Lamichhane Anita, Phuyel Rekha, Upreti Manish, Khadka Ramesh
Department of Pediatrics, Lumbini Medical College, Palpa, Nepal.
JNMA J Nepal Med Assoc. 2024 Oct;62(278):706-708. doi: 10.31729/jnma.8777. Epub 2024 Oct 31.
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ. The most common form, accounting for more than 95% of cases, is caused by 21-hydroxylase deficiency. Delay in the diagnosis and treatment can lead to life-threatening adrenal crisis with hemodynamic collapse. We report a case of a five-day-old male neonate with congenital adrenal hyperplasia and salt-wasting crisis. The diagnosis was made after comprehensive assessment of clinical features and laboratory investigations. He was treated with hydrocortisone and fludrocortisone and was discharged after one week.
先天性肾上腺皮质增生症(CAH)是一种罕见的常染色体隐性疾病,由肾上腺皮质醇生物合成相关基因的突变引起。根据酶缺陷的不同,症状、体征和实验室检查结果也有所不同。最常见的类型,占病例的95%以上,是由21-羟化酶缺乏引起的。诊断和治疗的延迟可导致危及生命的肾上腺危象并伴有血流动力学崩溃。我们报告一例5日龄男性新生儿先天性肾上腺皮质增生症并盐耗竭危象的病例。通过对临床特征和实验室检查的综合评估做出诊断。他接受了氢化可的松和氟氢可的松治疗,一周后出院。