Monogenic diabetes is rare and results from you or several mutations in a single gene. This single gene mutation affects the body's ability to produce insulin which is a protein produced in the pancreas to help the body use glucose for energy. Monogenic diabetes is inherited but in some cases it is developed spontaneously. Monogenic diabetes is found in new born babies, children, youngsters and adults. Genetic testing is usually conducted to diagnose monogenic diabetes. Most monogenic diabetes ca be treated through oral diabetes medication or insulin injection. A proper diagnosis and control should lead to better glucose control and general health improvement. There are two main types of monogenic diabetes. the maturity onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM).
Symptoms of MODY:
- Mainly occurs in adolecents and young adults.
- Mild or moderate hyperglycemia that occurs before 30 years of age
- Absence of positive antibodies or other autoimmunity like thyroiditis
- Persistence of low insulin requirement
- Cystic kidney disease
- Absence of obesity and other complications associated with type 2 diabetes.
Symptoms of NDM:
- It mainly occurs in infants during the first 6 months of life.
- Frequent urination
- Frequent thirst and dehydration
- Increased amounts of sugar in urine and blood
- Most fetuses with neonatal diabetes mellitus do not develop well while in the womb and are small as compared to other babies during birth.
Other symptoms of monogenic diabetes are:
- Unexpected weight loss and weight gain
- Slow healing of wounds
- High blood pressure
- High blood cholesterol
- Loss of appetite
Diagnosis and treatment
The best monogenic diagnosis is done through genetic testing that detects the gene mutation and diagnosis the different types of monogenic diabetes. In some cases oral glucose tolerance test is done to diagnose the condition.
Monogenic treatment focuses on treating gene mutation. Gene mutation is treated with proper diet and meal plan. Pharmacological treatment is also crucial since monogenic diabetes is associated with constant progression of deteriorating control of blood glucose level that restores it to the normal level.
Insulin dependant monogenic diabetes is treated through insulin injections at particular prescribed intervals to reduce the blood glucose level.
At the infant age and childhood, monogenic diabetes is not required since the infants and children provide little response to oral medication and insulin. Early diagnosis and treatment of monogenic diabetes results in reduced glucose levels and health improvement.
Tips and comments
- A correct and early diagnosis of monogenic diabetes through genetic testing can lead to optimal treatment of the disorder.
- Most people suffering from MODY type of monogenic diabetes have a family history of multiple successive generations meaning that the disorder was present in their grandparents and parents.
- Infants with NDM monogenic disorder do not gain weight but grow like other infants of the same age and gender.
- Genetic testing identifies many forms of maonogenic diabetes.
- Some forms of monogenic diabetes are caused by dormant gene mutation meaning that the disorder can be passed to the children if you parent is affected.
- If the mutation is recessive, the monogenic disease gene must be present in both parents for the child to inherit.
- Prenatal testing can diagnose the monogenic diabetes condition in unborn babies.
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