Picco P, Garibaldi L, Cotellessa M, DiRocco M, Borrone C
Second Paediatric Division, G. Gaslini Institute, Genoa, Italy.
Eur J Pediatr. 1992 Mar;151(3):170-3. doi: 10.1007/BF01954376.
Corticosterone methyl oxidase type II (CMO II) deficiency is an uncommon cause of salt-wasting in infancy. We describe a boy who presented with recurrent dehydration and severe failure to thrive in the first 3 months of life, associated with mild hyponatraemia (serum Na+ 127-132 mEq/l) and hyperkalaemia (serum K+ 5.3-5.9 mEq/l). The diagnosis was suggested by an elevated plasma renin activity (PRA): serum aldosterone ratio, and subsequently confirmed by an elevated serum 18-hydroxycorticosterone: aldosterone ratio. Treatment with 9 alpha-fluorohydroxycortisone normalized growth parameters and PRA levels. CMO II deficiency should be considered in infants with recurrent dehydration and failure to thrive, even when serum sodium and potassium levels are not strikingly abnormal.
II型皮质酮甲基氧化酶（CMO II）缺乏是婴儿期盐耗的罕见原因。我们描述了一名男婴，在出生后的前3个月出现反复脱水和严重生长发育迟缓，伴有轻度低钠血症（血清Na+ 127 - 132 mEq/l）和高钾血症（血清K+ 5.3 - 5.9 mEq/l）。血浆肾素活性（PRA）与血清醛固酮比值升高提示了诊断，随后血清18 - 羟皮质酮与醛固酮比值升高进一步证实了诊断。9α - 氟羟皮质酮治疗使生长参数和PRA水平恢复正常。对于反复脱水和生长发育迟缓的婴儿，即使血清钠和钾水平没有明显异常，也应考虑CMO II缺乏。
