Prevalence of the sphingolipid storage diseases M. Gaucher and M. Niemann-Pick type B: results in a nation-wide screening project in 224 patients
S vom Dahl, D Santosa, M Donner, M Merkel, J Vossbeck, E Mengel, D Häussinger · Zeitschrift für Gastroenterologie · 2015 · Heft 12
Bibliografische Angaben
Zusammenfassung
Background: M Gaucher (GD) and Niemann-Pick disease type B (NP-B) are monogenic autosomal-recessive storage diseases. They are caused by reduced activities of lysosomal β-glucocerebrosidase (GBA1 in GD) or acidic sphingomyelinase (ASM in NP-B). Gaucher leads to hepatosplenomegaly, osseous complications and a reduced life expectancy. The frequency of hepatocellular carcinoma is high in GD. Niemann-Pick disease type B leads to hepatosplenomegaly, pancytopenia and a prognostically poor emphysema, some of the patients develop liver cirrhosis. In Germany, between the actual number identified in these patients (respec…
