MODY-diabetes: causes, diagnosis, treatment tactics, possible complications

To Which place is MODY-diabetes in the general morbidity of diabetes?

– As a rule, diabetes of the first type is diagnosed in children and adolescents, which then requires lifelong insulin injections. Diabetes of the second type, mainly, people with overweight after the age of 40 get sick.

In fairness, I note that the second type of diabetes is now getting younger, the lower age limit goes down to thirty years, there are cases of children with this form of diabetes. The youngest patient with type 2 diabetes in the United States is a girl under ten years old.

MODY diabetes is a rather rare inherited type of diabetes. The incidence of MODY-diabetes is about 10% of all cases of diabetes in children and adolescents.   It is detected in several family members of the first and second degrees of kinship and includes 13 subtypes, the most common of which are the second and third.

Proper management of patients with MODY-diabetes is based on diagnosis. This is an expensive procedure, especially if the doctor fails to guess which particular subtype is most likely in this case. Then you have to check all 13 possible gene breakdowns.

How is the diagnosis?

– Analysis is done for a long time. First, DNA is extracted from the blood cell, then the DNA is divided into sections, all 13 genes that carry potential damage are isolated, each of them consists of many fragments, then the fragments are examined with the help of equipment and manually. If the result of hardware and manual research coincides – only then doctors declare that there is a breakdown in this gene.   The study of one gene lasts about a month.

Why is it important to diagnose MODY diabetes? Are there any fundamental differences in treatment?

– If a child develops diabetes, doctors usually diagnose type 1 diabetes and transfer it to insulin therapy.   In fact, some subtypes of MODY-diabetes begin as diabetes mellitus type I, with a high blood sugar level.

But in the future for MODY-diabetes more favorable, these types of diseases are sensitive to hypoglycemic preformed drugs.   Compare: the patient is forced to take five or six insulin injections per day, and it may be enough for him to take one or two tablets, and his condition returns to normal.   These drugs, like insulin in case of diabetes of the first type, will have to be taken throughout life. The exception is one of the subtypes of MODY-diabetes – the second. To compensate for the condition of the patient with this subtype of diabetes, in most cases it is enough to follow a diet and not forget about exercise.

So, a child who has been diagnosed with type 1 diabetes should always be checked for MODY-diabetes?

– Not always. But if the child begins diabetes is not accompanied by a sharp loss of body weight, sugar level is about 7 on an empty stomach and up to 10 after a meal, antibodies to pancreatic cells are not detected, and a sufficient level of C-peptide is detected – you need to go to us. We examine the child in order to find out which of the subtypes of MODY-diabetes is most likely not to do all 13 tests.

Are the MODY-diabetes subtypes markedly different from each other, or can only the doctor see the difference?

– Only a doctor, and not everyone.   There is very little information about MODY diabetes.   The most favorable subtype of MODY-diabetes, as I said, is the second. To maintain good health for the patient in most cases it is enough just to follow a diet. Recently, we have identified this most favorable subtype in a baby of three months. Mom was diagnosed with the same type of diabetes. In this case, the probability of having a child with a “gene breakdown” was 50%.

We had the opportunity to immediately take blood for analysis, we conducted a molecular genetic study and saw that the newborn has the same pathology as the mother’s.   The advantage of such an early diagnosis of the disease is that children are immediately prescribed proper nutrition: they limit sweets, make up individual diets, make sure that the child has enough physical activity. As a result, complications are extremely rare, and the sugar level is maintained normal.

In the case of MODY-diabetes, the correct diagnosis is also important because we can identify the disease in relatives. And at the preclinical stage, that is, in the period when the disease does not detect itself. If we find MODY-diabetes in children, we will certainly examine the parents, if necessary, grandparents.   We first send them to determine blood sugar before a meal, then – 2 hours after a meal. And someone from relatives find the disease in a latent form.

We work individually with this adult, tell him about proper nutrition and regimen, talking about the maximum possible cessation of smoking and alcohol, prescribing hypoglycemic drugs if necessary – and he lives quietly further, already protected from the negative effects of undiagnosed diabetes.

And if a child was diagnosed with the first type, and then MODY-diabetes was found on him, is it possible to transfer a child from insulin to pills?

– We have such cases. Refusal of insulin is carried out in a hospital under the supervision of a physician. We once got a 9-year-old boy diagnosed with type 1 diabetes. As a result of the survey, we identified MODY diabetes of the second subtype and transferred the child from insulin to tablets.   The boy began to feel much better. “On insulin,” he often fell sugar, there was a very unpleasant condition, the so-called hypoglycemia. Now the boy is 15 years old, he takes ¼ the minimum dosage of the pill. He feels well, hypoglycemia does not return.

Why is MODY diabetes of the second type dangerous ? After all, it doesn’t give complications and does not require taking sugar lowering drugs?   Why carry out difficult and expensive diagnostics, if the result is only the appointment of a diet?

– The only possible complication of MODY-diabetes of the second type may be macrosomia (that is, a very large size) of the fetus. This feature of the course of pregnancy arises in the case when the mother has MODY-diabetes of the second subtype, and the future child is all right. It is important to be aware of the presence of a gene mutation in this case in order to properly conduct a pregnancy (small doses of insulin are possible in some pregnant women) and to plan the tactics of management of labor.   In England and the United States , a blood test is made from the umbilical cord or amniotic fluid at 21-24 weeks of pregnancy.

But without exception, all types of diabetes require careful medical supervision when the child begins puberty, as well as during pregnancy.

 

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