Psedohypoaldosteronism type 1

DOI 1 Citations 19 References
  • Kanda Kyoko
    Department of Pediatrics, Kobe University Graduate School of Medicine
  • Nozu Kandai
    Department of Pediatrics, Kobe University Graduate School of Medicine
  • Hashimura Yuya
    Department of Pediatrics, Kobe University Graduate School of Medicine
  • Iijima Kazumoto
    Department of Pediatrics, Kobe University Graduate School of Medicine
  • Matsuo Masafumi
    Department of Pediatrics, Kobe University Graduate School of Medicine

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  • 偽性低アルドステロン症Ｉ型

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Abstract

 Pseudohypoaldosteronism type 1 (adPHA1) is a rare inherited condition that is characterized by ranal resistance to aldsterone, with salt wasting, hyperkalemia, and metabolic acidosis. At least two forms of PHA1, autosomal dominant (adPHA1) and recessive forms (arPHA1) of the disease have been descried. In most cases, adPHA1 is caused by mutations of the gene coding human mineralcorticoid receptor (MR), and arPHA1 is caused by genes coding epithelial Na channel (ENaC). AdPHA1 form shares many of the same clinical features as arPHA1, including failure to thrive, salt loss, hyperkalemia, and metabolic acidosis despite elevated aldosterone and plasma renin activity (PRA) levels. However, patients with arPHA1 generally have much severe symptoms than them with adPHA1 patients. Recently, it is reported that the symptoms with PHA1 are similar to those with Bartter syndrome type II. Patients with PHA1 genenrally require oral salt supplementation, but typically show a gradual clinical improvement with regard renal salt loss during childhood.

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