Gaucher Disease Type 1, A Rare Disease: A Single Center-Experience

Abstract

Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to be very effective in reversing the risk of hepato-splenomegaly, cytopenia, osteopenia and reducing the risk of avasculer osteo necrosis, especially in children and young adults. The aim of this study is to draw attention to this rare disease and increase awareness. Material and Methods: All medical records of 8 patients diagnosed with Gaucher disease between 2008 and 2020 in our clinic were reviewed. Result: Five of the cases were female (62.5%), average age at diagnosis; was 7.9 years. When complaints at the time of admission are examined, we found that, 3 patients admitted with swelling in the abdomen, one admitted with abdominal pain, and 4 patients had been referred to our center due to organomegaly detected during the examination. In physical examination 8 patient had splenomegaly. The mean level of glucocerebrosidase enzyme of the patients was found to be 0.61mmol/l/h (normal range of glucocerebrosidase >3.2mmol/l/h). Considering the genetic analysis of the patients, 5 patients had homozygous and 3 patients had heterozygous mutations. One patient with portal hypertension who did not respond to enzyme replacement therapy at the time of admission underwent liver transplant. Conclusion: Early diagnosis and treatment are important to live with in mind that this disease, which is rare in societies where consanguineous marriage is common and can result in serious morbidity and early death, can be seen more frequently.

Keywords

• Rare diseases
• Lysosomal storage disease
• Gaucher disease
• Glucocerebrosidase

Gaucher Hastalığı Tip 1, Nadir Bir Hastalık: Tek Merkez Deneyimi

Abstract

Amaç: Gaucher hastalığı, nadir görülen bir lizozomal depo hastalığıdır. Enzim replasman tedavisinin özellikle çocuklarda ve genç yetişkinlerde hepato-splenomegali, sitopeni, osteopeni riskini tersine çevirmede ve avaskular osteo nekroz riskini azaltmada çok etkili olduğu kanıtlanmıştır. Bu çalışmanın amacı, nadir görülen bu hastalığa dikkat çekmek ve farkındalığı artırmaktır. Gereç-yöntem: Kliniğimizde 2008-2020 yılları arasında Gaucher hastalığı tanısı alan 8 hastanın tüm tıbbi kayıtları gözden geçirildi. Bulgular: Olguların beşi kadın (% 62,5), ortalama tanı yaşı; 7,9 yıldı. Başvuru anındaki şikayetler incelendiğinde; 3 hastanın karın bölgesinde şişlik ile başvurduğu, birinin karın ağrısı ile başvurduğu ve 4 hastanın muayene sırasında tespit edilen organomegali nedeniyle merkezimize sevk edildiği tespit edildi. Fizik muayenede 8 hastada splenomegali vardı. Hastaların ortalama glukoserebrosidaz enzim düzeyi 0.61 mmol / l / saat (normal glukoserebrosidaz aralığı> 3.2 mmol / l / saat) olarak bulundu. Hastaların genetik analizine bakıldığında 5 hastada homozigot, 3 hastada heterozigot mutasyon vardı. Başvuru sırasında enzim replasman tedavisine yanıt vermeyen portal hipertansiyonlu bir hastaya karaciğer nakli yapıldı. Sonuç: Ciddi morbidite ve erken ölümle bile sonuçlanabilen ve akraba evliliğinin sık olduğu toplumlarda nadir görülen bu hastalığın daha sık görülebileceği akla getirmek hastaların yaşam kalitesini arttırmak için erken tanı ve tedavi önem arz etmektedir.

Keywords

• Nadir hastalıklar
• Lizozomal depo hastalığı
• Gaucher hastalığı
• Glukoserebrosidaz

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