Improvement of bone disease with increased dose of glucocerebrosidase in a Gaucher disease patient who had a bone lesion presenting during low-dose enzyme replacement therapy

Pediatrics International

Volumn 38, Issue 3, 1996, Pages 260-264

  Ueda, Takahiro ^a   Fukunaga, Yoshitaka ^a   Migita, Makoto ^a   Watanabe, Atsushi ^a   Kaneko, Kiyoshi ^a   Morita, Toshisada ^b   Yamamoto, Masao ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b SHIZUOKA MEDICAL CENTER   (Japan)

Author keywords

Bone disease; Enzyme replacement therapy; Gaucher disease; Glucocerebrosidase

Indexed keywords

GLUCOSYLCERAMIDASE;

ARTICLE; AVASCULAR NECROSIS; CASE REPORT; CHILD; CLINICAL FEATURE; DOSE RESPONSE; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMUR HEAD NECROSIS; GAUCHER DISEASE; GENOTYPE; HUMAN; MAINTENANCE THERAPY; MALE; MEDICAL RECORD; PRIORITY JOURNAL; RADIODIAGNOSIS; SPLEEN TRANSPLANTATION; SPLENECTOMY;

CHILD; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG ADMINISTRATION SCHEDULE; FEMUR HEAD; FEMUR HEAD NECROSIS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; SPLENECTOMY;

EID: 0030002196     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.1996.tb03482.x     Document Type: Article

References (14)

1. Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides II. Evidence of enzymatic deficiency in Gaucher disease. Biochem. Biophys. Res. Commun. 1965; 18: 221–5.
2. Barton NW, Furbish FS, Dumbrosia JM et al. Replacement therapy for inherited enzyme deficiency: Macrophage-targeted glucocerebrosidase for Gaucher disease. N. Engl. J. Med. 1991; 324: 1464–70.
3. Migita M., Fukunaga Y., Ueda T., Watanabe A., Morita T., Yamamoto M. Progression of bone disease without deterioration of hematological parameters in a child with Gaucher disease during low-dose glucocerebrosidase therapy. Nippon Ika Daigaku Zasshi 1994; 61: 633–7.
4. Migita M., Watanabe A., Doi H. et al. Enzyme replacement therapy for Gaucher disease-The first recorded case in Japan. Nippon Shyonika Gakkai Zasshi 1993; 97: 810–16 (in Jpn.).
5. Kitagawa T., Ohwada M., Tada K. et al. A multicenter trial of intravenous administration of modified glucocerebrosidase (JC0192) in 6 patients with type 1 Gaucher disease. Shyonika Rinsyou 1994; 47: 157–80 (in Jpn.).
6. Mankin HJ, Dopplet SH, Rosenberg AE, Barranger JA. Metabolic bone disease in patients with Gaucher disease. In: Avoili LV, Krane SM (eds). Metabolic Hone Disease and Clinically Related Disorders. 2nd edn, WB Saunders Co., Philadelphia. 1990; 730–52.
7. Esplin JA, McPherson ED. Treatment of bone complications in patients with Gaucher disease. Gaucher Clinical Perspectives 1994; 2: 7–12.
8. Barton NW, Brady RO. Dambrosia JM et al. Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease. J. Pediatr. 1992; 120: 277–80.
9. Fleshner PR, Aufses AH, Grabowski GA. A 27 year experience with splenectomy for Gaucher disease. Am. J Surg. 1991; 161: 69–75.
10. Daninel W., Stowens DW, Steven L. et al. Skeletal complications of Gaucher disease. Medicine (Baltimore) 1985; 64: 310–22.
11. Tsuji S., Choudary DV, Martin BM et al. A mutation in the human glycocerebrosidase gene in neuropathic Gaucher disease. N. Engl. J. Med. 1987; 316: 570–5.
12. Masuno M., Tomatus S., Sukegawa K., Orill T. Non-existence of a tight association between a 444 leucine to proline mutation and phenotype of Gaucher disease: High frequency of a Ncil polymorphism in the non-neuronopathic form. Hum. Genet. 1990; 84: 203–6.
13. Ida H., Iwasawa K., Kawame H., Rennert OM, Maekawa K., Eto Y. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: Absence of the common Jew ish 84 GC and 1226G mutation. Hum. Genet. 1995; 95: 717–20.
14. Bembi B., Zanatta M., Carrozzi M. et al. Enzyme replacement treatment in type 1 and type 3 Gaucher disease. Lancet 1994; 344: 1679–82.