Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia

• Published in: Nutrition (Burbank, Los Angeles County, Calif.) Los Angeles County, Calif.), 2018-02, Vol.46, p.48-52
• Main Authors: Krauthammer, Alexander, Lahad, Avishay, Sarouk, Yifat, Somech, Raz, Nissenkorn, Andreea, Modan-Moses, Dalit, Levi-Kidron, Hila, Sadeh-Kon, Tal, Weiss, Batia
• Format: Article
• Language: English
• Subjects: Age; Ataxia; Ataxia telangiectasia; BMI-Z; Body mass index; Body size; Caloric intake; Cell cycle; Children; Choking; Cough; Demographics; Deoxyribonucleic acid; Diaries; Dietitians; DNA; Energy requirements; Food intake; Girls; Insertion; Kinases; Laboratories; Liver diseases; Males; Malnutrition; Meals; Mutation; Nutrition; Organs; Ostomy; Patients; Percutaneous gastrostomy; Physical activity; Proteins; Respiratory tract; Respiratory tract diseases; Statistical analysis; Tubes
• ISSN: 0899-9007; 1873-1244
• DOI: 10.1016/j.nut.2017.08.008

Ataxia telangiectasia (A-T) is a rare genetic disease involving multiple organs, but, to our knowledge, data on long-term gastrointestinal and nutritional involvement are scarce. The aim of this study was to longitudinally review the nutritional and gastrointestinal aspects of A-T. This was a retrospective chart review of patients followed from 1986 to 2015 at one center. Demographic, laboratory, and nutritional data were retrieved. Body mass index (BMI) values were converted to BMI Z-score (BMI-Z). Caloric intake was estimated by food diaries and compared with estimated energy requirements for sex and age with a physical activity level factor for light physical activity. The study included 53 patients (28 males [53%], ages 14.6 ± 5.2 y). BMI-Z was inversely correlated with age (r = 0.48; P