Generalized crystal-storing histiocytosis associated with monoclonal gammopathy: molecular analysis of a disorder with rapid clinical course and review of the literature

阅读量：

作者：

A Lebeau，E Zeindl-Eberhart，Eva C. Muller，Josef Muller-Hocker，Udo Lohrs

展开

摘要：

sion of disease could not be affected by steroid therapy and the patient died of septic shock 7 months after detection of CSH. At the time of autopsy there was evidence for multiple myeloma and gener- alized CSH. Two-dimensional gel electro- phoresis of liver tissue combined with immunoblotting revealed the massive storage of heavy chains of type and light chains of type, each in a monoclo- nal pattern. Analysis of the stored light chain by nanoelectrospray-ionization mass spectrometry indicated that it be- longs to the variable I variability sub- group. We identified some unusual amino acid substitutions including Leu59, usu- ally important for hydrophobic interac- tions within a protein, at a position where it has never been previously described in plasma cell disorders. In conclusion, we present the first case of CSH with molecu- lar identification of the stored subgroup and detection of unusual amino acid sub- stitutions. Our results suggest that con- formational alterations induced by amino acid exchanges represent a crucial patho- genic factor in CSH. (Blood. 2002;100: 1817-1827)

展开

关键词：

Bioethics and Professional Ethics

DOI：

10.1182/blood-2001-12-0327

被引量：

236

年份：

2002