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- Title
PATIENTS WITH GAUCHER DISEASE: RESULTS OF LONG FOLLOW UP.
- Authors
Orucov, Elvin; Canda, Ebru; Çoker, Mahmut
- Abstract
Gaucher's Disease (GD) is a lysosomal storage disorder characterized by beta-glucoserebrosidase enzyme deficiency. The most common findings are organomegaly, anemia, thrombocytopenia and bone involvement. We aimed to evaluate the clinical, laboratory findings, response to treatment of patients with GH during long follow up. A total of 42 patients were included in the study. Thirty-four patients were GH Type 1, 7 patients were Gaucher Type 2 and 1 patient was Type 3. The mean age of the patients was 25.5 years (8 months-65 years) and the mean age at diagnosis was 12 years (8 months-65 years). The most frequent complaints of the patients were abdominal distention and cytopenia. Anemia and thrombocytopenia were the most common findings. Splenomegaly was present in 33 patients (80%). Splenectomy detected in 6 patients. Eight (19%) patients had osteoporosis. Painful bone crises were observed in 5 patients (12%). Enzyme replacement therapy (ERT) was the first treatment option in patients with GH types 1 and 3. Six patients received substrate reduction therapy after ERT. Improvement of hematologic findings, organ volumes and bone findings were observed with ERT. Six patients died during the follow-up period. Hematological and visceral findings seen in GD can be observed in many diseases. For this reason, a diagnosis delay can be seen. Regular and, multidisciplinary follow-up is important for diagnosis of patients and for treatment. Early diagnosis and early treatment are important to reduce morbidity and mortality of disease.
- Subjects
GAUCHER'S disease treatment; GAUCHER'S disease diagnosis; SPLENECTOMY; THROMBOCYTOPENIA; FOLLOW-up studies (Medicine)
- Publication
Erciyes Medical Journal / Erciyes Tip Dergisi, 2018, Vol 40, Issue 1, pS23
- ISSN
2149-2247
- Publication type
Article