Tajima Toshihiro, Morikawa Shuntaro, Nakamura Akie
Department of Pediatrics, Jichi Children's Hospital Medical Center Tochigi, Tochigi, Japan.
Department of Pediatrics, Hokkaido University School of Medicine, Hokkaido, Japan.
Clin Pediatr Endocrinol. 2017;26(3):109-117. doi: 10.1297/cpe.26.109. Epub 2017 Jul 27.
Pseudohypoaldosteronism (PHA) type 1 is a disease showing mineralocorticoid resistance in the kidney and/or other mineralocorticoid target tissues. Patients with PHA1 present very high plasma aldosterone and renin levels, but they develop excessive salt wasting. There are three types of PHA1. The systemic form of PHA1 is inherited in an autosomal recessive manner and causes severe life-long salt loss in multiple target tissues, such as sweat glands, salivary glands, the colonic epithelium, and the lung. In the systemic form of PHA1, life-long salt supplementation is necessary. The second type is the renal form, where aldosterone resistance is shown only in the kidney, and its inheritance is autosomal dominant. In the renal form of PHA1, salt supplementation generally becomes unnecessary by 1-3 yr of age. The third type is the secondary PHA1, which is strongly associated with urinary tract infections and/or urinary tract malformations. This review summarizes the clinical features and molecular basis of PHA1. Understanding of its pathogenesis can be helpful for the early diagnosis and clinical care of affected children with PHA1.
1型假性醛固酮增多症（PHA）是一种在肾脏和/或其他盐皮质激素靶组织中表现出盐皮质激素抵抗的疾病。PHA1患者的血浆醛固酮和肾素水平非常高，但会出现大量的盐分流失。PHA1有三种类型。全身性PHA1以常染色体隐性方式遗传，会导致多个靶组织（如汗腺、唾液腺、结肠上皮和肺）出现严重的终身盐分流失。对于全身性PHA1，终身补充盐分是必要的。第二种类型是肾性PHA1，仅在肾脏中表现出醛固酮抵抗，其遗传方式为常染色体显性。对于肾性PHA1，通常在1至3岁时就无需补充盐分。第三种类型是继发性PHA1，它与尿路感染和/或尿路畸形密切相关。本综述总结了PHA1的临床特征和分子基础。了解其发病机制有助于对受影响的PHA1儿童进行早期诊断和临床护理。
