Moin Mostafa, Aghamohammadi Asghar, Kouhi Ali, Tavassoli Sanaz, Rezaei Nima, Ghaffari Saeed-Reza, Gharagozlou Mohammad, Movahedi Masoud, Purpak Zahra, Mirsaeid Ghazi Bahram, Mahmoudi Maryam, Farhoudi Abolhasan
Department of Allergy and Clinical Immunology, Children's Medical Center, and Immunology, Asthma and Allergy Research Institute, Tehran, Iran.
Pediatr Neurol. 2007 Jul;37(1):21-8. doi: 10.1016/j.pediatrneurol.2007.03.002.
Ataxia-telangiectasia is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, x-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. To evaluate clinical and immunologic features of Iranian patients with ataxia-telangiectasia, the records of 104 patients with ataxia-telangiectasia (54 male, 50 female) with the age range of 1.6-23.5 years were reviewed. The Iranian Primary Immunodeficiency Registry was used as the data source. Progressive ataxia was seen in all the patients. Other symptoms were eye movement disorders (n = 84), slurred speech (n = 70), mental retardation (n = 10), and ocular (n = 87) and cutaneous (n = 73) telangiectasia. Three patients developed leukemia and lymphoma, and 17 patients had family history of malignancy. Positive correlation was seen between clinical immunologic symptoms and immunoglobulin deficiencies (P = 0.004). The predominant infections were sinopulmonary and acute and recurrent infections (78 cases). Infections included pneumonia (56 patients), otitis media (34 patients), and sinusitis (50 patients). Average serum alpha-fetoprotein level was 149 +/- 137 ng/dL. The incidence of ataxia-telangiectasia in Iran is high, possibly due to familial marriages. Treatment should be focused on supportive management to prolong survival.
共济失调毛细血管扩张症是一种多系统疾病，其特征为进行性神经功能损害、可变的免疫缺陷、器官成熟受损、X线超敏反应、眼皮肤毛细血管扩张以及易患恶性肿瘤。为评估伊朗共济失调毛细血管扩张症患者的临床和免疫学特征，回顾了104例年龄在1.6至23.5岁之间的共济失调毛细血管扩张症患者（54例男性，50例女性）的记录。伊朗原发性免疫缺陷登记处用作数据源。所有患者均出现进行性共济失调。其他症状包括眼球运动障碍（n = 84）、言语不清（n = 70）、智力迟钝（n = 10）以及眼部（n = 87）和皮肤（n = 73）毛细血管扩张。3例患者发生白血病和淋巴瘤，17例患者有恶性肿瘤家族史。临床免疫症状与免疫球蛋白缺乏之间存在正相关（P = 0.004）。主要感染为鼻窦肺部感染以及急性和复发性感染（78例）。感染包括肺炎（56例患者）、中耳炎（34例患者）和鼻窦炎（50例患者）。血清甲胎蛋白平均水平为149 +/- 137 ng/dL。伊朗共济失调毛细血管扩张症的发病率较高，可能归因于近亲结婚。治疗应侧重于支持性管理以延长生存期。
