Gaucher's disease in Albanian children: casuistics and treatment

ABSTRACT

Gaucher's disease is a rare genetic disorder that results in the accumulation of cerebrosides in the liver, spleen, kidneys, lungs, brain and bone marrow. The deficiency of the specific lysosomal enzyme glucocerebrosidase is considered as causative factor. The first effective treatment for the disease, the drug Ceredase, approved in 1995, was replaced in 2001 by the drug Cerezyme. During the period 2004-2009 in our service 11 children were hospitalized and treated for Gaucher's disease 9 children with type 1, and 2 children with type 3 of the disease. The enzymatic examinations of the biomarker chitotriosidase were performed in Sahlgren's University Hospital, Molndal Sweden; the DNA analysis was performed in the Children's Hospital and Regional Medical Center, Seattle, USA. We are presenting the biological and genetic molecular data of the children. In our case series, one year after the treatment started, the hemoglobin level was normalized; the platelet count was normalized in 7 patients after one year of treatment, and in 9 patients after two years of treatment. The hemorrhagic syndrome stopped after 6 months of treatment. Chitotriosidase values decreased 10-20 times the initial value, after one year of treatment and in one case the value reached the normal range. The treatment with Cerezyme has also improved the visceral and biological signs. Anomalies of the oculomotricity were less sensitive to the treatment. According to our experience, Chitotriosidase is a sensitive and specific marker in diagnosing and monitoring Gaucher's disease. The enzyme replacement therapy through Cerezyme is an effective and safe treatment of Gaucher's disease. Blood signs [anemia, platelet count]; visceral signs [splenomegaly, hepatomegaly] as well as bone involvement showed decisive improvement under the therapy