Popow C, Pollak A, Herkner K, Scheibenreiter S, Swoboda W
Department of Paediatrics, University of Vienna, Austria.
Acta Paediatr Scand. 1988 Jan;77(1):136-41. doi: 10.1111/j.1651-2227.1988.tb10612.x.
The clinical course of two siblings with a severe form of pseudohypoaldosteronism was followed over a period of seven and five years respectively. Both children persistently had a high sodium-potassium excretion ratio in the urine, sweat, saliva, and stools as well as high serum concentrations of aldosterone and renin and an increased urinary excretion of tetrahydroaldosterone. Despite sustained treatment with sodium chloride (10-40 mmol/kg/d) and cation exchange resin (sodium polystyrole sulfonate 0.5-2 g/kg/d) they repeatedly developed episodes of salt wasting and hyperkalemia which occurred mainly during uncomplicated respiratory tract infections. Aldosterone receptor characteristics were studied in the cytosol of the rectal mucosa at ages 2.5 years and 6 months respectively. Compared to age matched controls there was a decreased affinity for aldosterone at the low affinity binding site. Among the members of the family, the father and one of his sisters had high concentrations of sodium in the sweat and an increased urinary excretion of tetrahydroaldosterone.
分别对两名患有严重形式假性醛固酮增多症的兄妹进行了为期七年和五年的临床病程跟踪。两个孩子的尿液、汗液、唾液和粪便中钠钾排泄率持续偏高，血清醛固酮和肾素浓度升高，四氢醛固酮尿排泄增加。尽管持续接受氯化钠（10 - 40 mmol/kg/d）和阳离子交换树脂（聚苯乙烯磺酸钠0.5 - 2 g/kg/d）治疗，但他们仍反复出现失盐和高钾血症发作，主要发生在无并发症的呼吸道感染期间。分别在2.5岁和6个月时对直肠黏膜细胞质中的醛固酮受体特征进行了研究。与年龄匹配的对照组相比，低亲和力结合位点对醛固酮的亲和力降低。在该家族成员中，父亲及其一个姐妹汗液中钠浓度高，四氢醛固酮尿排泄增加。
