摘要
Abstract
Congenital adrenal hyperplasia(CAH)is a relatively rare autosomal recessive genetic disease,the incidence of which is less than one in ten thousand in China,but it is extremely harmful.CAH is clinically classified into various types such as 21-hydroxylase deficiency,3β-hydroxyisoalcohol dehydrogenase deficiency,11β-hydroxylase deficiency,and 17α-hydroxylase deficiency,with 21-hydroxylase deficiency being the most common type.The clinical diagnosis of CAH depends on gene diagnosis,clinical characteristics,and biochemical indicators,etc.However,due to the diversity of CYP21A2 gene mutations that cause the pathogenesis of CAH,the gene test results may be negative.Clinical attention should be paid to the level and clinical characteristics of 17α-hydroxyprogesterone in order to make a clear diagnosis and avoid affecting the diagnosis and treatment.The treatment of CAH is mainly symptomatic treatment and hormone replacement therapy.With the development of biomedical technology,targeted drugs and gene technology are gradually applied to the treatment of CAH,but they are still in research and have not been widely used.As for the prognosis of CAH,assisted reproductive technology brings new hope to patients with fertility requirements,and has great prospects in improving the prognosis.This paper reported a case of premature infant with CAH,whom was diagnosed as CAH by clinical manifestations and biochemical characteristics.After hydrocortisone treatment and symptomatic treatment,the weight of the child increased steadily,the electrolyte was basically normal,and the 17α-hydroxyprogesterone level fell to the target control range.The treatment effect was good,which provided reference for the diagnosis and treatment of clinical premature infants with CAH.关键词
先天性肾上腺皮质增生症/糖皮质激素/氢化可的松Key words
Congenital adrenal hyperplasia/Glucocorticoid/Hydrocortisone分类
医药卫生
