Screening, Evaluation and Management of Monogenic Form of Diabetes: A Hospital Based Experience

ABSTRACT

Maternally inherited diabetes with deafness is rare diabetes caused by a mitochondrial DNA defect. 85% of cases are associated with m.3243A N G mutation. The phenotypic heterogeneity of MIDD may be the consequence of different levels of mutated mtDNA among mitochondria in a given tissue. It is important to diagnose this form of diabetes because of the unique management issues and associated comorbidities. A very strong family history of diabetes, deafness and presence of retinal dystrophy should prompt an investigation for MIDD. Microvascular complications out of keeping with duration of diabetes are another clue to the diagnosis. Retinal and renal manifestations of mitochondrial disease may be confused for diabetic complications. Glutamic acid decarboxylase (GAD) autoantibody negativity in a nonobese diabetic is another clue. Cardiac conduction defects and GDM may also raise suspicion as to the diagnosis. Recognizing this etiology of DM should promote family screening, genetic counseling, screening of associated comorbidities, avoidance of metformin, and cautious use of statins. Methods: We screened a total of 125 patients with diabetes and after careful history and examination, family history and screening, focused examination by ENT and an ophtho specialist and imaging of brain along with fundus photography, we found out a total of 7 patients with monogenic diabetes. Results: Out of 125 patients screened ,there were 5 females and 2 males.5 out of 7 patients were having maternal history and were diagnosed after 4 to 12 years of diabetes duaration.5 out of 7 patients had neurological involvement and 4 out of 7 patients had hearing impairment.5 out of 7 patients had retinal findings on fundus photography. Conclusion: Recognizing this etiology of DM should promote family screening, genetic counseling, screening of associated comorbidities, avoidance of metformin, and cautious use of statins.