A Rare Case of HNF1B-Associated MODY (MODY 5) Presenting as Recurrent Diabetic Ketoacidosis with Urosepsis in an Adolescent: A Diagnosis More Often Missed Than Made
Volume 4, Issue 1, Pages 10-12
Authors
Affiliation:
1Senior Physician & Diabetologist Co-Chairman–API Chennai. Chairman–Indian Association of Clinical Medicine (Tamil Nadu Chapter), Priya Nursing Home, Chennai.
2Consultant Physician, Panimalar Medical College, Chennai.
3Third-year Medical Student, Panimalar Medical College Hospital and Research Institute.
Corresponding Author
S.S. Lakshmanan
Abstract
Background: Maturity-onset diabetes of the young (MODY) is an uncommon genetic form of diabetes that arises from mutations in the HNF1B gene. Because it begins at a young age and typically requires insulin therapy, MODY is frequently mistaken for type 1 diabetes.
Case Presentation: We describe a 13-year-old Marwari boy with a history of type 1 diabetes, recurrent diabetic ketoacidosis DKA, and recurrent urosepsis post-pyeloplasty. Despite high-dose insulin therapy (>240 units/day), glycemic control was inadequate. Genetic analysis confirmed HNF1B-associated MODY (MODY 5).
Conclusion: In young individuals presenting with both diabetes and kidney abnormalities, MODY 5 should be considered as a possible diagnosis. Early recognition and precise diagnosis are crucial for guiding appropriate therapy and genetic counselling.
Open Access
This is an open access article distributed under the CC BY 4.0 license.
