Gaucher sygdom
Gauchers er en arveling lysosomal sygdom forårsaget af en patogen variant af det gen, der er ansvarlig for at producere enzymet syre-β-glucosidase. Mere end 300 alleler med patogene varianter er allerede blevet identificeret.1
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Genkendelse af Gauchers sygdom
Splenomegali er et af de mest almindelige symptomer på Gauchers sygdom type 1 og kan ofte være det første fund, der opdages hos små børn.2 Disse patienter kan dog også udvikle skeletsygdomme, hvilket muligvis kan føre til generaliseret osteoporose kompliceret af hyppige patologiske frakturer. Skeletabnormaliteter er også meget almindelige hos voksne patienter, der udvikler knoglekomplikationer.2 Gauchers sygdom forekommer med varierende sværhedsgrad med forskellige symptomer.
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Understanding Gaucher Disease: Symptoms, Classification, and Clinical Presentation
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Diagnostic and confirmation testing
Gaucher disease is rare and has signs and symptoms that can be confused with those of many other diseases. However, some tests allow the definitive diagnosis of the disease.
Gaucher disease in children
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the GBA1 gene, resulting in deficient activity of the enzyme acid β glucosidase.
Understanding Gaucher Disease: Symptoms, Classification, and Clinical Presentation
Gaucher disease is a lysosomal storage disorder caused by a pathogenic variant in the gene responsible for producing the enzyme acid β-glucosidase. More than 300 alleles carrying pathogenic variants have already been identified.1
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1. Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin Adv Hematol Oncol. 2012;10:1-16.
2. Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Bailleres Clin Haematol 1997;10(4):657-689.
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