Utilizing the KCNJ11 Gene Mutations in Spotting Egyptian Patients With Permanent Neonatal Diabetes Who Can Benefit From Treatment Shift

• Published in: Laboratory medicine 2017-08, Vol.48 (3), p.225-229
• Main Authors: Ahmed, Dina M, Abdel Dayem, Soha M, Abdel Kader, Mona, Khalifa, Rania H, El-Lebedy, Dalia H, Kamel, Solaf A, Shawky, Shereen M
• Format: Article
• Language: English
• Subjects: Adolescent; Child; Child, Preschool; Cross-Sectional Studies; Developing countries; Diabetes; Diabetes Mellitus - diagnosis; Diabetes Mellitus - drug therapy; Diabetes Mellitus - genetics; Diabetes Mellitus, Type 1; Diagnostic Errors; DNA Mutational Analysis; Egypt; Female; Humans; Infant; LDCs; Male; Mutation; Newborn babies; Patients; Potassium Channels, Inwardly Rectifying - genetics; Prospective Studies; Sulfonylurea Compounds - therapeutic use
• ISSN: 0007-5027; 1943-7730
• DOI: 10.1093/labmed/lmw067

Abstract Background Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes mellitus. Until now, patients in developing countries who had this condition had been misdiagnosed as having type 1 diabetes mellitus and accordingly directed to erroneous, ineffective, and costly therapeutic regimens. Objective To detect Egyptian patients who harbor pathological variant in the KCNJ11 gene, so that their treatment regimen can be modified as needed to increase its effectiveness. Methods We sequenced KCNJ11 in 17 ethnic Egyptian probands diagnosed with diabetes mellitus before age 2 years. Results A preliminary case individual harboring a KCNJ11 pathological variant (p.R201H) was identified. The patient was successfully shifted from insulin therapy to sulfonylurea. Four previously identified benign variants, namely, E23K, I337V, L270V, and A190A, were detected in this patient. Conclusion Implementing the findings of this molecular analysis could have a major clinical and nationwide economic impact on world health, especially in developing countries.