偽性低アルドステロン症I型  [in Japanese] Psedohypoaldosteronism type 1  [in Japanese]

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Abstract

偽性低アルドステロン症I型 (PHA1) は,レニン-アルドステロン系の亢進にもかかわらず,遠位尿細管におけるナトリウムの再吸収が障害されているため,低ナトリウム血症,高カリウム血症を呈することを特徴とするまれな尿細管疾患である。常染色体優性遺伝形式をとるものと常染色体劣性遺伝形式をとるものがあり,それぞれ重症度が異なる。近年,Bartter症候群II型で新生児期にPHA1とよく似た経過をたどる症例が報告されており,注意が必要である。PHA1は新生児期に適切な脱水・電解質管理がなされれば塩分補充療法のみで成長発達も改善される予後良好な疾患である。

 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.

Journal

  • Nihon Shoni Jinzobyo Gakkai Zasshi

    Nihon Shoni Jinzobyo Gakkai Zasshi 22(2), 123-125, 2009-11-15

    The Japanese Society for Pediatric Nephrology

References:  11

Cited by:  1

Codes

  • NII Article ID (NAID)
    10026411765
  • NII NACSIS-CAT ID (NCID)
    AN10328470
  • Text Lang
    JPN
  • Article Type
    Journal Article
  • ISSN
    09152245
  • Data Source
    CJP  CJPref  J-STAGE 
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