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Dr. Ami Sanghvi: Resolving the case of MODY 3

by · May 31, 2021

Complex clinical cases not only provide a learning opportunity but also bring along immense satisfaction. Dr. Ami Sanghvi created a positive difference in the life of a young diabetic, Mast Rainish Maknojia, whose age was 16.5 years when he first visited her clinic on 15.10.2020. The patient’s chief complaints were polyuria, weight loss and increased appetite (since 10 days). Patient had a family history of diabetes (paternal grandfather). His weight was 52 kgs, height was 154 cms, and BMI was 21.9. On examination the following was observed:

  • Pulse: 74/min
  • BP: 110/70
  • All systems normal
  • Fasting sugar: 314 mg/dl
  • Postprandial blood sugar: 443 mg/dl
  • Urine routine: Sugar +++ Ketones +

The patient was recommended premixed insulin 16-0-10 and was advised on diet, exercise, hydration. He visited for a follow-up after a week on 22.10.20 and the following was observed:

  • Weight: 51 kgs
  • Fasting blood sugar: 302 mg/dl
  • Postprandial blood sugar: 627 mg/dl
  • HbA1c 12.4%
  • Creatinine: 0.7 mg/dl
  • Thyroid-stimulating hormone: 2.09 mIU/L
  • C-peptide fasting: 1.54 ng/mL
  • C-peptide stimulated 4.4 ng/mL
  • GAD antibodies: Negative

Patient was not wiling to get admitted. Also since patient had family history of diabetes and C-peptide and GAD antibodies test results did not favor type 1 diabetes, his blood sample was sent for Genomic testing and it turned out to be MODY type 3 (mutations in HNF 1 alpha). So the Treatment advised was

  • Premixed insulin: 20-0-14
  • Gliclazide XR 30 mg: 1-0-0
  • Metformin 500: 0-1-1

The patient was advised to keep a close watch on his hydration and self monitor blood sugar levels. Patient was in touch for his blood sugar readings. On the next follow-up that was scheduled on 2.11.20

  • Weight: 56 kgs
  • Fasting blood sugar: 163 mg/dl
  • Postprandial blood sugar: 274 mg/dl

At this stage, the premixed insulin dose was adjusted; however, the OHA continued. After regular follow-ups on 20.1.21:

  • Weight: 60 kgs
  • Fasting blood sugar: 133 mg/dl
  • Postprandial blood sugar: 149 mg/dl
  • HbA1c: 7.2%

At this stage, premixed Insulin dose was reduced to 18-0-10 and OHAs continued the way they were. The next follow-up on 20.2.21 was as below:

  • Weight: 62 kgs
  • Fasting blood sugar: 101 mg/dl
  • Postprandialblood sugar: 143 mg/dl
  • HbA1c: 6.8%

The patient was diagnosed as MODY 3, which responds to sulphurea and hence insulin was discontinued once glucotoxicity was resolved.

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