Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis
| Autor: | L.-R. Sharpe, Persis Amrolia, Kimberly Gilmour, Ashok Vellodi, P. Ancliff |
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| Rok vydání: | 2009 |
| Předmět: |
Pathology
medicine.medical_specialty Gaucher Disease Fatal outcome business.industry Intracellular protein Infant Membrane Proteins Disease medicine.disease Lymphohistiocytosis Hemophagocytic Diagnosis Differential Fatal Outcome Membrane protein Macrophage activation syndrome Immunology Genetics medicine Humans Female Differential diagnosis business Genetics (clinical) Progressive disease |
| Zdroj: | Journal of Inherited Metabolic Disease. 32:107-110 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/s10545-009-1091-2 |
| Popis: | Haemophagocytic lymphohistiocytosis (HLH) is a rare and rapidly progressive disease which, untreated, invariably leads to death. Gaucher disease is a rare lysosomal storage disorder. The acute neuronopathic variant; type II, is also rapidly progressive. We report an infant with Gaucher disease type II manifesting as HLH. Immunoblot revealed a deficiency of Munc 13-4, an intracellular protein responsible for docking of secretory lysosomes. This, and other possible pathogenetic mechanisms to explain the link are discussed. |
| Databáze: | OpenAIRE |
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