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Mody. maturity onset diabetes in young
Mody. maturity onset diabetes in young
Mody. maturity onset diabetes in young
Mody. maturity onset diabetes in young
Mody. maturity onset diabetes in young
Mody. maturity onset diabetes in young
Mody. maturity onset diabetes in young
Mody. maturity onset diabetes in young
Mody. maturity onset diabetes in young
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Mody. maturity onset diabetes in young

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  • 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.
    • O/E:
    • Weight : 85 kg
    • Height : 170 cm
    • BMI : 29.4 kg/m2
    • Pulse : 84 / min regular
    • BP: 124/88 mm of Hg
    • CVS/ RS / AS/ CNS : clinically normal
    • Peri Pulse: palpable, bilaterally.
  • 3.
    • Laboratory Investigations:
    • 1. OGTT :
    • FBG : 136 mg/dL, Ur Sugar: nil
    • PP2BG: 245 mg/dL , Ur Sugar : +
    • 2. Urine R/M :
    • Proteins absent, Ketones absent,
    • 3. S.creatinine: 1.0 mg/dL
    • 4. Urine Microalbuminuria: 70 µgm of albumin
    • 5. Lipids: TC : 162, TG: 140, HDL: 43, LDL: 84
    • 6.Hba1c : 8.1 %
  • 4.
    • Q.1
    • What is your Diagnosis?
    • 1. Type 2 DM with Incipient Nephropathy
    • 2. Type 2 DM
    • 3. MODY (Maturity Onset Diabetes in Young)
    • 4. MODY with Incipient Nephropathy.
  • 5.
    • Why MODY?
    • Young onset, But present as Type 2 DM
    • 3 Generation (He, Father and Grandfather are affected)
    • Laboratory Investigation confirms DM
    • What are features of MODY?
    • Autosomal dominant inheritance
    • Onset in at least 1 family member at < 25 yrs age.
    • Absence of autoantibody
    • Absence of Ketosis … like Type 2 DM
    • Correction of Hyperglycemia (FBG) for at least 2 yrs without Insulin.
  • 6.
    • How to D/D MODY with Type 1 DM?
    • C peptide is normal
    • GAD 65 negative (Glutamic Acid Decarboxylase)
    • ICAs negative (Islet cell antibody)
    • IA2 negative (Insulin Antibody)
    • How to D/D MODY with Type 2 DM?
    • Almost similar to Type 2 DM except:
    • Young age
    • Running in Family and
    • Molecular genetic to identify defective gene.
  • 7.
    • How many types of MODY are described genetically?
    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.
    • MODY take home message:
    • Suspect MODY in any young patient presenting with DM
    • MODY is hereditary form of DM due to mutations in an Autosomal dominant gene
    • MODY are non obese
    • MODY are Not prone to ketosis
    • MODY do not have B cell auto immunity
    • MODY is D/D with Type 1 DM by normal “C” peptide and absence of Islet cell antibodies.
  • 9.  

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