The main types of NDM | Suspicion of NDM | The reasons for the development of NDM | A molecular genetic study for a child with ADI | Study in the absence of criteria for monogenic diabetes
The main types of NDM
Transient NDM often occurs during the first weeks and sometimes days of a child’s life. Characterized by intrauterine growth retardation, high blood glucose levels and a significant need for insulin therapy.
At the age of 3-18 months, remission (that is, the disappearance of symptoms) of the disease develops, however, at an older age, a relapse of diabetes is possible, therefore, even if insulin therapy is canceled, the child continues to be monitored by an endocrinologist.
With permanent NDM, hypoglycemic therapy is necessary throughout the child’s life. Symptomatic forms of NDM are less common, i.e. combination of NDM with damage to other organs or systems
When can you suspect NDM?
Unlike older children, in whom the first signs of diabetes are thirst and frequent, profuse urination (polyuria), the most persistent symptom of the disease in infants is lack of weight gain or loss of body weight with an adequate feeding regimen.
Less often, parents note the appearance of “starch” spots on the diapers, sticky urine, recurrent dermatitis in the groin area. Sometimes NSD is detected during a dispensary examination, for example, before vaccination, or when taking tests against the background of concomitant diseases.
The reasons for the development of NDM
NSD occurs as a result of a defect (mutations) of one of the genes that are responsible for the normal development of the pancreas, the synthesis and work of insulin. The disease can be inherited or occur spontaneously (i.e., a child with NDM can be born to parents without diabetes), while the most common causes of permanent NDM are mutations in the KCNJ11, ABCC8 and insulin gene (INS) genes.
It should be noted that in 25-30% of patients with defects in the KCNJ11 and ABCC8 genes, in addition to NDM, neurological disorders (epilepsy, delayed psychomotor and speech development) — DEND syndrome — occur. Most cases of TNSD are associated with abnormalities of chromosome 6q24, less common defects in the KCNJ11, ABBC8, and INS genes.
A molecular genetic study for a child with ADI
If a child contracted diabetes in the first 6 months of life, genetic testing is mandatory, since when mutations in the KCNJ11 or ABCC8 genes are detected, in most cases, it is possible to prescribe tableted antidiabetic drugs.
A genetic study for a child in the absence of other criteria for monogenic diabetes
In the age group of 7-12 months, autoimmune type 1 diabetes occurs predominantly; genetically determined forms of diabetes are rarely detected. Therefore, children with the onset of diabetes from 7 to 12 months of age are preliminarily conducted a study of autoimmune markers of type 1 diabetes.
If the antibodies are negative, the question of conducting a molecular genetic study is decided (especially with a genetic predisposition for diabetes). If the antibodies are positive, type 1 diabetes is diagnosed and genetic testing is not performed.