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
• nadir hastalıklar
• lizozomal depo hastalığı
• gaucher hastalığı
• glukoserebrosidaz