Information on the features of the course of diabetes mellitus in newborns (DLS) is limited to a small number of descriptions of individual cases of the disease without any attempt to generalize and analyze (5,7,9). The latter is explained by the comparative rarity of this pathology and its intravital diagnosis (1.9). Since we have the largest number of observations (8 children), comparing our data with publications from other authors, we found it possible to identify some patterns of the course and evolution of the disease, as well as express thoughts on its pathogenesis, treatment and rehabilitation of children.
This communication is based on materials of a long-term (more than 12 years) follow-up of children in whom signs of diabetes mellitus were detected in the neonatal period. Although this pathology in newborns is manifested by a relatively small number of syndromes, deep metabolic disorders are often masked by a variety of clinical manifestations. It is with this that, as a rule, the late diagnosis of diabetes and often its unfavorable outcome is associated.
Against the background of hyperglycemia and glucosuria, as well as ketosis and significant shifts in the CSR, the most constant signs of the disease were excessive loss of body weight and a slowdown in its recovery, which developed as a result of frequent vomiting, diarrhea and polyuria with exicosis. It should be noted that, that submission by Chang et al. the crucial role of insufficiency of noradrenergic regulation of enterocyte function, as the main cause of diarrhea in diabetes mellitus, in general, does not exhaust the problem. The presence in the feces of pathological inclusions in the form of mucus and undigested components of breast milk, an increased amount of neutral fat and leukocytes, the results of a study of the processes of intestinal digestion and absorption using differentiated loads with disaccharides, a lipoid test, a test with alpha-xylose, determination of steocrit and the activity of pancreatic enzymes in blood, urine and feces, allowed us to associate digestive disorders with insufficiency of exocrine pancreatic functions. The pancreatogenic nature of malabsorption syndrome, in addition, was confirmed by the high efficiency of replacement therapy with pancreatic enzymes. However, it should be borne in mind that the success of such enzyme therapy is always accompanied by an increase in glycemia due to a more complete absorption of carbohydrates in the small intestine. To stabilize its level, a corresponding increase in the dose of insulin is required.
In the early stages of DLS, the most common false diagnosis was a traumatic brain injury, pneumonia, sepsis, and distress syndrome. And this is no coincidence. In our opinion, the cause of erroneous diagnoses is the syndromological approach to the diagnosis of diseases in newborns. A special selection of variants of clinical NSD masks will avoid many errors. Our own observations and literature data convince us that the diagnosis of diabetes mellitus was timely in all cases if glycemia were determined in situations where the signs of deep depression and the severity of the condition of the newborn baby cannot be fully explained.
So, in 3 patients, congenital pancreatic hypoplasia was the cause of diabetes. One of them died at the age of two months with symptoms of diabetes decompensation. At autopsy, only a few islets of Langerhans were found in the small pancreas. In the other two, the presence of pancreatic hypoplasia is confirmed by ultrasound echotomoscopy of the organ. It is noteworthy that in these children, during the treatment process, they had to review the insulin dose several times in the direction of reduction, and then completely abandon it.
At first glance, the tendency for a gradual increase in endogenous hormone production contradicts the diagnosis of congenital pancreatic hypoplasia. However, an analysis of the literature on the formation of organ function in ontogenesis suggests that this leads to an increase in the mass of insulin producing centers due to the transformation of duct epithelium into active b-cells. Compliance with the principle of optimal insulin therapy for diabetes is important for several reasons. The point is not only that an overdose of the hormone threatens the development of hypoglycemia, which is difficult to diagnose in newborns. The suppression of the processes of cell transformation at the same time deprives the child of the possibility of recovery. It should be borne in mind that excess hormone, contributing to increased weight gain of the child’s body, leads to paratrophy and obesity with the likelihood of developing subsequently obese diabetes.
In another 3 children, SDN was a family disease and was recorded sequentially in the 3rd and even 4th generations. The type of inheritance was autosomal dominant. An analysis of the pedigrees revealed the following pattern: as we approach the current generation, the manifestation of the disease occurred at an increasingly young age. The same features of age-related manifestations of familial diabetes mellitus were noted in a review by A. Pytel (2). In this regard, a brief extract from the medical history of the newborn is very demonstrative.
Girl B. was born from a third pregnancy with toxicosis. Body weight at birth 3.100 g The girl’s mother (22 years old) is suffering from third-degree obesity, kidney anomaly, complicated by pyelonephritis, and hypertension. Two previous pregnancies ended unsuccessfully: a full-term boy died on the third day (diagnosis: craniocerebral trauma), the second pregnancy ended in the fourth month.
The early neonatal period was uneventful. Shortly after discharge from the maternity hospital, the girl was transferred to artificial feeding. A few days later she fell ill with acute respiratory viral infections with severe obstructive syndrome. After intramuscular injection of a solution of ephedrine, the girl lost consciousness, convulsions appeared. Hospitalized with the assumption of viral meningoencephalitis.
In cerebrospinal fluid, a sharp increase in glucose concentration was detected – 18 mmol / L. Immediately, the blood glucose was determined, the level of which was 24 mmol / l. It became clear that the patient is in a state of hyperglycemic coma due to diabetes. Prescribing insulin and conducting infusion therapy allowed the baby to be taken out of a coma and compensate for metabolic disturbances.
Now the girl is more than one year old, she has been prescribed replacement therapy with insulin preparations. It is developing satisfactorily. Given that insulin demand remains stable, this case of diabetes can be considered permanent.
Such cases were in previous generations of this family. It is noteworthy that all adult family members suffer from recurrent pancreatitis, the hereditary nature of which is beyond doubt. Great-grandfather proband got diabetes at the age of 80, grandmother – at 39 years old. The mother has no obvious signs of diabetes, however, the study of glycemic curves after glucose loading revealed in her a decrease in the reserve capacity of the insular apparatus characteristic of prediabetes. In one child, diabetes mellitus was combined with multiple malformations caused by intrauterine infection with rubella virus, in another with multiple epiphyseal dysplasias.
A similar syndrome was described by Wolkott and Rallison (10): a child after prolonged remission at the age of 12 years developed a typical insulin-dependent diabetes mellitus.
Such variability of outcomes of neonatal diabetes mellitus and the possibility of relapse in the separated time indicate the need for continuous and long-term follow-up of children who have had diabetes.