共济失调毛细血管扩张症的诊断考量
Diagnostic considerations in ataxia-telangiectasia.
作者信息
Jason J M, Gelfand E W
出版信息
Arch Dis Child. 1979 Sep;54(9):682-6. doi: 10.1136/adc.54.9.682.
Abstract
13 children with ataxia-telangiectasia were followed for 6 years. Unlike previously reported cases, these patients had progressive, debilitating neurological disease and slight pulmonary or infectious symptoms. Immunological dysfunction was variable and endocrinological defects were absent. Oculomotor findings, alpha-fetoprotein levels, and the incidence of chromosomal breakage were the most consistent parameters in the diagnosis of the condition. This disease should be considered in any patient with chronic ataxia, regardless of immunological findings or whether he has a history of infections.
摘要
对13例共济失调毛细血管扩张症患儿进行了6年的随访。与先前报道的病例不同，这些患者患有进行性、使人衰弱的神经疾病以及轻微的肺部或感染症状。免疫功能障碍各不相同，且无内分泌缺陷。眼球运动检查结果、甲胎蛋白水平和染色体断裂发生率是诊断该病最一致的参数。对于任何患有慢性共济失调的患者，无论其免疫检查结果如何或有无感染史，均应考虑本病。
相似文献
1
Diagnostic considerations in ataxia-telangiectasia.共济失调毛细血管扩张症的诊断考量
Arch Dis Child. 1979 Sep;54(9):682-6. doi: 10.1136/adc.54.9.682.
2
Consequences of the delayed diagnosis of ataxia-telangiectasia.共济失调毛细血管扩张症延迟诊断的后果。
Pediatrics. 1998 Jul;102(1 Pt 1):98-100. doi: 10.1542/peds.102.1.98.
3
Ataxia-telangiectasia or Louis-Bar syndrome.共济失调毛细血管扩张症或路易斯-巴尔综合征。
J Am Acad Dermatol. 1985 Apr;12(4):681-96. doi: 10.1016/s0190-9622(85)70094-1.
4
Cerebral white-matter changes suggesting leukodystrophy in ataxia telangiectasia.共济失调毛细血管扩张症中提示脑白质营养不良的脑白质改变。
J Child Neurol. 1994 Jan;9(1):31-5. doi: 10.1177/088307389400900106.
5
Ataxia-oculomotor apraxia syndrome.共济失调-动眼性失用综合征
J Child Neurol. 1995 Mar;10(2):118-22. doi: 10.1177/088307389501000210.
6
7
Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia?血清 IgM 水平升高是否必须纳入共济失调毛细血管扩张症患者的可能诊断标准？
Int J Immunopathol Pharmacol. 2014 Jul-Sep;27(3):421-7. doi: 10.1177/039463201402700312.
8
[Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia].[突尼斯南部24例共济失调毛细血管扩张症患者的临床、生物学及遗传学研究]
Rev Neurol (Paris). 2000 Jul;156(6-7):634-7.
9
[Ataxia telangiectasia: review of 13 new cases].[共济失调毛细血管扩张症：13例新病例回顾]
Rev Neurol. 1996 Jan;24(125):77-80.
10
Ataxia telangiectasia: report of two cases.共济失调毛细血管扩张症：两例报告。
J Microbiol Immunol Infect. 2001 Mar;34(1):71-5.
引用本文的文献
1
The natural history of ataxia-telangiectasia (A-T): A systematic review.共济失调毛细血管扩张症（A-T）的自然病史：系统评价。
PLoS One. 2022 Mar 15;17(3):e0264177. doi: 10.1371/journal.pone.0264177. eCollection 2022.
2
Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia.患有共济失调毛细血管扩张症高IgM变异型的儿童血管炎
Front Pediatr. 2019 Oct 24;7:390. doi: 10.3389/fped.2019.00390. eCollection 2019.
3
Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.中文家族性非典型性共济失调毛细血管扩张症的临床诊断与遗传咨询。
Mol Med Rep. 2019 May;19(5):3441-3448. doi: 10.3892/mmr.2019.9992. Epub 2019 Feb 27.
4
A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas.一种与异常淋巴细胞增多、高 IgM 和皮肤肉芽肿相关的新型 ATM 突变。
Clin Immunol. 2019 Mar;200:55-63. doi: 10.1016/j.clim.2019.01.002. Epub 2019 Jan 9.
5
Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature.共济失调毛细血管扩张症综合征患者因腺癌导致胃出口梗阻：一例病例报告及文献复习
World J Surg Oncol. 2009 Mar 12;7:29. doi: 10.1186/1477-7819-7-29.
6
Variant of ataxia-telangiectasia with low-level radiosensitivity.
Hum Genet. 1985;70(3):274-7. doi: 10.1007/BF00273456.
本文引用的文献
1
IMMUNOLOGIC INCOMPETENCE IN ATAXIA-TELANGIECTASIA.共济失调毛细血管扩张症中的免疫功能不全。
Am J Dis Child. 1965 Jul;110:69-75. doi: 10.1001/archpedi.1965.02090030075010.
2
IMMUNOLOGIC DEFICIENCY IN ATAXIA TELANGIECTASIA.共济失调毛细血管扩张症中的免疫缺陷
N Engl J Med. 1965 Jan 7;272:18-22. doi: 10.1056/NEJM196501072720104.
3
ATAXIA TELANGIECTASIS. A DYSGAMMAGLOBULINAEMIA WITH DEFICIENT GAMMA-1-A (BETA-2-A)-GLOBULIN.共济失调毛细血管扩张症。一种伴有γ-1-A（β-2-A）球蛋白缺乏的免疫球蛋白异常血症。
Lancet. 1964 May 30;1(7344):1193-5. doi: 10.1016/s0140-6736(64)91210-3.
4
ATAXIA-TELANGIECTASIA. ITS ASSOCIATION WITH A DEFECTIVE THYMUS, IMMUNOLOGICAL-DEFICIENCY DISEASE, AND MALIGNANCY.共济失调毛细血管扩张症。其与胸腺缺陷、免疫缺陷病及恶性肿瘤的关联。
Lancet. 1964 May 30;1(7344):1189-93. doi: 10.1016/s0140-6736(64)91209-7.
5
6
Endocrinological studies in ataxiatelangiectasia and other immunological deficiency diseases.共济失调毛细血管扩张症及其他免疫缺陷疾病的内分泌学研究
Clin Exp Immunol. 1970 Apr;6(4):587-95.
7
Pernicous anaemia, hypogammaglobulinaemia, and altered lymphocyte reactivity. A family study.恶性贫血、低丙种球蛋白血症及淋巴细胞反应性改变。一项家族研究。
Clin Exp Immunol. 1972 Jun;11(2):187-99.
8
Ataxia-telangiectasia.共济失调毛细血管扩张症
Medicine (Baltimore). 1972 Jul;51(4):281-314. doi: 10.1097/00005792-197207000-00002.
9
Immunoglobulin E in immunologic deficiency diseases. I. Relation of IgE and IgA to respiratory tract disease in isolated IgE deficiency, IgA deficiency, and ataxia telangiectasia.免疫缺陷疾病中的免疫球蛋白E。I. 孤立性IgE缺陷、IgA缺陷和共济失调毛细血管扩张症中IgE和IgA与呼吸道疾病的关系
J Clin Invest. 1972 Feb;51(2):326-30. doi: 10.1172/JCI106817.
10
Immunological studies in ataxia-telangiectasia.共济失调毛细血管扩张症的免疫学研究。
Clin Genet. 1974 Jan;5(1):40-5. doi: 10.1111/j.1399-0004.1974.tb01657.x.
Zotero 插件