt
Acta Endo (Buc) 2016, 12 (2): 157-160doi: 10.4183/aeb.2016.157
Introduction. KCNJ11 gene activating mutations play a major role in the development of neonatal diabetes mellitus (NDM). KCNJ 11 gene encodes the Kir 6.2 subunit of ATP- sensitive potassium channel which is a critical regulator of pancreatic beta-cell insulin secretion. Aim. To study KCNJ11 gene mutations in infants with NDM and the effect of sulfonylurea treatment on the glycemic control in patients with KCNJ11 gene mutation. Subjects and methods. Thirty infants with NDM were screened for KCNJ11 gene mutations by DNA sequencing, insulin therapy was replaced by sulfonylurea treatment in patients with mutations. Results. R201C heterozygous mutation was found in one patient who was successfully shifted from insulin therapy to sulfonylurea treatment, while E23k, I337V, and S385C polymorphisms were detected in 14 patients. Conclusion. Screening for KCNJ 11 gene mutations could lead to identification of patients with mutations who can be successfully shifted from insulin therapy to sulfonylurea treatment improving their quality of life.
Keywords: KCNJ11 gene mutations, neonatal diabetes mellitus, sulfonylurea therapy versus insulin therapy.
Correspondence: Hanan Ali Madani MD, Cairo University, Faculty of Medicine, Clinical and Chemical Pathology, Egypt-Cairo-Kasr AlEini street, Cairo, 11571, Egypt, E-mail: firstname.lastname@example.org