The relationship between nutritional status, vitamin A and zinc levels and oxidative stress in patients with ataxia-telangiectasia

Silva, R. da; Santos-Valente, Elisangela; Scomparini, Flávia Burim; Sarni, Roseli Oselka Saccardo; Costa-Carvalho, B. T.

doi:10.1016/j.aller.2013.02.013

Cited by 27 publications

(28 citation statements)

References 37 publications

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“…Several small cross-sectional studies have shown that patients with A-T exhibit high rates of malnutrition, short stature and reduced lean body mass [56][57][58][59] (E. Stewart, et al, Nottingham Children's Hospital, UK Paediatric National Clinic, Nottingham University Hospitals, NHS Trust, Nottingham, UK; personal communication). A high percentage (58%) of A-T patients had a BMI below the third percentile, despite apparently adequate energy intake especially until early adolescence, and this may reflect underlying hypercatabolism due to oxidative stress and inflammation [57].…”

Section: Nutritional Effects On Lung Disease and Immune Functionmentioning

confidence: 99%

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ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

et al. 2015

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Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting from dysfunctional swallowing due to neurodegenerative deficits; inefficient cough; and interstitial lung disease/pulmonary fibrosis. Malnutrition is a significant comorbidity. The increased radiosensitivity and increased risk of cancer should be borne in mind when requesting radiological investigations. Aggressive proactive monitoring and treatment of these various aspects of lung disease under multidisciplinary expertise in the experience of national multidisciplinary clinics internationally forms the basis of this statement on the management of lung disease in A-T. Neurological management is outwith the scope of this document.

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Section: Nutritional Effects On Lung Disease and Immune Functionmentioning

confidence: 99%

“…Poor weight gain may be an indicator of excessive caloric expenditure due to the increased work of breathing or difficulty taking in adequate calories [56][57][58].…”

Section: Nutritional Effects On Lung Disease and Immune Functionmentioning

confidence: 99%

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

et al. 2015

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“…In a recent study, we observed a high prevalence of micronutrient deficiencies involved in antioxidant defense in patients with AT, such as beta-carotene and zinc (50.0 and 42.8%, respectively) despite no differences in malondialdehyde levels [7] .…”

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confidence: 81%

Risk of Atherosclerosis in Patients with Ataxia Telangiectasia

et al. 2015

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Background and Aims: Evaluate the nutritional status, plasma concentration of vitamin E and markers of cardiovascular risk in ataxia telangiectasia (AT) patients. Methods: Cross-sectional study with 13 patients with AT and 22 healthy controls, evaluating the following factors: nutritional status, food intake, lipid profile, plasma concentration of vitamin E, malondialdehyde and high sensitivity C-reactive protein, linking them with atherosclerosis risk in AT patients. Results: Average age was 14.6 in the AT group, 30.8% were malnourished and 23.1% had stunting. A greater impairment of lean body mass was found in these patients. Concentrations of triglycerides (TG), total cholesterol (CT), LDL-c, non-HDL cholesterol (NHDL-c) were significantly higher in patients and HDL-c, lower. Vitamin E/total lipids and vitamin E/TG ratios were lower in the AT group, and significant inverse correlation between these ratios and NHDL-c, CT/HDL-c, and LDL-c/HDL-c, log TG/HDL-c was observed in the AT group. Alanine aminotransferase correlated directly and significantly with NHDL-c, CT/HDL-c and LDL-c/HDL-c, in patients. Conclusion: The alterations of lipid metabolism biomarkers suggestive of atherosclerotic risk of male AT patients coupled with lower vitamin E/total lipids ratio and low lean body mass may complicate the clinical course of the disease and emphasizes the importance of multidisciplinary care, routine monitoring of cardiovascular biomarkers and appropriate nutritional guidance.

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“…The onset of dysphagia appears to coincide with a decrease in nutritional status, although it was not possible to distinguish between nutritional deficiency as a cause or effect of the dysphagia in a cross sectional study [13]. Patients with A-T exhibit high rates of malnutrition, a short stature and reduced lean body mass [14][15][16][17]. The numerous factors that, together, contribute to poor growth include: neurodegeneration; limited food intake with progressive disease; dysphagia and/or swallowing incoordination; limited physical activity; hormonal changes such as hypogonadism, insulin resistance, glucose intolerance, abnormal expression of IGF1 (somatomedin C), and low levels of IGFBP3 (insulin-like growth factor binding protein-3); infections and an associated hyper-catabolic state [15,18].…”

Section: Lung Disease Associated With Dysfunctional Swallow and Ineffmentioning

confidence: 99%

Ataxia telangiectasia: why should the ERS care?

Bhatt

Bush

Gerven³

et al. 2015

Eur Respir J

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Neurological and immunological contributions to lung disease in A-T require proactive and multidisciplinary management http://ow.ly/TqT44 Why indeed should we care? The answer is that ataxia telangiectasia (A-T) patients will present to respiratory paediatricians for diagnosis, when standard testing, if the diagnosis is not made, may do irreparable harm; and both adult and paediatric respiratory physicians will be involved in managing the respiratory disease, which is a major cause of morbidity and mortality. So there is a real “need to know” which is why the ERS convened a task force on A-T, whose findings are published in the European Respiratory Review [1]. A-T is an autosomal recessive, progressive, multisystem disease caused by mutations in the gene ATM (Ataxia-Telangiectasia Mutated) (11q22.3). This gene is expressed ubiquitously and encodes ATM kinase, a serine/threonine protein kinase, which is involved in signalling following cellular stress. It activates over a hundred proteins involved in the DNA damage response, cell cycle regulation and other pathways. ATM has important roles in neuroprotection, both adaptive and innate immunity, inflammatory responses, metabolism (e.g. insulin signalling), longevity and fertility. It has been estimated that a human cell is confronted with one million DNA lesions every day, placing DNA damage response mechanisms in a position of paramount importance. This has to be a very precise and efficient system to prevent cells with damaged DNA from dividing further or being passed on through germline mutation. The DNA double strand break (DSB) represents one of the most cytotoxic DNA lesions. DSBs can be generated by exposure to ionising radiation or various chemical compounds [2]. The Orphanet registry estimates the average prevalence of A-T to be 1 per 100 000 children [3]. A-T has a large number of other complex and diverse manifestations that vary with age. Neurological symptoms, particularly progressive cerebellar ataxia and abnormalities of the eye movements appear from an early age, and malignant disease is common. Some children first come to medical attention because of recurrent sino-pulmonary infections (which affect ∼50% of children with A-T). Oculocutaneous telangiectasia may not occur until 4 or 5 years of age, so this clue is not available in early life. Laboratory tests may show an elevated alpha-fetoprotein level, immunological deficiencies and chromosomal instability; one lesson is to have a low threshold for the measurement of alpha-fetoprotein as a screening test, especially in young children with infections plus another sign, especially drooling or ataxia. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer, hence the importance of receiving respiratory management right from the start. Also, it is good to consider the diagnosis before rather than after embarking on radiological investigations such as high-resolution computed tomography (HRCT), given the sensitivity of the patients to radiation. There is n...

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The relationship between nutritional status, vitamin A and zinc levels and oxidative stress in patients with ataxia-telangiectasia

Abstract: The AT patients assessed showed no change in nutritional status for vitamin A and zinc; however, they presented severe impairment in overall nutritional status observed and correlation between retinol with MDA and IgA.

Cited by 27 publications

References 37 publications

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Risk of Atherosclerosis in Patients with Ataxia Telangiectasia

Ataxia telangiectasia: why should the ERS care?

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