RESULTS OF A 20-YEAR FOLLOW-UP OF CHILDREN WITH GROWTH HORMONE DEFICIENCY IN THE REPUBLIC OF TATARSTAN

One of the most important parameters of health in children is growth. Stunted growth leads to the development of inferiority complex in patients and often hampers social self-realization. Over the past two decades, the Republic of Tatarstan has been actively diagnosing and treating growth hormone deficiency in children with short stature. Children with isolated growth hormone deficiency receive monotherapy with recombinant growth hormone. Early treatment of children with growth hormone deficiency led to an improvement in anthropometric parameters and, consequently, psychological and social adaptation of this group of patients

The clinical case of familial restrictive cardiomyopathy

Restrictive cardiomyopathy often results in chronic heart failure. Knowledge of family history and genetic examination are extremely important for the early diagnostics of a family restrictive cardiomyopathy and prescription of non-specific therapy. The article describes clinical case of familial restrictive cardiomyopathy with a burdened family history

Diabetes and family hypercholesterolemia in a child: is it real?

Diabetes mellitus type 1 is one of the most common chronic diseases among children. It is a pathology of carbohydrate, fat and protein metabolism caused by insulin deficiency in the target tissue. Changes in the lipid profile can be both secondary and primary. The article describes a clinical case of a combination of diabetes mellitus type 1 and family hypercholesterolemia in a child. It presents the clinical and laboratory results of the examination of the child and his parents. Familial hypercholesterolemia is confirmed by mutation of the low density lipoprotein receptor gene (LDLR) in the heterozygous state. In addition, the proband has a polymorphism of the SLCO1B1 gene, which should be considered when prescribing therapy. The demonstrated clinical case shows that familial hypercholesterolemia can be an independent disease, aggravating the course of diabetes mellitus and requiring correction of the therapy