MODY

Question 1

What is the definition of diabetes?

Answer 1

Any of various abnormal conditions characterized by the secretion and excretion of excessive amounts of urine

Question 2

What does diabetes mellitus literally mean?

Answer 2

“sweet honey diabetes”

caused by excessive blood sugar

Question 3

What are the causes and consequences of diabetes mellitus?

Answer 3

defects in insulin secretion and/or response to insulin

damage to organs, especially eyes, kidneys, nerves, heart, and blood vessels

Question 4

What are the characteristics of type 1 diabetes?

Answer 4

Formerly known as juvenile diabetes and insulin dependent diabetes mellitus
Usually autoimmune
Results in the destruction of pancreatic beta cells
Usually young/acute onset

Question 5

What are the characteristics of Type 2 Diabetes?

Answer 5

Formerly known as maturity onset diabetes and then non-insulin dependent diabetes mellitus
Heterogenous
Combination of poor insulin sensitivity/secretion
Age- and obesity-related
“Diagnosis of exclusion”

Question 6

What are some of the characteristics of MODY?

Answer 6

Preferred name now transcription factor/glucokinase diabetes
Typically early onset hyperglycemia
AD inheritance
Impaired but not absent insulin secretion

Question 7

What genes and treatment are associated with MODY1 and MODY3? Onset?

Answer 7

HNF-4alpha and HNF-1alpha, respectively
Treatable with low dose sulfonylureas
Onset tends to be around puberty

Question 8

What is the gene and treatment associated with MODY2?

Answer 8

Glucokinase

No treatment needed EXCEPT for an unaffected fetus of an affected mother

Question 9

What gene and treatment are associated with MODY13?

Answer 9

KCNJ11 related to the ATP-sensitive potassium channel

Treatable with high dose sulfonylureas

Question 10

What is a pregnancy concern for people with HNF4alpha mutations causing diabetes?

Answer 10

Macrosomia, especially if the fetus is also affected