Türkiye'nin Batı Akdeniz Bölgesindeki Hemodiyaliz Hastalarında Fabry Hastalığı Sıklığı

Abstract

Amaç: Bu çalışmanın amacı, Batı Akdeniz bölgesinde hemodiyaliz uygulanan ancak böbrek yetmezliği etiyolojisi bilinmeyen veya başka nedenlere bağlanan hastaları belirlemek ve bu hastalardaki Fabry mutasyonunun prevalansını saptamaktır. Ayrıca çalışmamızda mutasyon saptanan olguların aile bireylerinde de tarama yapmayı amaçladık. Yöntemler: Türkiye'de Batı Akdeniz bölgesinde 11 farklı hemodiyaliz merkezinde hemodiyaliz tedavisi gören 18 yaş üstü 664 hasta tarandı. Erkek hastalarda ilk olarak Alfa-galaktosidaz A enzim seviyeleri test edildi ve alfa-galaktosidaz A seviyeleri < 3,3 nmol/mL/saat olan hastalarda GLA gen dizi analizi yapıldı. Kadınlarda ise GLA gen dizi analizi doğrudan yapıldı. Bulgular: Toplam 664 hasta [313 (%47.1) erkek ve 351 (%52.9) kadın] tarandı. Fabry mutasyonu sekiz kadın hastada ve bir erkek hastada pozitifti. Sonuç: Araştırmamızda hemodiyaliz tedavisi alan hastalarda Fabry hastalığı prevalansı %1,35 olarak belirlendi. Fabry hastalığının etiyolojisinde etkili olan mutasyonların yalancı alel olup olmadığı konusundaki çelişkileri ortadan kaldırmak için yeni araştırmaların yapılması, daha geniş hasta popülasyonunda prospektif tarama programlarının yapılması, genetik danışmanlık ve koruyucu hekimlik hizmetlerinin yaygınlaştırılması gerekmektedir.

Keywords

• Fabry hastalığı
• Kronik böbrek hastalığı
• Hemodiyaliz

The Frequency of Fabry Disease in Hemodialysis Patients in The Western Mediterranean Region of Turkey

Abstract

Aims: The aim of the present study was to identify patients with chronic kidney disease of unknown etiology or of other detected etiology among those who were undergoing hemodialysis in the Western Mediterranean region and to detect the prevalence of Fabry mutation in these patients. In addition, we aimed to screen the family members of the cases with mutations in our study. Methods: A total of 664 patients over the age of 18 who received hemodialysis treatment in 11 different hemodialysis centers in the Western Mediterranean region of Turkey were screened. Alpha-galactosidase A enzyme levels were first tested in male patients, and for patients with alpha-galactosidase A levels < 3.3 nmol/mL/h, GLA gene sequence analysis was performed. GLA gene sequence analysis was performed directly in female patients. Results: In total 664 patients [313 (47.1%) male and 351 (52.9%) female] have been scanned. Fabry mutation was positive in eight female patients and one male patient. Conclusion: According to the output of the research, the prevalence of Fabry disease among the patients who receive hemodialysis treatment determined 1.35%. In order to eliminate the conflicts upon whether the mutations which is effective on the etiology of Fabry disease are pseudo alleles it is required that new researches should be done, prospective scanning programs in a wider patient population and genetic consultancy and preventive medicine services should become more prevalent.

Keywords

• Fabry disease
• Chronic kidney disease
• Hemodialysis

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