Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase leading to tissue accumulation of glycosaminoglycans. It manifests with short stature, joint stiffness, coarse facial features, hepatosplenomegaly, and progressive mental retardation. Most children die in the first or second decade from pulmonary or cardiac involvement. Until recently, no specific treatment was available. A Phase II/III trial of idursulfase, a recombinant enzyme replacement therapy for this disorder, demonstrated significant improvement in a 6-min walk test and in pulmonary function tests, and a decrease in liver and spleen size among those receiving active therapy once weekly. Major side effects include allergic reactions, which generally are easily managed and do not require discontinuing therapy. Idursulfase is now approved in the US, and should provide significant improvement in quality of life for these individuals. This article reviews the disease and treatment, with comments on future therapeutic directions.
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PMID:Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome). 3074 45

Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III. Method Thirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system. Results Among the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations. Conclusion When language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.
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PMID:Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients. 3244 33


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