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Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child
- Source :
- Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual), Universidade de São Paulo (USP), instacron:USP
- Publication Year :
- 2017
- Publisher :
- Karger, 2017.
-
Abstract
- Introduction: 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. Patient and Results: A boy diagnosed with AAAS presented with short stature and increased oxidative stress in vivo assessed by increased thiobarbituric acid reactive substances (TBARS), which are markers of lipid peroxidation, and by the susceptibility of LDL to oxidation and the capacity of HDL to prevent it. A homozygous missense germline mutation (c.523G>T, p.Val175Phe) in AAAS was identified. N-acetylcysteine (600 mg orally, twice daily) decreased oxidative stress but did not change the patient’s growth pattern. Conclusions: An increase in oxidative stress is reported for the first time in vivo in an AAAS patient. N-acetylcysteine was capable of decreasing TBARS levels, reducing the susceptibility of LDL to oxidation and improving the antioxidant role of HDL. The long-term effect of antioxidant treatment should be evaluated to determine the real benefit for the prevention of the degenerative process in AAAS.
- Subjects :
- Male
0301 basic medicine
medicine.medical_specialty
Allgrove Syndrome
Antioxidant
Endocrinology, Diabetes and Metabolism
medicine.medical_treatment
030204 cardiovascular system & hematology
Triple-A syndrome
medicine.disease_cause
Antioxidants
Acetylcysteine
Lipid peroxidation
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Endocrinology
Internal medicine
medicine
TBARS
Adrenal insufficiency
Adrenal insufficiency, Triple A syndrome, Allgrove syndrome, N-acetylcysteine, Thiobarbituric acid
Humans
ddc:610
Child
Growth Disorders
business.industry
CORTISOL
Nebenniereninsuffizienz, Triple-A-Syndrom, Allgrove-Syndrom, N-Acetylcystein, Thiobarbitursäure
Infant
medicine.disease
Esophageal Achalasia
Oxidative Stress
Treatment Outcome
030104 developmental biology
chemistry
Child, Preschool
Pediatrics, Perinatology and Child Health
Reactive Oxygen Species
business
Oxidative stress
Adrenal Insufficiency
medicine.drug
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual), Universidade de São Paulo (USP), instacron:USP
- Accession number :
- edsair.doi.dedup.....0bdf47fb200b79072cff8487f4b418d8