Open AccessTriple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child
Author(s) -
Maria Candida Barisson Villares Fragoso,
Edoarda Vasco de Albuquerque Albuquerque,
Ana Luiza de Almeida Cardoso,
Paula Waki Lopes da Rosa,
Rodrigo Bomeny de Paulo,
Maria Heloisa Massola Schimizu,
Antônio Carlos Seguro,
Marisa Passarelli,
Katrin Koehler,
Angela Huebner,
Madson Q. Almeida,
Ana Claudia Latrônico,
Ivo J.P. Arnhold,
Berenice B. Mendonça
Publication year - 2017
Publication title -
hormone research in paediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.816
H-Index - 89
eISSN - 1663-2826
pISSN - 1663-2818
DOI - 10.1159/000465520
Subject(s) - tbars , oxidative stress , acetylcysteine , endocrinology , medicine , lipid oxidation , lipid peroxidation , antioxidant , chemistry , biochemistry
Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients' fibroblasts in vitro, may be a central disease mechanism. N-acetylcysteine protects renal function in patients with kidney injuries associated with increased oxidative stress and improves viability of AAAS-knockdown adrenal cells in vitro.
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