Maturity onset diabetes of the young history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Diagnosis
There are two general types of clinical presentation. Some forms of MODY produce significant hyperglycemia and the typical signs and symptoms of diabetes: increased thirst and urination (polydipsia and polyuria). In contrast, however, many people with MODY have no signs or symptoms and are diagnosed by either accident, when a high glucose is discovered during testing for other reasons, or screening of relatives of a person discovered to have diabetes. Discovery of mild hyperglycemia during a routine glucose tolerance test for pregnancy is particularly characteristic.
MODY cases may make up as many as 5% of presumed type 1 and type 2 diabetes cases in a large clinic population. While the goals of diabetes management are the same no matter what type, there are two primary advantages of confirming a diagnosis of MODY. Firstly, insulin may not be necessary and it may be possible to switch a person from insulin injections to oral agents without loss of glycemic control. Secondly, it may prompt screening of relatives and so help identify other cases in family members.
As it occurs infrequently, many cases of MODY are initially assumed to be more common forms of diabetes: type 1 if the patient is young and not overweight, type 2 if the patient is overweight, or gestational diabetes if the patient is pregnant. Standard diabetes treatments (insulin for type 1 and gestational diabetes, and oral hypoglycemic agents for type 2) are often initiated before the doctor suspects a more unusual form of diabetes. In some forms of MODY, standard treatment is appropriate, though exceptions occur. For example, in MODY2, oral agents are relatively ineffective and insulin is unnecessary, while in MODY1 and MODY3, insulin may be more effective than drugs to increase insulin sensitivity. Sulfonylureas are effective in the KATP channel forms of neonatal-onset diabetes.
The following characteristics suggest the possibility of a diagnosis of MODY in hyperglycemic and diabetic patients:
- Mild to moderate hyperglycemia (typically 130-250 mg/dl, or 7-14 mM) discovered before 30 years of age.
- A first degree relative with a similar degree of diabetes.
- Absence of positive antibodies or other autoimmunity (e.g., thyroiditis) in patient and family.
- Persistence of a low insulin requirement (e.g., less than 0.5 u/kg/day) past the usual "honeymoon" period.
- Absence of obesity (though obese people can get MODY), or other problems associated with type 2 diabetes or metabolic syndrome (e.g. hypertension, hyperlipidemia, polycystic ovary syndrome).
- Cystic kidney disease in patient or close relatives.
- Non-transient neonatal diabetes, or apparent type 1 diabetes with onset before 6 months of age.
The diagnosis of MODY is confirmed by specific gene testing, now available through several commercial laboratories.