INSERM U970, Paris Cardiovascular Research Center, Paris, France.
Mol Cell Endocrinol. 2012 Mar 24;350(2):206-15. doi: 10.1016/j.mce.2011.04.023. Epub 2011 Jun 1.
Aldosterone plays an essential role in the maintenance of fluid and electrolyte homeostasis in the distal nephron. Loss-of-function mutations in two key components of the aldosterone response, the mineralocorticoid receptor and the epithelial sodium channel ENaC, lead to type 1 pseudohypoaldosteronism (PHA1), a rare genetic disease of aldosterone resistance characterized by salt wasting, dehydration, failure to thrive, hyperkalemia and metabolic acidosis. This review describes the clinical, biological and genetic characteristics of the different forms of PHA1 and highlights recent advances in the understanding of the pathogenesis of the disease. We will also discuss genotype-phenotype correlations and new clinical and genetic entities that may prove relevant for patient's care in neonates with renal salt losing syndromes and/or failure to thrive.
醛固酮在维持远端肾单位的液体和电解质稳态中起着至关重要的作用。醛固酮反应的两个关键组成部分，即盐皮质激素受体和上皮钠通道 ENaC 的失功能突变，导致 1 型假性醛固酮减少症（PHA1），这是一种罕见的醛固酮抵抗性遗传疾病，其特征为盐耗竭、脱水、生长不良、高钾血症和代谢性酸中毒。本综述描述了不同形式的 PHA1 的临床、生物学和遗传学特征，并强调了对疾病发病机制的理解的最新进展。我们还将讨论基因型-表型相关性以及新的临床和遗传实体，这些实体可能与新生儿肾性盐丢失综合征和/或生长不良患者的治疗相关。
