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Diabetes - Monogenic Diabetes
Types of Monogenic Diabetes
Types of Monogenic Diabetes
This type of diabetes is diagnosed within the first six months of life which and may last for a short time or be permanent. It is characterised by low birth weight, undetectable autoantibodies (proteins made by the immune system which attacks the bodies own tissue) and marked hyperglycaemia (high levels of glucose in the blood) at diagnosis.
50-60% of those with permanent neonatal diabetes have been identified with changes in one of the potassium channel genes (Kir6.2 or SUR1) which affect insulin production. 90% of these patients have been able to stop insulin and transfer to high doses of sulphonylurea tablets with improved glycaemic control. 20% of patients with changes in Kir6.2 or SUR1 also have neurological features e.g. delayed development (see Global Developmental Delay) and epilepsy.
Familial Diabetes is passed down from an affected member in one generation to the next. The change in the gene may be inherited from an affected parent, therefore diabetes is present in two or more generations. Familial diabetes is diagnosed before 25 years of age in at least one family member. Over 3 years after diagnosis there is evidence of non insulin dependence eg measurable c-peptide.
HNF1A:
HNF1A accounts for 60% of UK MODY. Additional features include a low level at which the kidneys allow glucose to be removed from the body via the urine (renal threshold) and sulphonylurea sensitivity. Annual screening for complications is advisable. HNF1A diabetes is progressive with diet treatment frequently being replaced by tablets or insulin. However patients with HNF1A diabetes are known to be particularly sensitive to tablets called sulphonylureas which help the body produce more insulin and this is considered the most appropriate form of treatment for this group.
HNF4A:
HNF4A is rarer than HNF1A but has similar features although age of diagnosis of diabetes may be later and not include a low renal threshold. Patients tend to have high birth weight (above 4kg/9lb) and may have low blood glucose shortly after birth
GCK:
GCK accounts for 22% of UK MODY. Characterised by mild, stable raised blood glucose throughout life (fasting blood glucose 5.5-8.5mmol/l, HbA1c 5.5-7%). Often detected on routine screening. No treatment is required and complications are rare.
HNF1B:
In HNF1B type diabetes renal cysts (or other renal abnormalities) are often present and may be detected during antenatal ultrasound. Uterine abnormalities and gout can also occur. Diabetes may present later. Usually requiring insulin treatment.
Background
| How is it diagnosed? 
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