MODY: Maturity Onset Diabetes in Young

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MODY

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MODY: Maturity Onset Diabetes in Young

  1. 1. Case 4. History: 23 yr, student, presents with weight gain of ~ 8 kg, in past few months. Increase frequency of urine at night. Even though he tried to reduce weight with various exercise regimen, he is unsuccessful. Past History : Nothing significant. Family History: His Grandfather had Diabetes. His Father also had Diabetes. Personal History: He does not consume Tobacco or Alcohol
  2. 2. <ul><li>O/E: </li></ul><ul><li>Weight : 85 kg </li></ul><ul><li>Height : 170 cm </li></ul><ul><li>BMI : 29.4 kg/m2 </li></ul><ul><li>Pulse : 84 / min regular </li></ul><ul><li>BP: 124/88 mm of Hg </li></ul><ul><li>CVS/ RS / AS/ CNS : clinically normal </li></ul><ul><li>Peri Pulse: palpable, bilaterally. </li></ul>
  3. 3. <ul><li>Laboratory Investigations: </li></ul><ul><li>1. OGTT : </li></ul><ul><li>FBG : 136 mg/dL, Ur Sugar: nil </li></ul><ul><li>PP2BG: 245 mg/dL , Ur Sugar : + </li></ul><ul><li>2. Urine R/M : </li></ul><ul><li>Proteins absent, Ketones absent, </li></ul><ul><li>3. S.creatinine: 1.0 mg/dL </li></ul><ul><li>4. Urine Microalbuminuria: 70 µgm of albumin </li></ul><ul><li>5. Lipids: TC : 162, TG: 140, HDL: 43, LDL: 84 </li></ul><ul><li>6.Hba1c : 8.1 % </li></ul>
  4. 4. <ul><li>Q.1 </li></ul><ul><li>What is your Diagnosis? </li></ul><ul><li>1. Type 2 DM with Incipient Nephropathy </li></ul><ul><li>2. Type 2 DM </li></ul><ul><li>3. MODY (Maturity Onset Diabetes in Young) </li></ul><ul><li>4. MODY with Incipient Nephropathy. </li></ul>
  5. 5. <ul><li>Why MODY? </li></ul><ul><li>Young onset, But present as Type 2 DM </li></ul><ul><li>3 Generation (He, Father and Grandfather are affected) </li></ul><ul><li>Laboratory Investigation confirms DM </li></ul><ul><li>What are features of MODY? </li></ul><ul><li>Autosomal dominant inheritance </li></ul><ul><li>Onset in at least 1 family member at < 25 yrs age. </li></ul><ul><li>Absence of autoantibody </li></ul><ul><li>Absence of Ketosis … like Type 2 DM </li></ul><ul><li>Correction of Hyperglycemia (FBG) for at least 2 yrs without Insulin. </li></ul>
  6. 6. <ul><li>How to D/D MODY with Type 1 DM? </li></ul><ul><li>C peptide is normal </li></ul><ul><li>GAD 65 negative (Glutamic Acid Decarboxylase) </li></ul><ul><li>ICAs negative (Islet cell antibody) </li></ul><ul><li>IA2 negative (Insulin Antibody) </li></ul><ul><li>How to D/D MODY with Type 2 DM? </li></ul><ul><li>Almost similar to Type 2 DM except: </li></ul><ul><li>Young age </li></ul><ul><li>Running in Family and </li></ul><ul><li>Molecular genetic to identify defective gene. </li></ul>
  7. 7. <ul><li>How many types of MODY are described genetically? </li></ul>MODY type Defective Mutation in MODY 1 Chromosome 12 HNF-1 ( Hepatocyte Nuclear factor) MODY 2 Chromosome 7p Glucokinase gene MODY 3 Chromosome 20 HNF -4 α MODY 4 Chromosome 13 IPF -1 (Insulin promoter factor) MODY 5 Chromosome 17 HNF -1 α MODY 6 Chromosome 2 Neuro D1
  8. 8. <ul><li>MODY take home message: </li></ul><ul><li>Suspect MODY in any young patient presenting with DM </li></ul><ul><li>MODY is hereditary form of DM due to mutations in an Autosomal dominant gene </li></ul><ul><li>MODY are non obese </li></ul><ul><li>MODY are Not prone to ketosis </li></ul><ul><li>MODY do not have B cell auto immunity </li></ul><ul><li>MODY is D/D with Type 1 DM by normal “C” peptide and absence of Islet cell antibodies. </li></ul>

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