engleski

Enzyme replacement therapy (ERT) in two patients with MPS VI

MPS VI is a rare autosomal recessive lysosomal storage disease due to the arylsulphatase B deficiency. The treatment is now available by replacement of the lacking enzyme (ERT). We present the 18 month follow-up of two affected sibs on arylsulphatase B (Naglazyme) ERT. At the beginning of the therapy the brother M.C. (17) had cardiomyopathy with mitral and tricuspidal regurgitation, asthma with low saturation levels of 89-92%O2, and his stamina was 126 meters measured in the 6/12 minutes walk test (6/12MWT) and 31 stairs measured in the 3 minutes stair climb test (3MSC). His sister V.C. (16) had no signs of pulmonary or cardiac disease, her stamina was 357/735 meters on the 6/12MWT and 117 stairs in the 3MSC. They both had increased liver size, measuring 11 to 12 cm in the midclavicular line, and 4-fold increase in urinary glycosaminoglycans (GAG) levels. After 12 months of treatment, the girl showed marked increase in stamina to 416/864 meters and 131 stairs, increased range of motion (ROM) in 7 joints, a decrease in liver size to 11 cm and a decrease in spleen size to normal. The boy showed significant improvement in the first 12 months with increase of oxygen saturation levels to 95- 98%O2, ROM in 6 joints and stamina to 150.5/252 meters and 56 stairs. However, cardiomyopathy soon progressed rapidly with signs of cardiac failure, decrease in saturation, difficulty in breathing, fatigue and loss of mobility. The condition subsequently significantly improved after the introduction of the adequate cardiac therapy. Conclusion: After 6-month of treatment ERT considerably improved stamina and ROM in our two patients with advanced form of MPS VI disease. Liver and spleen size was also reduced. Urinary GAG levels returned to normal. ERT was in general well tolerated and without serious side effects.

MPS VI

nije evidentirano