Tromboza Eğilimin Eşlik Ettiği Wolfram Sendromu

Abstract

Wolfram sendromu; diabetes mellitus, optik atrofiye diabetes insipitus ve işitme kaybının eklenmesiyle karakterize, otozomal resesif kalıtım gösteren bir hastalıktır. Wolfram sendromunda kanamaya eğilim bildirilmiş olmakla beraber tromboza yatkınlık ile ilgili bir bilgi mevcut değildir. Wolfram sendromu tanısıyla takipli tekrarlayan tromboz atakları olan iki kız kardeş sunulmuştur. Wolfram sendromu olan iki kız kardeş (13 ve 12 yaşlarında) her seferinde trombozla sonuçlanan venovenöz fistül açma girişimleri sonrası kliniğimize yönlendirilmişlerdi. Hastaların tromboza eğilim yönünden tetkikleri yapıldı. Anti-trombin III, protein C ve S, lipoprotein (a), lupus antikoagülanı, antikardiyolipin IgG ve IgM düzeyleri normal sınırlardaydı. Genetik incelemede faktör V Leiden 1691 G>A ve faktör II (protrombin) 20210 G>A her iki hastada da homozigot normal, MTHFR C677T ise her iki hastada da heterozigot idi. Yeterli heparinizasyon sağlandıktan sonra herhangi bir tromboz atağı gözlenmedi. Daha önce Wolfram sendromu ve tromboza eğilim birlikteliği bildirilmemiştir. Tromboza eğilim çoklu fenotipi olan bir genetik hastalık olan Wolfram sendromunun yeni bir bulgusu olabilir.

Keywords

• Kronik böbrek yetmezliği, Tromboz, Wolfram sendromu

Wolfram Syndrome Accompanied by Predisposition to Thrombosis

Abstract

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

Keywords

• Chronic renal failure, Thrombosis, Wolfram syndrome

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