Poujol A, Rimet Y, Cournelle M A, Cornus P, Frayssinet R, Zarrouk F, Brusquet Y
Service de Pédiatrie, CHG, Aix-en-Provence.
Arch Fr Pediatr. 1993 Feb;50(2):127-30.
Type II pseudohypoaldosteronism is a rare tubulopathy defined by abnormal renal potassium excretion.
A 12 1/2 year-old girl, was admitted for dwarfism. Her parents were not consanguineous and her 5 living sibs were normal. At admission, she had moderate hypertension: systolic 130-150 mmHg; diastolic 80-100 mmHg and no pubertal development.
pH (arterial): 7.34; bicarbonates: 18-20 mEq/l; chloride: 112-120 mEq/l; potassium: 5.6-7 mEq/l; aldosterone: 200-700 pg/ml (N < 60); plasma renin activity: 0.4 ng/ml/hr (N 2.2 +/- 0.2). The bone maturation was 8 1/2 years. All the other renal function tests were normal. The titratable acidity was 22 mEq/day (N 20-40) and the ammonia excretion 15.2 mEq/l (N 44-61). The fractional excretion of potassium was 6.5% (N 11.8 +/- 1.9). This girl was given polystyrene sulfonate resin followed by hydrochlorothiazide (1 to 3 mg/kg/day). There was a subsequent improvement in all data, a growth spurt and pubertal development.
This is the fifth case of type II pseudohypoaldosteronism reported in childhood and the first one with hypertension. The beneficial effect of hydrochlorothiazide is underlined.
II型假性醛固酮减少症是一种罕见的肾小管病，其特征为肾脏排钾异常。
一名12岁半的女孩因身材矮小入院。她的父母非近亲结婚，她的5个在世兄弟姐妹均正常。入院时，她有中度高血压：收缩压130 - 150 mmHg；舒张压80 - 100 mmHg，且未出现青春期发育。
动脉血pH值：7.34；碳酸氢盐：18 - 20 mEq/l；氯：112 - 120 mEq/l；钾：5.6 - 7 mEq/l；醛固酮：200 - 700 pg/ml（正常<60）；血浆肾素活性：0.4 ng/ml/hr（正常2.2±0.2）。骨龄为8岁半。所有其他肾功能检查均正常。可滴定酸度为22 mEq/天（正常20 - 40），氨排泄量为15.2 mEq/l（正常44 - 61）。钾的分数排泄率为6.5%（正常11.8±1.9）。给该女孩服用聚苯乙烯磺酸钠树脂，随后服用氢氯噻嗪（1至3 mg/kg/天）。随后所有数据均有改善，出现生长加速和青春期发育。
这是儿童期报告的第五例II型假性醛固酮减少症病例，也是首例伴有高血压的病例。强调了氢氯噻嗪的有益作用。
