[Lysosomal storage diseases].
Lysosomal storage diseases are a heterogeneous group of disorders caused by lysosomal enzyme dysfunction. Individually they are very rare, but this group as a whole has a prevalence of more than 1:8,000 live births. While severe phenotypes are easily diagnosed this can be a real challenge with attenuated forms. Because musculoskeletal complaints are frequently the first reason for the patient to seek medical advice, the rheumatologist plays a key role for the early recognition of these diseases. Since several of these can be treated very effectively by enzyme replacement, a timely diagnosis and start of therapy are essential to avoid irreversible organ damage and poor quality of life. Therefore, each clinical rheumatologist should be aware of the cardinal symptoms of lysosomal storage diseases.
Manger
B
B
Medizinische Klinik 3, Klinikum der Friedrich-Alexander-Universität Erlangen, Krankenhausstr 12, 91054 Erlangen. bernhard.manger@uk-erlangen.de
D000293:Adolescent; D000328:Adult; D002648:Child; D003299:Cooperative Behavior; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D033183:Interdisciplinary Communication; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D009081:Mucolipidoses / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D010641:Phenotype; D035583:Rare Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D013106:Sphingolipidoses / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D055815:Young Adult