ALPHA-FŒTOPROTEINE PROGNOSIS VALUE IN PATIENTS MONITORING WITH ATAXIA-TELANGIECTASIA

Introduction: Serum alpha-fetoprotein (AFP) is used as a biomarker for the diagnosis of some hereditary diseases such as ataxia-telangiectasia (AT), that is an autosomal recessive neurodegenerative disease with early onset at childhood. Materials and methods: We reported a series of 16 patients followed in child Neurology department for AT, having benefited from a serum dosage of AFP in Immunology Laboratory using electrochemiluminescence technique on the Cobas e411 automaton (Roche®). Results : The study included 10 girls and 6 boys. The mean ages at onset symptoms and at diagnosis were 39 (10-96) and 67.5 months (10-144), respectively. Consanguinity and similar family cases were found in 81.25% and 68.75%. A history of repeated infections was noted in 6 patients (37.5%). Considering the whole population study, AFP level ranged from 99.5 to 656.3 ng/ml. In patients who had regular monitoring, AFP kinetics in relation to time showed pattern of a straight curve with a guiding coefficient between 0.76 and 3. The level of AFP was correlated with the age of the patients at onset with higher level in patients with a younger age at onset. Faster growth in AFP levels was associated with a worse functional prognosis and earlier loss of autonomy. Discussion and conclusion: Serum AFP level is of diagnostic interest in ataxia-telangiectasia. A frank elevation of this marker, in front of an evocative clinical picture, confirms the diagnosis. Faster growth in AFP levels was associated with worse functional prognosis. Further study with large population is necessary to confirm these data.