Poster Presentation ESA-SRB-APEG-NZSE 2022

A case series of monogenic diabetes from Northern India showing novel variant mutations (#342)

Arunkumar R Pande 1 , Santosh Chaubey 2 , Ashish Jha 3 , Dinesh Kumar 4
  1. Endocrinology, Diabetes and metabolism, Lucknow Endocrine Diabetes And Thyroid Clinic, Lucknow, Uttar Pradesh, India
  2. Endocrinology, Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
  3. Cardiology, Dr Ram Manohar Lohia institute of medical sciences, Lucknow, Uttar Pradesh, India
  4. Medicine, Harsha Clinic and Diabetes Care Centre, Lucknow, Uttar Pradesh, India

Introduction:

Monogenic Diabetes (MD) is a topic of increasing interest, with new gene defects being discovered as an etiology of MD on a frequent basis.

Case Series:

We present 9 cases of MD with novel mutations involving 9 gene mutations: HNF4A, HNF1A, HNF1B(2), PAX4, BLK, ABCC8, CEL gene and KCNJ11. In this abstract we would like to highlight a few clinical features that we believe will aid in patient care. In our practice we have diagnosed people with MD even in their late 40s and 50s. In the areas where the penetration of genetic testing is less we can diagnose patient in later age contrary to the common mindset which we see in OPD setting. 

We were able to successfully discontinue insulin use in a patient who had been on insulin for over 5 years, was in his late 50s, and has the HNF4A mutation. Even after 5 years of diagnosis, one of our HNF1B patients was responding well to sulphonylurea. Also, even after being categorised as a type 1 diabetic for over two decades, a person with negative Type 1 antibodies and no history of ketoacidosis assisted us in diagnosis of MD with PAX4 mutation. A person with a CEL gene mutation developed prominent eye symptoms due to retinal involvement early in the disease's progression.

Conclusion:

  • We report 10 mutations in 9 people with MD of novel variants of genetic mutation.
  • Also our case series highlights that where there is lesser penetration of genetic testing we might get people with MD in their fourth or fifth decade of age. 
  •  A detailed history of onset of diabetes, family history and antibodies status will help us clinch the diagnosis
  • With growing clinical experience newer aspects of management of MD are being discovered.