Classic ataxia-telangiectasia: the phenotype of long-term survivors

被引:18
|
作者
van Os, Nienke J. H. [1 ,2 ]
van Deuren, Marcel [3 ]
Weemaes, Corry M. R. [4 ]
van Gaalen, Judith [2 ]
Hijdra, Helma [5 ]
Taylor, Alexander M. R. [6 ]
van de Warrenburg, Bart P. C. [2 ]
Willemsen, Michel A. A. P. [1 ]
机构
[1] Radboud Univ Nijmegen, Radboudumc Amalia Childrens Hosp, Donders Inst Brain Cognit & Behav, Dept Pediat Neurol,Med Ctr, Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands
[3] Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Internal Med, Med Ctr, Nijmegen, Netherlands
[4] Radboud Univ Nijmegen, Radboudumc Amalia Childrens Hosp, Dept Pediat Pediat Infect Dis & Immunol, Med Ctr, Nijmegen, Netherlands
[5] Radboud Univ Nijmegen, Dept Rehabil Med, Med Ctr, Nijmegen, Netherlands
[6] Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England
关键词
Ataxia-telangiectasia; Louis-Bar syndrome; ATM gene; Long-survivors; Prognosis; KINASE-ACTIVITY; ABNORMALITIES; FAMILIES; PATIENT; HEALTH;
D O I
10.1007/s00415-019-09641-1
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective Patients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop a complex multisystem disorder with a largely unknown extent and severity, we aimed to comprehensively assess their full clinical picture. Methods Data from Dutch patients with classic A-T above the age of 30 years were retrospectively collected. In addition, we searched the literature for descriptions of classic A-T patients who survived beyond the age of 30 years. Results In the Dutch cohort, seven classic A-T patients survived beyond 30 years of age. Fourteen additional patients were retrieved by the literature search. Common problems in older patients with classic A-T were linked to ageing. Most patients had pulmonary, endocrine, cardiovascular, and gastro-intestinal problems. All patients had a tetraparesis with contractures. This led to immobilization and frequent hospital admissions. Most patients expressed the wish to no longer undergo intensive medical treatments, and waived follow-up programs. Conclusions Paucity of descriptions in the literature, and withdrawal from medical care complicate the acquisition of follow-up data on the natural history of long-term survivors. Irrespective of these limitations, we have obtained impression of the many problems that these patients face when surviving beyond 30 years of age. Awareness of these problems is needed to guide follow-up, counselling, and (palliative) care; decisions about life-prolonging treatments should be well considered.
引用
收藏
页码:830 / 837
页数:8
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