Espinasse-Holder M, Vanderbecken S, Cartigny M, Stuckens C, Weill J
Service d'endocrinologie pédiatrique, hôpital Jeanne-de-Flandre, CHRU de Lille, France.
Arch Pediatr. 1999 Oct;6(10):1077-80. doi: 10.1016/s0929-693x(00)86983-3.
Type Ib pseudohypoaldosteronism is a congenital disorder characterized in the newborn by salt loss caused by multiple end-organ resistance to aldosterone. An autosomal recessive mode of inheritance has been reported. Its particularity is the spontaneous improvement by 18 months to 2 years, due to an improved tubular response of the kidneys to mineralocorticoids, or earlier when given salt supplements once the diagnosis is made.
We observed three children with this disease, which was revealed by day 8 to day 15 of life; one of these presented respiratory symptoms identical to those of cystic fibrosis, and another one an apparently chance association with a rod myopathy.
Recent findings in the literature demonstrate the molecular aspects of pseudohypoaldosteronism and lead to an interesting comparison with cystic fibrosis by explaining their similar physiopathology through the activity of epithelial sodium channels.
I b型假性醛固酮减少症是一种先天性疾病，在新生儿期表现为多个终末器官对醛固酮抵抗导致的失盐。已有报道其为常染色体隐性遗传模式。其特点是在18个月至2岁时可自发改善，这是由于肾脏对盐皮质激素的肾小管反应有所改善，或者在确诊后给予补充盐分的情况下可更早改善。
我们观察了3例患有该病的儿童，在出生后第8天至第15天被发现；其中1例出现与囊性纤维化相同的呼吸道症状，另1例明显偶然合并杆状肌病。
文献中的最新发现揭示了假性醛固酮减少症的分子层面，并通过上皮钠通道的活性解释其相似的生理病理学，从而引发了与囊性纤维化的有趣比较。
