It is characterised by the development of type 2 diabetes mellitus in patients < 25 years old. It is typically inherited as an autosomal dominant condition.
It presents most commonly in early adulthood and is associated with severe hyperglycemia in some cases and frequent microvascular complications.
Ketosis is not a feature at presentation
Over six different genetic mutations have so far been identified as leading to MODY.
● MODY 3
60% of cases
due to a defect in the HNF-1 alpha gene
● MODY 2
20% of cases
due to a defect in the glucokinase gene
●MODY 1
mutation of HNF4alpha
is much less common and presents later.
it is responsive to sulphonylureas although insulin may be required.
●MODY 5
mutation in HNF1beta
leads to renal cysts and proteinuria as well as diabetes.
● MODY 4
IPF1 mutation
●MODY 6
NeuroD1 mutation
Management
One third of patients require insulin therapy and around one-third may be controlled on oral hypoglycaemic drugs.
Sulphonylureas would be the initial oral therapy of choice.
It presents most commonly in early adulthood and is associated with severe hyperglycemia in some cases and frequent microvascular complications.
Ketosis is not a feature at presentation
Over six different genetic mutations have so far been identified as leading to MODY.
● MODY 3
60% of cases
due to a defect in the HNF-1 alpha gene
● MODY 2
20% of cases
due to a defect in the glucokinase gene
●MODY 1
mutation of HNF4alpha
is much less common and presents later.
it is responsive to sulphonylureas although insulin may be required.
●MODY 5
mutation in HNF1beta
leads to renal cysts and proteinuria as well as diabetes.
● MODY 4
IPF1 mutation
●MODY 6
NeuroD1 mutation
Management
One third of patients require insulin therapy and around one-third may be controlled on oral hypoglycaemic drugs.
Sulphonylureas would be the initial oral therapy of choice.
No comments:
Post a Comment