Monogenic Diabetes, Case Series from Four Arab Countries | ||
| The Egyptian Journal of Hospital Medicine | ||
| Article 84, Volume 84, Issue 1, July 2021, Pages 2165-2167 PDF (494.22 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/ejhm.2021.180958 | ||
| Author | ||
| Khadiga Yehia Eltonbary* | ||
| Pediatric department, Faculty of Medicine, Ain Shams University | ||
| Abstract | ||
| Background: Monogenic diabetes results from the inheritance of a mutation in a single gene. It may be dominantly or recessively inherited or may be de novo. Patients and Methods: Five cases were described in a single center in Jeddah, all were products of first cousin marriage. Three infants aged 2-3 months, including two siblings from Egypt and one from Saudi Arabia were found to have diabetes after hospital admission for gastroenteritis. The fourth case (Yemeni) was admitted with anemia and failure to thrive, picked up during routine clinic visit at the age of four months, hyperglycemia was detected during routine hospital workup. The fifth case is a four years old Jordanian child with accidental finding of hyperglycemia during routine workup during admission for pneumonia, with history of gestational diabetes and an affected grandparent. All patients, but the fifth, was started on insulin after collecting samples from patients and parents for molecular genetic testing. Results: The first three patients were diagnosed with Wolcott Rallison, having mis-sense mutation of EIF2AK3 and all expired by almost the age of 6-7 months. Thiamine responsive megaloblastic anemia was confirmed with homozygous SLC19A2 mutation in the Yemeni patient. Last child showed typical profile of fasting hyperglycemia and with the typical family history, was diagnosed on clinical basis as Glucokinase MODY. Conclusion: Awareness with different forms of monogenic diabetes is essential for early diagnosis, especially in countries with high rates of consanguineous marriage. Genetic diagnosis is also mandatory in management, especially in the first | ||
| Keywords | ||
| Glucokinase; Monogenic diabetes; Neonatal diabetes; Wolcott Rallison | ||
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