MODY: Is diabetes in children always type 1?

MODY: Is diabetes in children always type 1?

Metabolic Diseases

When diabetes is diagnosed in adults or children, the question that follows is usually whether it is type 1 or 2? Meanwhile, genetic research has revealed two more types of diabetes: Maturity Onset Diabetes of the Young (MODY) and Latent Autoimmune Diabetes in Adults (LADA). If you know someone with diabetes or if you yourself have been previously diagnosed, it’s a good idea to check if you or they have the right diagnosis.

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Monogenic diabetes

In recent years, there has been an increase in the incidence of diabetes in almost every age group. So far, it has been assumed that the finding of diabetes in a child or young adult entitles you to diagnose type 1 diabetes, while the presence of hyperglycaemia in an adult allows for the diagnosis type 2 diabetes.

However, the increasing availability of genetic tests allows for a quick and accurate diagnosis of monogenic diabetes. Proper diagnosis determines better forms of treatment and can protect the patient from unnecessary insulin therapy.

Monogenic diabetes occurs in the following forms, the majority of which are associated with the dysfunction of insulin secretion. The most common of these are:

When can we suspect monogenic diabetes?

Doubts about the subordination of the diagnosis to the right type should occur when diabetes is characterized by a mild clinical course and occurs in several people in the family (both type 1 and type 2).

The basis for verification of a pre-established diagnosis is:

In order to diagnose diabetes of this type, specialized genetic tests are used, which are only currently performed in people who have been confirmed by the doctor managing the indications. Diabetes centers involved in genetic research for monogenic diabetes in Poland are:

MODY Diabetes (Maturity Onset Diabetes of the Young):

MODY diabetes can be diagnosed by:

  1. Determination of the level of fasting blood sugar.
  2. OGTT, an oral glucose load test.
  3. HbA1c glycated hemoglobin test.
  4. Test for the presence of antibodies against pancreatic beta cells.
  5. Genetic research.

Treatment of MODY

MODY can sometimes be controlled more effectively than other types of diabetes. Treatment of MODY 2 is only about the use of an appropriate diet. In the MODY 3 type, due to the high sensitivity to sulfonylurea derivatives, it is possible to successfully use these drugs for many years. In other cases, sufficient treatment may be the use of oral medications which lower blood sugar levels. In some types however, insulin therapy is needed.

Mitochondrial diabetes

Neonatal diabetes

Neonatal diabetes is defined as having diabetes before the age of nine months. This always requires differential diagnosis with type 1 diabetes. It can occur as:

  1. Transient neonatal diabetes mellitus (TNDM), which disappears in a few to several weeks after diagnosis.
  2. Permanent neonatal diabetes mellitus (PNDM), which is permanent. Newborns with PNDM are also characterized by:

    • low birth weight,
    • often significant hyperglycemia,
    • sometimes ketoacidosis may co-exist,
    • in contrast to typical type 1 diabetes, there is no presence of autoantibodies against β-cell antigens,
    • usually the diagnosis is based on the search for mutations in the KCNJ11 gene encoding the Kir6.2 protein - this is the most common mutation found in this type of disease. If confirmed, effective and safe therapy with sulfonylurea is possible regardless of the child's age.
    • other less frequently detected mutations concern the insulin gene and the glucokinase gene (confirmation of these mutations requires the implementation of insulin therapy) and the ABCC8 gene encoding the SUR1 protein (in this mutation there is a possibility to take a sulphonylurea therapy, an alternative to insulin therapy).
Bibliography:
  1. Interna Szczeklika 2018 Manual of Internal Diseases, Authors: Piotr Gajewski, Andrzej Szczeklik Publisher: Medycyna Praktyczna
  2. Collective work, Carbohydrate metabolism disorders [in:] Andrzej Wojtczak (ed.), Internal diseases, ed. II amended, Warsaw: Medical Publishing House PZWL, 1995
  3. http://www.mp.pl
  4. https://www.mp.pl/pacjent/
  5. https://diabetologia.mp.pl/wytyczne/104735,mody-rzadki-rodzaj-cukrzycy-jak-ja-rozpoznac-i-leczyc-cz-1
  6. http://test-diabdiscom.diabdis.com/blog/cukrzyca-monogenowa/
  7. https://www.mp.pl/cukrzyca/cukrzyca/MODY/65892,cukrzyca-mody
  8. http://endokrynologiapediatryczna.pl/contents/files/a_1512.pdf
  9. https://journals.viamedica.pl/clinical_diabetology/article/viewFile/8583/7314
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