I型pseudohypoaldosteronism包括两个临床和遗传学上截然不同的实体与肾或多个目标器官缺陷。
文章的细节
-
引用
复制到剪贴板 -
Hanukoglu一
I型pseudohypoaldosteronism包括两个临床和遗传学上截然不同的实体与肾或多个目标器官缺陷。
中国性金属底座。1991年11月,73 (5):936 - 44。
- PubMed ID
-
1939532 (在PubMed]
- 文摘
-
I型pseudohypoaldosteronism (PHA)是一种遗传性疾病,其特征是盐浪费造成盐皮质激素靶器官没有反应。我们研究了两个家族包括与PHA共有9名患者。我家族的祖先出现肾盐浪费在婴儿期(呕吐,未能茁壮成长,身材矮小,低钠血症,血钾过高)和反应显著高盐饮食(2.5克/天)。补充钠在两岁时停止了。七其他家庭成员从三代,从无症状到中度PHA的临床表现多种多样。在受影响的成员(先证者,母亲和两个兄弟)、高醛甾酮症持续超过13年;然而,PRA逐渐下降到接近正常的价值观。持续高醛甾酮症面对减少PRA表示三级高醛甾酮症的发展由于球状带自主运作。谱系符合常染色体显性遗传模式的传播与变量表达式。家族二世先证者,血缘婚姻的产物,发展严重肾失盐岁9天。 She had also increased salivary and sweat electrolytes consistent with PHA resulting from multiple organ unresponsiveness to mineralocorticoids. Life threatening episodes of salt wasting recurred beyond the age of 2 yr. At 5 yr of age she still requires high amounts of salt supplements (14 g/day). A sister died at 9 days of age with PHA symptoms. Six close relatives (parents, three siblings, maternal uncle) showed no biochemical abnormalities. This pedigree was consistent with an autosomal recessive mode of inheritance. In view of the findings on these two kindreds and the analysis of those in the literature, we conclude that type I PHA includes two clinically and genetically distinct entities with either renal or multiple target organ defects.