Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy

Haematologica

Volumn 93, Issue 7, 2008, Pages 1119-1120

  De Fost, Maaike ^a   Van Noesel, Carel J M ^a   Aerts, Johannes M F G ^b   Maas, Mario ^c   Pöll, Ruud G ^d   Hollak, Carla E M ^a,e  

^a Department of Internal Medicine ^*

^b Medical Biochemistry   (Turkey)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHITOTRIOSIDASE; IMIGLUCERASE;

ADULT; BACTERIAL ARTHRITIS; BONE DISEASE; BONE PAIN; CASE REPORT; DRUG DOSE INCREASE; ENZYME BLOOD LEVEL; ENZYME REPLACEMENT; EPSTEIN BARR VIRUS; GAUCHER DISEASE; HUMAN; LETTER; MALE; SPLENECTOMY; SPLENOMEGALY; TOTAL HIP PROSTHESIS; VIRUS INFECTION;

ADULT; AGED; ARTHROPLASTY; BONE DISEASES; BONE MARROW; FEMALE; FEMUR HEAD NECROSIS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEXOSAMINIDASES; HUMANS; MALE; MIDDLE AGED; TREATMENT OUTCOME;

EID: 46849112025     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12651     Document Type: Letter

References (8)

1. Brady RO, Kanfer JN, Shapiro D. Metabolism of glucoerebrosides. II. Evidence of an enzymatic deficiency IN GAUCHER'S DISEASE. Biochem Biophys Res Commun 1965;18:221-5.
2. de Fost M, Hollak CE, Groener JE, Aerts JM, Maas M, Poll LW, et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood 2006;108:830-5.
3. Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, et al. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 1992; 71:337-53.
4. Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994;93:1288-92.
5. Hollak C, Maas M, Akkerman E, den Heeten A, Aerts H. Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease. Blood Cells Mol Dis 2001;27:1005-12.
6. Maas M, Hollak CE, Akkerman EM, Aerts JM, Stoker J, Den Heeten GJ. Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol 2002;179:961-5.
7. Boven LA, van Meurs M, Boot RG, Mehta A, Boon L, Aerts JM, et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 2004;122:359-69.
8. van Breemen MJ, de FM, Voerman JS, Laman JD, Boot RG, Maas M, et al. Increased plasma macrophage inflammatowwry protein (MIP)-1α and MIP-1β levels in type 1 Gaucher disease. Biochim Biophys Acta 2007;1772:788-96.