Hypovitaminosis D: a novel finding in primary ciliary dyskinesia
نویسندگان
چکیده
BACKGROUND A relationship between low levels of serum vitamin D and respiratory infections has been established. No study has examined the frequency and clinical relevance of vitamin D deficiency in patients with primary ciliary dyskinesia (PCD). METHODS Vitamin D levels were measured in 22 PCD patients (7 females, 10.5 years, range, 2-34 years). In PCD, pulmonary function tests (PFTs), sputum microbiology, self-reported physical activity (PA) level, and quality of life (QoL) by means of the Saint George's Respiratory Questionnaire (SGRQ), were also assessed. RESULTS Seventy-two percent of PCD patients were vitamin-D deficient-to-insufficient and 28% were sufficient. No differences in PFTs parameters were found between vitamin D deficiency-to-insufficiency and sufficiency groups. Patients with vitamin D deficiency-to-insufficiency had significantly higher SGRQ total scores, and thus poorer QoL (p = 0.03). Seventy-nine percent of PCD subjects had limitations in performing vigorous activities, and 53% performed less than 3 hours of PA per week. Vitamin D deficiency-to-insufficiency and sufficiency groups did not show any differences in age at PCD diagnosis or at onset of respiratory symptoms, BMI, atopy, current asthma or bronchiectasis. However, 79% of patients with bronchiectasis had vitamin D deficiency-to-insufficiency. No differences were found in the rate of positive sputum cultures and in the number of antibiotic courses between the two groups. CONCLUSIONS Hypovitaminosis D is common in PCD patients, and is associated with poorer QoL. We recommend the assessment and treatment of hypovitaminosis D to be included in the routine management of PCD.
منابع مشابه
گزارش دو مورد اختلال حرکت اولیه مژک ها (گزارش مورد)
Primary ciliary dyskinesia and Kartagener's syndrome are rare genetic disorders. There is a ciliary dysfunction in these disorders that cause recurrent infections in respiratory and sinus tracts associated with dextrocardia, chronic vasomotor rhinitis and dextrocardia. The aim of this paper is to report two rare cases of Primary ciliary dyskinesia, including one case of primary ciliary dyskin...
متن کاملGenetic etiology of Asthenozoospermia: A review
Background: Asthenozoospermia, as the most prevalent cause of male infertility, is defined as low percentage of progressively motile spermatozoa per ejaculate. It occurs in both non-syndromic and syndromic forms and later it manifests as a part of primary ciliary dyskinesia. In the last decade, with the advent of Next-generation sequencing technologies numerous genes have been introduced in the...
متن کاملNonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder characterized by impaired ciliary function that leads to subsequent clinical phenotypes such as chronic sinopulmonary disease. PCD is also a genetically heterogeneous disorder with many single gene mutations leading to similar clinical phenotypes. Here, we present a novel PCD causal gene, coiled-coil domain containing 151 (CCDC...
متن کاملExhaled nitric oxide in contrasting population samples of Finnish and Russian Karelia.
1 Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007; 92: 1136–1140. 2 Lie H, Ferkol T. Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment. Drugs 2007; 67: 1883–1892. 3 Pifferi M, Cangiotti AM, Ragazzo V, et al. Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evalua...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 41 شماره
صفحات -
تاریخ انتشار 2015