Monogenic Diabetes Flashcards
1
Q
MODY accounts for ____% of diabetes in North American/European populations
A
5%
2
Q
List 5 clinical/lab features of patients with monogenic diabetes
A
- Strong family history of early-onset diabetes in one parent/one side of the family (suggestive of autosomal dominant inheritance)
- Onset before age 25
- Evidence of significant but impaired insulin secretion (detectable c-peptide levels >200 nmol/L after 3 years of diabetes)
- Negative diabetes antibodies
- Mild fasting hyperglycemia (5.5-8 mmol/L)
- Associated extra-pancreatic features
- May initially achieve good glycemic control without insulin therapy
- Versus DM2:
- Nonobese
- Lack associated insulin resistance (acanthosis nigricans)
- Not ketosis-prone
- Low risk ethnic group for DM2
3
Q
What are the 3 most common MODYs?
A
- HNF 1-alpha (MODY3): 65%
- GCK (MODY2): 10%
- HNF 4-alpha (MODY1): <10%
4
Q
Clinical features of HNF 4 alpha (MODY1)? Treatment?
A
- Progressive decline in beta cell function
- Eventually develop chronic complications
- Treatment: sulfonylureas, insulin
5
Q
Clinical features of GCK? Treatment?
A
- Mild diabetes, fasting hyperglycemia
- Reset glucose sensor (required higher plasma glucose levels to stimulate insulin secretion)
- Benign clinical course, no complications
- If homozygous (rare): severe neonatal diabetes
- Treatment: diet, oral antihyperglycemics
6
Q
Clinical features of HNF 1 alpha (MODY3)? Treatment?
A
- Progressive decline in beta cell function
- High rates of complications
- Renal glucosuria
- Treatment: sulfonylureas, insulin
7
Q
Clinical features of PDX-1 (MODY 4)? Treatment?
A
- PDX = pancreatic and duodenal homeobox-1 (insulin transcription)
- Mild diabetes, develops at a later age (>35)
8
Q
Clinical features of HNF1 beta (MODY 5)? Treatment?
A
- Moderate to severe diabetes
- Development of complications
- Assocaited with congenital defects in kidney and urogenital tract (also cholestatic jaundice, hyperuricemia, nephropathy and hypomagnesemia)
- Treatment: insulin
9
Q
A
