DOI: 10.4103/ijemcr.ijemcr_29_23 ISSN: 2950-4570
MODY-5: A diagnosis more often missed than made
Trupti Nagendra Prasad, Sanjay Kumar Bhadada, Pinaki Dutta, Soham Mukherjee, Rimesh Pal, Biona Devi Konsam, Vivek Premshankar Tiwari, Mintu Mani BaruahAbstract
Maturity-onset diabetes of the young (MODY) is the most common cause of monogenic diabetes, having 14 subtypes. Amongst MODY, MODY-5 accounts for less than 5% of cases. Along with diabetes, it presents with a number of extra-pancreatic manifestations. We report a case of a 15-year-old boy with diabetes, renal dysfunction, and obstructive uropathy. This presentation along with lean phenotype, absence of ketosis, and features of insulin resistance with a relatively preserved beta cell function suggested a diagnosis of MODY. This was later confirmed by genetic analysis. The patient progressed to develop chronic kidney disease and was managed with insulin therapy with interventions for obstructive uropathy.