Article
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.
Endocrine journal - 1 Jan 2013
Hatta Yoriko, Nakamura Akie, Hara Shinya, Kamijo Takashi, Iwata Junko, Hamajima Takashi, Abe Marie, Okada Mari, Ushio Masanobu, Tsuyuki Kazumichi, Tajima Toshihiro
Abstract excerpt
Pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by neonatal salt loss with elevated plasma aldosterone and renin levels. Two types of PHA1 have been described: an autosomal recessive systemic form and an autosomal dominant renal form, in which the target organ defect is co...
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