High prevalence of vitamin D deficiency in patients with xeroderma pigmetosum-A under strict sun protection

• Published in: European journal of clinical nutrition 2015-06, Vol.69 (6), p.693-696
• Main Authors: Kuwabara, A, Tsugawa, N, Tanaka, K, Uejima, Y, Ogawa, J, Otao, N, Yamada, N, Masaki, T, Nishigori, C, Moriwaki, S, Okano, T
• Format: Article
• Language: English
• Subjects: 25-Hydroxyvitamin D 2 - blood; 692/700/2814; 692/700/565/2072; Adolescent; Adult; Calcifediol - blood; Calciferol; Child; Clinical Nutrition; Combined Modality Therapy - adverse effects; Cross-Sectional Studies; Deoxyribonucleic acid; Diet; Dietary intake; Dietary supplements; DNA; DNA damage; Enteral nutrition; Epidemiology; Female; Food intake; Genetic disorders; Health risk assessment; Hospitals, University; Humans; Internal Medicine; Irradiation; Japan - epidemiology; Life Style; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Nutrient deficiency; Nutrition; Nutritional Status; original-article; Outpatient Clinics, Hospital; Parathyroid; Parathyroid hormone; Parathyroid Hormone - blood; Patient Compliance; Prevalence; Prevalence studies (Epidemiology); Public Health; Radiation damage; Risk; Serum levels; Skin cancer; Skin diseases; Skin Neoplasms - etiology; Skin Neoplasms - prevention & control; Statistics; Sunscreening Agents - adverse effects; Sunscreening Agents - therapeutic use; Ultraviolet radiation; Vitamin D; Vitamin D deficiency; Vitamin D Deficiency - epidemiology; Vitamin D Deficiency - etiology; Vitamin deficiency; Xeroderma pigmentosum; Xeroderma Pigmentosum - blood; Xeroderma Pigmentosum - physiopathology; Xeroderma Pigmentosum - therapy; Young Adult
• ISSN: 0954-3007; 1476-5640
• DOI: 10.1038/ejcn.2015.1

Background/objectives: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by defective repair of ultraviolet (UV) irradiation-induced DNA damage and high risk of skin cancer. Thus, these patients require strict photoprotection. Considering the importance of UV-mediated cutaneous vitamin D production, such rigorous photoprotection would cause vitamin D deficiency. Then, we have studied the vitamin D status in patients with XP-A, a group requiring the most strict photoprotection. Subjects/methods: Twenty-one patients with XP-A (aged 6–25) were evaluated for their vitamin D intake, serum levels of 25-hydroxy-vitamin D (25OHD) and parathyroid hormone (PTH). Vitamin D intake was assessed by a 2-day food weighing method. Results: Median dietary intake of vitamin D was 4.1 μg/day, and the median concentrations of serum 25OHD and PTH were 7.7 and 49.9 pg/ml, respectively. In 76% of the patients, serum 25OHD level was lower than 10 ng/ml, indicating vitamin D deficiency. Vitamin D intake and serum 25OHD level were significantly lower in patients under enteral nutrition (EN) than those with oral intake (OI). Multivariate analyses revealed that EN was a significant predictor of decreased serum 25OHD level (β coefficient=−0.59, P =0.03). Conclusions: Vitamin D deficiency is highly prevalent in XP-A patients, and supplementation should be considered to avoid unfavorable skeletal consequences in these patients. In addition, determination of dietary vitamin D requirement has been a difficult work issue in the decision of dietary reference intakes (DRIs) because of its cutaneous production. Data from XP patients would yield useful information for the determination of DRIs for vitamin D.