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- Title
Ataksi telanjiektazi ve ikincil hastalıklar.
- Authors
Patiroğlu, Türkan; Güngör, Hatice Eke; Baz, Hüseyin; Ünal, Ekrem
- Abstract
Aim: Ataxia telangiectasia is a rare autosomal recessive neurodegenerative disorder. In this retrospective study, it was aimed to evaluate immunological abnormalities and secondary diseases during the course of the patients with AT. Material and Method: Twenty patients diagnosed as ataxia telangiectasia were retrospectively evaluated in this study. The initial complaints, age at diagnosis, consanguinity of the parents, similar disease history or death of the siblings, the distribution of lymphocyte subset, level of immunoglobulin and the results of thorax tomography, pathological examination, thyroid hormone and auto-antibody related to the secondary disease, clinical courses were analyzed. Results: The most frequent complaint at admission was unstable gait and repeated sinopulmonary infections. The most common findings were low immunoglobulin A levels and low number of T helper lymphocytes. Three of the patients developed bronchiectasis and two of the patients developed Hashimoto's thyroiditis, whereas two patients who suffered from Hodgkin's lymphoma died due to infections subsequently. Conclusions: Several secondary clinical situations may be associated with ataxia telangiectasia. Clinical suspicion of this entity allows an early diagnosis and treatment of complications. Genetic counseling is crucial in the prevention of this disease which has no definitive treatment primarily in communities with a high prevalence of consanguineous marriages.
- Subjects
ATAXIA telangiectasia; AUTOANTIBODIES; IMMUNOGLOBULINS; TOMOGRAPHY; RETROSPECTIVE studies; LYMPHOCYTE count; DISEASE complications
- Publication
Türk Pediatri Arşivi, 2012, Vol 47, Issue 1, p38
- ISSN
1306-0015
- Publication type
Article
- DOI
10.4274/tpa.594