Rosendahl W, König M, Haack D, Vecsei P, Lewicka S
Univ.-Kinderklinik, Abteilung Pädiatrie I, Tübingen.
Klin Padiatr. 1993 May-Jun;205(3):180-4. doi: 10.1055/s-2007-1025224.
We report on three cases of Corticosterone Methyl Oxidase Typ II deficiency in two siblings and one boy. All three children were presented with typical symptoms of a saltlosing syndrome (vomiting, poor drinking, weight loss, hypotonia). Hyponatremia and hyperkalemia, low plasma aldosterone concentrations when related to high plasma-renin-activities suggested deficiency in the final steps of aldosterone biosynthesis. Variable degrees of enzyme deficiency and no relation of biochemical findings to the clinical symptoms were observed. Clinical symptoms became less severe with age. Diagnosis of CMO II-deficiency was established by an abnormal high ratio of 18-hydroxycorticosterone to aldosterone, by measurement of their precursors and metabolites in plasma and urine. In one sibling negative values may have been caused by suppression of the renin-angiotensin-system due to high sodium replacement therapy.
我们报告了两例兄弟姐妹及一名男孩患皮质酮甲基氧化酶Ⅱ型缺乏症的病例。所有三名儿童均出现失盐综合征的典型症状（呕吐、饮水减少、体重减轻、肌张力减退）。低钠血症和高钾血症，与高血浆肾素活性相关的低血浆醛固酮浓度提示醛固酮生物合成的最后步骤存在缺陷。观察到不同程度的酶缺乏，且生化检查结果与临床症状无关。临床症状随年龄增长而减轻。通过18-羟皮质酮与醛固酮的异常高比值，以及测量血浆和尿液中它们的前体和代谢产物，确诊为CMOⅡ缺乏症。在一名兄弟姐妹中，负值可能是由于高钠替代治疗抑制了肾素-血管紧张素系统所致。
