儿童盐皮质激素缺乏症

Mineralocorticoid Defects in Children

作者信息

Dayno Allie, Kilberg Marissa J., Vogiatzi Maria G.

机构信息

Pediatric Endocrinology Fellow, Children’s Hospital of Philadelphia, PA 19104

Assistant Professor of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104

Abstract

Isolated aldosterone deficiency in children related either to impaired secretion by the adrenal gland or to aldosterone resistance in target tissues is rare. The incidence is estimated to be <1:1,000,000 for congenital isolated primary hypoaldosteronism and 1:66,000 to 1:166,000 for congenital aldosterone resistance (1). Children may present with salt wasting, hyponatremia, hypotension, hyperkalemia, metabolic acidosis, and failure to thrive. There is a wide phenotypic spectrum based on the severity and etiology of aldosterone deficiency or action. In this chapter, we briefly discuss the physiology of mineralocorticoids in newborns, categorize the causes of isolated hypoaldosteronism, and review the etiologies to guide clinical and laboratory evaluation and treatment. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.

摘要

儿童孤立性醛固酮缺乏症，无论是由于肾上腺分泌受损还是靶组织对醛固酮抵抗所致，均较为罕见。先天性孤立性原发性醛固酮减少症的发病率估计<1:1,000,000，先天性醛固酮抵抗的发病率为1:66,000至1:166,000(1)。患儿可能出现失盐、低钠血症、低血压、高钾血症、代谢性酸中毒和生长发育迟缓。基于醛固酮缺乏或作用的严重程度和病因，存在广泛的表型谱。在本章中，我们简要讨论新生儿盐皮质激素的生理学，对孤立性醛固酮减少症的病因进行分类，并回顾病因以指导临床和实验室评估及治疗。如需全面涵盖内分泌学的所有相关领域，请访问我们的在线免费网络文本，WWW.ENDOTEXT.ORG。