LAUSR

A-T is a rare autosomal recessive disorder characterised by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. The prevalence of A-T pts is estimated to be 1:150 000. A-T has a broad spectrum of other serious clinical symptoms: recurrent infections of respiratory tract, chronic lung diseases, granulomatous infiltrations, autoimmune diseases and lymphomas. The main causes of premature death are respiratory disorders and cancer. The aim was to asses clinical and immunological status of A-T pts. Materials and Methods: We analyzed retrospective clinical data collected from 60 pts with A-T. Results: All pts met diagnostic criteria, in 33 of them mutation was confirmed. Out of 60 pts (F/M, 25/35), 43 were alive at the end of 2015. Median age was 14.1 yrs (1.9 - 31.9 yrs). The onset of ataxia - median age 1.4 yrs (0.8 - 6.0 yrs). The onset of telangiectasia - median age 5.0 yrs (1.0 - 14.0 yrs). Pts were qualified into four groups: I - pts with sporadic infections (n=27), II - pts with recurrent infections without complications (n=10), III - pts with recurrent bronchitis and sporadic pneumonia (n=9), IV - pts with chronic bronchitis and bronchiectasis (n=14). Predisposition to respiratory infections correlated with immunoglobulin deficiency. 23 pts were given immunoglobulin replacement (gr I - 1, gr II - 3, gr III - 6, gr IV - 13). Median age of death was F/18.0 yrs, M/20.0 yrs. The main cause were pulmonary complications (11 pts out of 17). Conclusions: High incidence of respiratory tract infections was the main complication in our A-T patients. Early diagnosis (taking into consideration their radiosensitivity) and appropriate treatment can prolong life span.