Yüksek Mutlu, Ikincioğullari Aydan, Doğu Figen, Elhan Atilla, Yüksek Nazmiye, Reisli Ismail, Babacan Emel
Department of Pediatric Immunology, Ankara University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2010 Jul-Aug;52(4):372-7.
Primary immunodeficiencies (PIDs) are a relatively common occurrence in countries where consanguineous marriages are widespread. A principal factor leading to misdiagnosis and ensuing complications can be the lack of knowledge and proper evaluation. The aim of this study was to assess PID awareness and the identification of diagnostic criteria leading to correct diagnosis. Seven hundred eighty-six questionnaires with 71 items were distributed to physicians attending the 41st National Congress of Pediatrics (2005) and to pediatric residents of two university hospitals from different cities in Turkey. The 217 completed questionnaires revealed that family history (91.2%), consanguineous marriages (87.1%), infant deaths (70.0%), persistent thrush (90.3%), hospitalization for recurrent cellulitis (70.5%), chronic diarrhea due to giardiasis (62.2%), recurrent oral aphthous lesions (58.5%), telangiectasia (82.0%), failure to thrive (78.8%), absence of tonsil tissue (74.7%), oculocutaneous albinism (73.7%), and resistant sinusitis (71.0%) were cited among important indicators of PID. However, neonatal tetany (77.9%), liver abscess (61.3%) and poliomyelitis following oral polio vaccination (51.2%) were not considered as related to PID. Although white blood cell (WBC) and differential were chosen as the preferred initial tests, leukocytosis and lymphopenia were also not judged as related to PID. More comprehensive pre/postgraduate education in PID appears to be necessary for physicians in Turkey.
原发性免疫缺陷病(PIDs)在近亲婚姻普遍的国家较为常见。导致误诊及后续并发症的一个主要因素可能是知识缺乏和评估不当。本研究的目的是评估对PID的认知以及确定能导致正确诊断的诊断标准。向参加第41届全国儿科学大会(2005年)的医生以及来自土耳其不同城市的两家大学医院的儿科住院医师发放了786份包含71个项目的问卷。217份完成的问卷显示,家族史(91.2%)、近亲婚姻(87.1%)、婴儿死亡(70.0%)、持续性鹅口疮(90.3%)、因复发性蜂窝织炎住院(70.5%)、贾第虫病引起的慢性腹泻(62.2%)、复发性口腔阿弗他溃疡(58.5%)、毛细血管扩张(82.0%)、发育不良(78.8%)、扁桃体组织缺失(74.7%)、眼皮肤白化病(73.7%)和耐药性鼻窦炎(71.0%)被列为PID的重要指标。然而,新生儿手足搐搦(77.9%)、肝脓肿(61.3%)和口服脊髓灰质炎疫苗后的脊髓灰质炎(51.2%)未被认为与PID有关。尽管白细胞(WBC)计数及分类被选为首选的初始检查项目,但白细胞增多和淋巴细胞减少也未被判定与PID有关。对土耳其的医生而言,似乎有必要开展更全面的PID研究生前/后教育。