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- Title
Náhodný nález splenomegalie jako hlavní příznak vedoucí k diagnóze Niemann-Pickovy choroby typu B u dospělého pacienta.
- Authors
Ješina, Pavel; Kopecká, Alena
- Abstract
Niemann-Pick disease type B (NPB) is a rare inherited metabolic disease that has a very wide spectrum of symptoms with different ages of onset and severity. Accurate diagnosis is based on an enzymological and genetic examination. Currently, a specific treatment using enzyme replacement therapy with olipudase alfa is already available. In this article, we present an adult patient with a random finding of splenomegaly, in whom the diagnosis of NPB was subsequently confirmed.
- Subjects
NIEMANN-Pick diseases; ENZYME replacement therapy; GENETIC disorders; AGE of onset; SPHINGOMYELINASE; METABOLIC disorders
- Publication
Medicina Pro Praxi, 2023, Vol 20, Issue 2, p112
- ISSN
1214-8687
- Publication type
Article
- DOI
10.36290/med.2023.016