Functional state of the kidneys in patients with acute coronary syndrome against the background of newly identified disorders of carbohydrate metabolism: a multidisciplinary problem.

BACKGROUND: Determining the relationship between cardiovascular risks, carbohydrate metabolism disorders, and renal dysfunction can help in creating new tools for their management and for better interaction of specialists in a multidisciplinary team. The purpose of this study was to determine the functional state of the kidneys and carbohydrate metabolism in patients with acute coronary syndrome without a history of such disorders. METHODS: 200 patients of the cardiology department of the City Clinical Hospital No. 7 in Almaty were examined using laboratory diagnostics and subsequent statistical data processing. RESULTS: Acute coronary syndrome develops in 63% of cases against the background of previous disorders of carbohydrate metabolism - prediabetes (45.5%) and type 2 diabetes mellitus (17.5%). In this group of patients, in the presence of disorders of carbohydrate metabolism, in all cases, it is accompanied by acute renal damage. It was noted that diabetes mellitus in newly diagnosed patients actually had a certain duration and occurred much earlier than cardiovascular complications - this was evidenced by an increased level of glycated hemoglobin. CONCLUSIONS: Such results indicate the need for early diagnosis of cardio-reno-metabolic syndrome in patients with cardiovascular complications, as well as timely administration of drugs that simultaneously have antidiabetic, cardio- and nephroprotective effects.

Genotype-phenotype association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children.

OBJECTIVE: The purpose of this study was to investigate the clinical manifestation of various forms of congenital adrenal hyperplasia (CAH) in children of the Republic of Kazakhstan, depending on their genotype. DESIGN: The study analysed 50 patients diagnosed with CAH from 7 regions of Kazakhstan with different ethnic origins: 35 Kazakhs (70.0%), 8 Russians (16.0%), 2 Turks (4.0%), 2 Ukrainians (4.0%), 2 Uzbeks (4%), 1 Uighur (2%). All the children studied were from 0 to 18 years old, and their average age was 5.7 years ±3.9. In addition, all children were divided into groups depending on the form of the disease according to the phenotypic manifestation of the disease: salt-wasting (SW) and simple virile (SV) forms. Most of the patients suffered from SW - 32 (64.0%), and a smaller group had SV - 18 (36.0%), also one boy with SW was diagnosed with TART syndrome. MEASUREMENTS: 50 Kazakh children with the classical form of CAH were analysed. Depending on the severity of the mutations, patients were divided into 4 groups: zero groups (the most severe mutations), A, B, and C. RESULTS: According to the results of the study, the salt-wasting form of CAH turned out to be more common than the simple virile form. A high correlation was observed in groups with mutations of high and moderate severity - 0 and A, while group C showed a strong variability of the phenotype. Thus, the correspondence between genotype and phenotype decreased along with the decrease in the severity of the disease. CONCLUSIONS: The relationship between the genotype and the phenotype of both forms of CAH exists indirectly, through the activity of the 21-hydroxylase enzyme. Mutations in the CYP21A2 gene affect the level of the synthesized enzyme, which, in turn, determines the degree of hormone production in the blood.