关注先天性肾上腺皮质功能减退的诊治

Paying attention to the diagnosis and management of congenital adrenal insufficiency

先天性肾上腺皮质功能减退是一大组由各种遗传病因所致的糖皮质激素产生不足、伴或不伴盐皮质激素不足的病变。其临床表现往往特异性低,易导致诊断延迟。如不能及时给予合理治疗,发生危象时有致命风险。因近年分子诊断技术的进展,发现了新的遗传病因,拓展了对该病的认识。目前认为先天性肾上腺皮质功能减退是可以治疗的,合理替代治疗可使患儿健康成长,并具备正常的生活质量。因此,应进一步了解其发病机制、掌握临床诊治要点,避免误诊所致的危象风险。

Congenital adrenal insufficiency （CAI） comprises a fairly large group of disorders characterized by low pro- duction of glucoeorticoids with or without low production of mineralocorticoids. Diagnosis of CAI is often delayed due to its unspecific clinical symptoms, and missed diagnosis of CAI or inadequate treatment thereof may be fatal. Recently, new molecular genetic methods have revealed novel genes underlying CAI and have enhanced the knowledge of those dis- orders. They have the valid managements. Rational substitute treatment may make the patients avoid critical risk and get normal growth and normal live quality. Therefore, the pathogenetic mechanism should be further investigated. Pediatri- cians should master the keypoints of clinical diagnosis and treatment and try to avoid the risk due to misdiagnosis.