关于先天性肾上腺皮质增生症非典型表现的病例报告

Karrothu Tejaswi, Y.V Siva Sankara Murty, Bonthu Sri Padma Priya Pallavi, Metta Saikiran
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引用次数: 0

摘要

我们报告了一个病例,一名 52 天大的婴儿被送往急诊室,主诉体重无法增加,10 天前开始出现喂食反流、对喂食接受度差、嗜睡一天,过去 8 小时内没有排尿。经检查,婴儿心动过速,有脱水症状,血气显示代谢性酸中毒,血清钠- 124meq/l,血清钾- 6.2meq/l。婴儿可能被诊断为发育不良伴严重败血症、先天性代谢错误(IEM)和 CAH,并接受了静脉输液、抗生素、葡萄糖酸钙、沙丁胺醇雾化和氢化可的松治疗。采取上述干预措施后,婴儿的水合状态和心电图变化有所改善。由于 17- 羟孕酮水平升高,考虑诊断为 CAH。由于患者经济拮据,没有进行基因分析,婴儿出院时口服氢化可的松、氟氢可的松和食盐(Nacl)。目前,婴儿发育良好,体重增加充足。
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A CASE REPORT ON ATYPICAL PRESENTATION OF CONGENITAL ADRENAL HYPERPLASIA
We report a case of 52-day old infant presented to casualty with complaint of failure to gain weight,10-day history of regurgitation of feeds, poor acceptance of feed and lethargy from one day, not passed urine in last 8hours. On examination baby had tachycardia with signs of dehydration, blood gas shows metabolic acidosis with serum sodium- 124meq/l, serum potassium- 6.2meq/l. A probable diagnosis of failure to thrive with severe sepsis, inborn errors of metabolism (IEM), and CAH was considered and baby was treated with intravenous fluids, antibiotics, calcium gluconate, salbutamol nebulisation and hydrocortisone. Following the above interventions, babys hydration status and ECG changes improved. The diagnosis of CAH was considered as 17- hydroxyprogesterone levels were elevated. Genetic analysis was not done due to patients economic constraints and baby was discharged with oral Hydrocortisone, Fludrocortisone and table salt (Nacl). Currently baby is thriving well with adequate weight gain.
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