ABSTRACT
11ß-hydroxylase deficiency is a rare autosomal recessive disorder due to impaired steroidogenesis in the adrenal cortex caused by pathogenic mutations in the CYP11B1 gene. The main clinical manifestations are determined by a deficiency of cortisol, ACTH hyperproduction, excessive androgens secretion and the accumulation of 11-deoxycorticosterone, which leads to the development of arterial hypertension. In the diagnostic search, it is important to take into account the ethnicity of the patient, since the frequency of the disease and the prevalence of mutations differ between ethnic groups. The article presents a clinical case of 11ß-hydroxylase deficiency as the result of compound heterozygous mutations in the CYP11B1 gene in a patient of Turkic origin. This case shows the clinical manifestations and the development of complications of 11ß-hydroxylase deficiency, the stages of differential diagnosis of patients with 21-hydroxylase deficiency.
Subject(s)
Adrenal Hyperplasia, Congenital , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/genetics , Child, Preschool , Delayed Diagnosis/adverse effects , Humans , Hydrocortisone/therapeutic use , Mutation , Steroid 11-beta-Hydroxylase/geneticsABSTRACT
Blood plasma lipoprotein lipase level was measured in lung and stomach cancer patients before surgery and during postoperative period. A drop in the enzyme level was observed, particularly, in patients at stage IV. Postoperative infusion and drug therapy was followed by increase in the enzyme activity in stage III disease whereas at stage IV, only a tendency of lipoprotein lipase to rise was observed. Deterioration in patient condition led to a sharp decrease in the enzyme activity.
