Marked clinical and histologic improvement in a patient with type-1 Gaucher's disease following long-term glucocerebroside substitution. A case report and review of current diagnosis and management

Pathology Research and Practice

Volumn 199, Issue 3, 2003, Pages 159-163

  Heukamp, Lukas Carl ^a   Schröder, Detlef Wilhelm ^b   Plassmann, Dominik ^b   Homann, Jürgen ^b   Büttner, Reinhard ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b Evangelisches Waldkrankenhaus ^*  (Germany)

Author keywords

Diagnosis; Gaucher's disease; Glucocerobroside substitution

Indexed keywords

ALGLUCERASE; DIPEPTIDYL CARBOXYPEPTIDASE; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; IMIGLUCERASE;

ABDOMINAL PAIN; ABDOMINAL RADIOGRAPHY; ADULT; ANEMIA; ARTICLE; BLOOD CELL COUNT; BONE MARROW BIOPSY; CASE REPORT; CHOLECYSTECTOMY; CHOLELITHIASIS; CONVALESCENCE; ENZYME REPLACEMENT; FATIGUE; FEMALE; GAUCHER DISEASE; HEPATOSPLENOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LABORATORY TEST; LETHARGY; LIVER BIOPSY; LONG TERM CARE; LYMPHOCYTOPENIA; LYSOSOME STORAGE DISEASE; MONOCYTOSIS; NAUSEA; SUBSTITUTION THERAPY; THROMBOCYTOPENIA; VOMITING;

EID: 0037835755     PISSN: 03440338     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0344-0338(04)70367-2     Document Type: Article

References (20)

1. Barton NW, Brady RO, et al. (1991) Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324: 1464-1470
2. Beutler E, Dale GL, et al. (1977) Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation. Proc Natl Acad Sci USA 74: 4620-4623
3. Beutler E, Nguyen NJ, et al. (1993) Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52: 85-88
4. Charrow J, Andersson HC, et al. (2000) The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 160: 2835-2843
5. Charrow J, Esplin JA, et al. (1998) Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 158: 1754-1760
6. Choy FY (1985) Gaucher disease: comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues. Am J Med Genet 21: 519-528
7. Choy FY, Humphries ML, et al. (1997) Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient. Am J Med Genet 68: 211-215
8. Cox T, Lachmann R, et al. (2000) Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355: 1481-1485
9. Figueroa ML, Rosenbloom BE, et al. (1992) A less costly regimen of alglucerase to treat Gaucher's disease. N Engl J Med 327: 1632-1636
10. Fink JK, Correll PH, et al. (1990) Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease. Proc Natl Acad Sci USA 87: 2334-2338
11. Ginns EI, Choudary PV, et al. (1985) Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci USA 82: 7101-7105
12. Grabowski GA (1997) Gaucher disease: gene frequencies and genotype/phenotype correlations. Genet Test 1: 5-12
13. Iwasawa K, Ida H, et al. (1997) Differences in origin of the 1448C mutation in patients with Gaucher disease. Acta Paediatr Jpn 39: 451-453
14. Kohn DB, Nolta JA, et al. (1991) Toward gene therapy for Gaucher disease. Hum Gene Ther 2: 101-105
15. Lacerda L, Arosa FA, et al. (1999) T cell numbers relate to bone involvement in Gaucher disease. Blood Cells Mol Dis 25: 130-138
16. Lachmann RH, Wight DG, et al. (2000) Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features. Qjm 93: 237-244
17. Perez-Calvo JI, Giraldo P, et al. (1997) [Alglucerase treatment of type I Gaucher's disease. Preliminary results in Spain. Spanish Group on Gaucher's Disease]. Sangre (Barc) 42: 189-194
18. Ringden O, Groth CG, et al. (1988) Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease. Transplantation 46: 66-70
19. Rosenthal DI, Doppelt SH, et al. (1995) Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96: 629-637
20. Silverstein E, Friedland J (1977) Elevated serum and spleen angiotensin converting enzyme and serum lysozyme in Gaucher's disease. Clin Chim Acta 74: 21-25 f