Informes de casos de diabetes

Abstracto

HNF1A Gene Mutation (c.811del, p.Arg271Glyfs) Causing Maturity Onset of Diabetes of the Young 3: A Case Study of an Indian Patient

Neelima Chitturi*, Satish Sunkara, Sandhya Kiran Pemmasani, Anuradha Acharya

Background: Maturity-Onset Diabetes of the Young (MODY), a rare class of diabetes that develops in early adulthood, is thought to have a prevalence of less than 5%. The best practice for the management of the MODY is to identify its type, through genetic testing. This paper presents a case study to identify the genetic etiology of diabetes.

Case history: The presented case was diagnosed with diabetes at the age of 17 with a strong family history of diabetes. The individual was on insulin (12 units) with high random blood sugar levels (200 mg/dL to 300 mg/ dL) and HbA1c (9.2%). Whole exome sequencing has shown the presence of a known likely pathogenic variant in the HNF1A gene (chr12: 121432062, c.811del, p.Arg271Glyfs), known to cause MODY3. Other unaffected family members were screened for the variant using Sanger sequencing, but the results were negative. The association of this variant with the disease is reported for the first time in the Indian population.

Conclusion: Blood sugar levels can be brought under control with the right medical care, such as sulphonylurea therapy, and eventually, painful insulin medication can be stopped. For a precise diagnosis and prognosis of diabetes, it's crucial to identify the genetic cause of the disease. This case demonstrates the critical role of genetic testing in proper treatment and management of diabetes.