Özet:

Wolfram syndrome is a genetic condition, which is inherited in autosomal recessive form and characterized by the combination of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. Bleeding tendency in Wolfram syndrome was noted but a predisposition to thrombosis has not been reported previously. We present two siblings with Wolfram syndrome and recurrent thrombosis. Two girls (13 and 12 years old) with Wolfram syndrome were referred to our clinic because of recurrent thrombotic attacks after each attempt to open venovenous fi stulas. Tests were performed to determine the patients’ predisposition to thrombosis. Anti-thrombin III, protein C and S, lipoprotein (a), lupus anticoagulant, anticardiolipin IgG and IgM were within the normal range. Genetic analysis showed that factor V Leiden 1691 G>A and factor II (prothrombin) 20210 G>A were homozygous normal and MTHFR C677T gene mutation was heterozygous for each patient. No thrombosis attack was observed after adequate heparinization. Predisposition to thrombosis is a newly feature in Wolfram syndrome, as thrombosis with this syndrome has never been reported

Anahtar Kelimeler: