Fabry Hastalığı: Derleme

Öz

Kronik böbrek hastalığı etiyolojisinde diyabetes mellitus ve hipertansiyon başta olmak üzere birçok neden vardır. Etiyolojide yer alan nadir görülen nedenlerden biri de Fabry hastalığıdır. Fabry hastalığı farkındalığı düşük olması, nadir görülmesi ve çeşitli klinik varyantları olması nedeniyle sıklıkla tanıda gözden kaçmaktadır. Hastalık X’e bağlı resesif geçtiği için geni taşıyan tüm erkekler etkilenir. Kadınlarda iyonizasyon olması nedeniyle kadınların hastalıktan etkilenmesi mozaizm gösterir. Fabry hastalığı tespitinde enzim aktivitesi, gen analiz değerlendirilmesi ve biriken metabolitlerin kanda veya dokularda ölçümü kullanılır. Tedavisinde enzim replasman tedavisi ve destek tedavi uygulanır. Hastalığın kliniğe yansıması farklı olduğundan klinisyen tanıyı gözden kaçırmamak için dikkatli olmalıdır

Anahtar Kelimeler

• Fabry hastalığı, Alfa-Galaktozidaz A, GLA gen mutasyonu

Fabry Disease: A Review

Abstract

The etiology of chronic kidney disease is multifactorial but diabetes mellitus and hypertension are the main factors. One of the rare causes is Fabry disease. Fabry disease is often overlooked in the diagnosis due to the low awareness of the disease, its rare occurrence, and the various clinical variants. The disease has X-related recessive inheritance and all men who carry the diseased X gene are therefore affected. The disease exhibits mosaicism in women due to the ionization in females. Fabry disease is detected by enzyme activity, gene analysis evaluation, and the measurement of accumulated metabolites in the blood or tissue. Enzyme replacement therapy and supportive therapy are used for the treatment. The clinician must be alert to not miss the disorder as it can have various manifestations

Keywords

• Fabry disease, Alpha-Galactosidase A, GLA gene mutation

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