TREATMENT


The treatment of MD depends on the mutated gene that causes the disease. Some types of monogenic diabetes can be treated with oral medication, while others are treated with insulin. However, infrequently, monogenic diabetes does not require any treatment and the best therapy in several types of neonatal diabetes and MODY remains unclear and seems to vary person to person. Importantly, any treatment of MD must be monitored by a knowledgeable physician endocrinologist.

People with monogenic forms of diabetes still need to check their blood sugar levels.  However, they may not need to check as often as a person with type 1 diabetes.

Permanent Neonatal Diabetes

This type of MD is diagnosed before 6 months of age and can be caused by a mutation in any one of several genes, including KCNJ11, INS, ABCC8, GCK, PDX1, EIF2AK3, as well as defects related to chromosome 6q24.

The most common causes of permanent neonatal diabetes (>90%) are caused by mutations in the genes KCNJ11 or ABCC8 and can be treated with oral medication (sulfonylurea pills) rather than insulin.

Unfortunately, not all people with permanent neonatal diabetes due to gene mutations that typically respond to oral medications will be able to successfully switch from insulin to pills. Very importantly, any attempt to change diabetes treatment should only be done by a skilled endocrinologist specialist.

People with other gene mutations, including INS and EIF2AK3, must continue taking insulin replacement therapy, as there are not yet any other treatments known to work for these types of monogenic diabetes.

Maturity Onset Diabetes of the Young (MODY).

This type of MD often develops before the age of 25, although it has been known to develop in adults as late as their 50s.

The genes involved in the majority of patients with MODY are: HNF4A (MODY 1), Glucokinase (MODY 2), HNF1A (MODY3), HNF1B –Renal Cysts and Diabetes- (MODY5), IPF1 and NeuroD1.

MODY due to mutations in the GCK gene generally require no treatment at all, though there are exceptions.

MODY due to mutations in HNF1A or HNF4A also commonly respond well to sulfonylurea pills. Indeed, sulfonylureas are considered the treatment of choice for HNF1A-MODY due to many studies proving their effectiveness.

People with these types of MODY are usually quite sensitive to sulfonylurea drugs and, thus, should be started on low doses even if their diabetes control is poor on insulin or other types of medications. However, not all people with HNF1A-MODY or HNF4A-MODY will be successfully treated with sulfonylurea pills. Again, and very important, any attempt to change diabetes treatment should only be done by a skilled endocrinology specialist.