Ataxia telangiectasia in Turkey:multisystem involvement of 91 patients

作     者：Hacer Akturk Murat Sutcu Ayper Somer Sanem Piskin Manolya Acar Meral Ozmen Umut Altinoglu Burak Tatli Nuran Salman 

作者机构：Department of Pediatric Infectious Diseases and Clinical Immunologylstanbul Medical Facultylstanbul University Department of Pediatric Neurologylstanbul Medical Facultylstanbul University Department of Medical Geneticslstanbul Medical Facultylstanbul University 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2017年第13卷第5期

页      面：465-471页

核心收录：

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：Istanbul Medical Faculty 

主　　题：ataxia telangiectasia immunodeficiency malignancies neurological impairment 

摘      要：Background:Ataxia telangiectasia (AT) is a genetically based multisystemic *** aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 ***:Medical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed ***:Forty six female and 45 male patients with a mean follow-up period of 39.13±4.28 months were *** mean age at the time of symptom onset and diagnosis were 15.4±1.09 months and 73.6144.11 months,*** abnormalities were progressive truncal ataxia,nystagmus,dysarthria,oculomotor apraxia and *** one patients (34.1%) became dependent on wheelchair at a mean age of 12.1±2.8 *** patients (12.1%) became bedridden by a mean age of 14.7±1.8 *** magnetic resonance imaging revealed pathological findings in 47/66 *** immunological parameters were determined in 51/91 patients:immunoglobulin (Ig)A deficiency (n=38),lymphopenia (n=30),IgG (n=15) and IgG2 (n=11) *** of recurrent sinopulmonary infections (n=45) and bronchiectasis (n=22) were found to be more common in patients with impaired immunological parameters (P=0.029and P=0.023,respectively).Malignancy developed in 5 patients,being mostly lymphoreticular in origin and resulted in death of 4 ***:AT is a long lasting disease with muitisystem involvement necessitating multidisciplinary follow up,as described in our *** diagnosis of malignancy and supportive treatments regarding pulmonary and neurological health may prolong survival and increase the quality of life.