Petersen S, Giese J, Kappelgaard A M, Lund H T, Lund J O, Nielsen M D, Thomsen A C
Acta Paediatr Scand. 1978 Mar;67(2):255-61. doi: 10.1111/j.1651-2227.1978.tb16314.x.
A boy with pseudohypoaldosteronism was followed from birth to the age of 7 years. Failure to thrive, vomiting, dehydration, hyponatraemia and urinary sodium loss were prominent findings. Urinary excretion of corticosteroid metabolites was normal. Before treatment, excessively high plasma renin concentration was found, associated with a marked activation of aldosterone secretion. A renal biopsy showed pronounced hypertrophy of the juxtaglomerular apparatus. Persisting metabolic acidosis and an insufficient urinary acidifying capacity suggested the presence of distal renal tubular acidosis. Treatment with sodium bicarbonate and sodium chloride from 19 to 31 months of age resulted in normal growth and normal physical and mental development. The plasma electrolytes were normalized but a pronounced activation of the renin-aldosterone system persisted after therapy, and on sodium restriction this system responded with a considerable further activation.
一名患有假性醛固酮减少症的男孩从出生起就受到跟踪观察，直至7岁。生长发育迟缓、呕吐、脱水、低钠血症和尿钠流失是主要的临床表现。皮质类固醇代谢产物的尿排泄量正常。治疗前，发现血浆肾素浓度过高，同时伴有醛固酮分泌的显著激活。肾活检显示肾小球旁器明显肥大。持续的代谢性酸中毒和尿酸化能力不足提示存在远端肾小管酸中毒。在19至31个月大时用碳酸氢钠和氯化钠进行治疗，使患儿生长正常，身心发育正常。血浆电解质恢复正常，但治疗后肾素-醛固酮系统仍持续显著激活，限制钠摄入时该系统会进一步大幅激活。
