Clinical and Diagnostic Findings of 19 Gaucher Patients in Albania
|V Velmishi1*, D Bali2, E Dervishi1, V. Durro3 and P Cullufi1|
|1Pediatric Gastrohepatology Service, UHC “Mother Teresa”, Tirana, Albania|
|2Pediatric Hematology Service, UHC “Mother Teresa”, Tirana, Albania|
|3Hospital Planning Directory, Ministry of Health, Tirana, Albania|
|Corresponding Author :||Velmishi V
Pediatric Gastrohepatology Service
UHC “Mother Teresa”, Tirana, Albania
E-mail: [email protected]
|Received April 10, 2013; Accepted July 23, 2013; Published July 29, 2013|
|Citation: Velmishi V, Bali D, Dervishi E, Durro V, Cullufi P (2013) Clinical and Diagnostic Findings of 19 Gaucher Patients in Albania. J Liver 2:122. doi:10.4172/2167-0889.1000122|
|Copyright: © 2013 Velmishi V, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.|
Aim: Gaucher disease is a multisystemic disorder characterized by glucocerebrosidase enzyme deficiency. The aim of this study was to present clinical aspects and diagnostic data of 19 patients (17 type 1, 2 type 3) in our service.
Methods: Clinical findings, genetic analysis, laboratory work up, liver and spleen volumes were analyzed for 19 patients.
Results: Mean age was 17 years (5-32 years); mean age at diagnosis was 11, 4 years (5-31 years). Most common presenting symptom was splenomegaly (all patients). Most frequent mutation was heterozygous N370S. One patient had severe anemia before the treatment. 16 patients had thrombocytopenia. All patients had high level of chitotriosidase before the treatment (240 times higher than normal value).
Conclusion: There is a large variety of clinical signs in Gaucher disease. In our experience a proper investigation of patient followed by further expensive examinations is the cornerstone of diagnostic.