What is Monogenic Diabetes? Many times misdiagnosed!
The most common forms of diabetes, Type 1 and Type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes. But some rare forms of diabetes result from mutations in a single gene and are called monogenic.
This story could be about one of your patients:
Lilly Jaffe, of Chicago, was diagnosed with Type 1 diabetes more than ten years ago, at the tender age of one month. What has happened to Lilly over the past few years is remarkable….
Types of monogenic diabetes
Permanent neonatal diabetes mellitus (PND), transient neonatal diabetes (TND), and maturity-onset diabetes of the young (MODY) are the main forms of monogenic diabetes. These forms of diabetes can include a group of different genes; some respond to treatment other than insulin, while others are mild and need not be treated with drugs at all. MODY is the more common form. PND and TND first occur in newborns and young infants: MODY usually first occurs in children or adolescents but may be mild and not detected until adulthood. In about half the cases TND recurs in the teenage years.
Genetic testing can diagnose most forms of monogenic diabetes. If a diagnosis based on genetic testing is not made people with monogenic diabetes may have a diagnosis of either Type 1 or Type 2 diabetes.
Families where both types of diabetes have been diagnosed should be considered as possibly having a form of monogenic diabetes, as should thin adults with a diagnosis of Type 2 diabetes.
What is neonatal diabetes mellitus (NDM)?
NDM is a monogenic form of diabetes that occurs in the first 6 months of life. It is a rare condition occurring in only one in 100,000 to 500,000 live births. Infants with NDM do not produce enough insulin, leading to an increase in blood glucose. NDM can be mistaken for….
What is maturity-onset diabetes of the young (MODY)?
MODY is a monogenic form of diabetes that usually first occurs during adolescence or early adulthood. However, MODY sometimes remains undiagnosed until later in life. A number of different gene mutations have been shown to cause MODY, all of which limit the ability of….
What to know about genetic testing and counseling?
Testing for monogenic diabetes involves providing a blood sample from which DNA is isolated. The DNA is analyzed for changes in the genes that cause monogenic diabetes. Abnormal results can determine the gene responsible for diabetes in a particular individual or show….
Hope through Research
Researchers are studying the genetic causes of and metabolic processes related to diabetes. Discoveries about monogenic forms of diabetes may contribute to the search for the causes of and treatments for Type 1 and Type 2 diabetes. For information about clinical trials related to diabetes and genetics…
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Points to Remember
- Mutations in single genes can cause rare forms of diabetes.
- Genetic testing can identify many forms of monogenic diabetes.
- A physician evaluates whether genetic testing is appropriate.
- A correct diagnosis aided by genetic testing can lead to optimal treatment.
- Recent research results show that people with certain forms of monogenic diabetes can be treated with oral diabetes medications instead of insulin injections.
Learn more about monogenic diabetes from the National Institutes of Health (NIH), www.monogenicdiabetes.org, and http://www.kovlerdiabetescenter.org/registry.