Type and clinical presentation of lysosomal storage diseases in Srinagarind Hospital
Keywords:
lysosomal storage disease, Gaucher disease, mucopolysaccharidosesAbstract
BACKGROUND : The lysosomal storage diseases (LSDs) have a wide range of clinical presentation in several systems. The diseases are difficult and required advanced laboratory testing to make a definite diagnosis.
OBJECTIVES : To determine types, frequency, and clinical manifestations of LSDs in Srinagarind Hospital.
METHODS : A 20-year retrospective descriptive study in LSDs patients in Srinagarind Hospital.
RESULTS : There were 27 patients diagnosed with LSDs, 15 males (56%) and 12 females (44%). Gaucher disease was the most common in our study (33%) followed by the mucopolysaccharidosis (MPS) II. All patients with Gaucher disease had hepatosplenomegaly and most of them were referred from pediatric hematologists. Most MPS patients were presented with musculoskeletal problems and consulted by orthopedists. Five patients have received the enzyme replacement therapy (ERT) including 4 patients with Gaucher disease and 1 patient with late-onset Pompe disease. Those with Gaucher disease had significant
improvement in growths, hemoglobin levels, and platelet counts after the ERT. The patient with late-onset Pompe disease had improvement in muscle power and respiratory function after the ERT.
CONCLUSION : Gaucher disease is the most common LSDs followed by MPS II in the study. Raising awareness of these diseases to medical specialists will makes an improvement in early diagnosis. There are good outcomes on the ERT in Gaucher disease and late-onset Pompe disease in Thailand.
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