A case of type I Gaucher disease with cardlopulmonary amyloidosis and chitotriosidase deficiency

Virchows Archiv

Volumn 429, Issue 4-5, 1996, Pages 305-309

  Hřebíček, Martin ^a   Zeman, Jiří ^b   Musilová, Jana ^b   Hodaňová, Kateřina ^a   Renkema, G Herma ^c   Vepřeková, Lenka ^b   Ledvinová, Jana ^a   Hřebíček, Dalibor ^b   Sokolová, Jitka ^a   Aerts, Johannes M F G ^c   Elleder, Milan ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Amyloidosis; Chitotriosidase deficiency; Gaucher disease

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; ARTICLE; AUTOPSY; CASE REPORT; ENZYME DEFICIENCY; GAUCHER DISEASE; HEART AMYLOIDOSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LUNG DISEASE; MALE; PRIORITY JOURNAL; SPLENECTOMY;

EID: 10544246903     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF00198347     Document Type: Article

References (21)

1. Aerts JMFG, Van Weely S, Boot R, Hollak CEM, Tager JM (1993) Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease. J Inherit Metab Dis 16:288-291
2. Ausubel F, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K (eds) (1994) Current protocols in molecular biology. Wiley, Chichester
3. Beutler E, Grabowski GA (1995) Gaucher disease. In: Scriver CE, Beaudet A, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2641-2670
4. Beutler E, Gelbart T, West C (1993) Identification of six new Gaucher disease mutations. Genomics 15:203-205
5. Bjerrum OJ, Schafer-Nielsen C (1986) Buffer systems and transfer parameters for semidry electroblotting with a horizontal apparatus. In: Dunn MJ (ed) Electrophoresis '86. VCH, Deerfield Beach, Fla, pp 315-327
6. Dikman SH, Goldstein M, Kahn T, Leo MA, Weinreb N (1987) Amyloidosis, an anusual complication of Gaucher's disease. Arch Pathol Lab Med 102:460-462
7. Hanash SM, Rucknagel DL, Heidelberger KP, Radin NS (1978) Primary amyloidosis associated with Gaucher's disease. Ann Intern Med 89:639-641
8. Hollak CEM, Van Weely S, Van Oers MHJ, Aerts JMFG (1994) Marked elevation of plasma chitotriosidase activity. J Clin Invest 93:1288-1292
9. Horowitz M, Zimran A (1994) Mutations causing Gaucher disease. Hum Mutat 3:1-11
10. Laemli UK (1971) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685
11. Markwell MA, Haas SM, Tolbert NE, Bieber LL (1981) Protein determination in membrane and lipoprotein samples: manual and automated procedures. Methods Enzymol 72:296-313
12. Pratt PW, Estren F, Kochwa S (1968) Immunoglobulin abnormalities in Gaucher's disease. Report of 16 cases. Blood 31: 633-640
13. Renkema GH, Boot RG, Muijsers AO, Donker-Koopman WE, Aerts JMFG (1995) Purification and characterisation of human chitotriosidase, a novel member of the chitinase family of proteins. J Biol Chem 270:2198-2202
14. Saiki RK, Gelfand DH, Stoffel S, Charf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer directed amplification of DNA with a thermostable DNA polymerase. Science 239:487-491
15. Shoenfeld Y, Berliner S, Pinkhas J, Beutler E (1980) The association of Gaucher's disease and dysproteinemias. Acta Haematol 64:241-248
16. Shoenfeld Y, Gallant LA, Shaklain M, Livni E, Djaldetti M, Pinkhas J (1982) Gaucher's disease: a disease with chronic stimulation of the immune system. Arch Pathol Lab Med 106: 388-391
17. Suzuki K (1987) Enzymatic diagnosis of sphingolipidoses. Methods Enzymol 138:747-751
18. Tan SY, Pepys MB(1994) Amyloidosis. Histopathology 25: 403-414
19. Van Weely S, Van Leeuwen MB, Jansen IDC, De Bruijn MAC, Brouwer-Kelder E, Schram AW, Sa Miranda MC, Barranger JA, Petersen EM, Goldblatt J, Stotz H, Schwarzman G, Sandhoff K, Svennerholm L, Erikson A, Tager JM, Aerts JMFG (1991) Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts. Biochim Biophys Acta 1096:301-311
20. Voss H, Wiemann S, Wirkner U, Schwager C, Zimmermann J, Stegemann J, Erfle H, Hewitt NA, Rupp T, Ansorge W (1992) Automated DNA sequencing system resolving 1000 bases with fluorescein-15-dATP as internal label. Methods Mol Cell Biol 3:153-155
21. Westermark P, Johnson KH, Pitkänen P (1985) Systemic amyloidosis: a review with emphasis on pathogenesis. Appl Pathol 3:55-68