Gaucher disease diagnosis

Long-term enzyme replacement therapy for patients with a confirmed diagnosis of type 1 Gaucher disease... 

Ries M, Schaefer E, Liihrs T, Mani L, Kuhn J, Vanier MT, Krummenauer F, Gal A, Beck M, Mengel E (2006) Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/ and C. J Inherit Metab Dis 29 647-652... 

The suspicion of Gaucher disease often occurs when a relative of the patient suffers the disease however, diagnosis is not always this straightforward. In the absence of any suspicions... 

Elstein D,AbrahamovA, Hadas-Halpern I,et al. Recommendations for diagnosis, evaluation, and monitoring of patients with Gaucher disease. Arch Intern Med 159 1254-1255,1999. 

Grabowski GA, Andria G, Baldellou A, et al. Pediatric non-neuronopathic Gaucher disease presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 163 58-66, 2004. 

NIH technology panel on gaucher disease, gaucher disease, current issues in diagnosis and treatment. J. Am. Med. Assoc. 1996, 275 (7), 548-553. 

J. Charrow, J. A. Esplin, T. J. Gribble, et al. Gaucher disease Recommendations on diagnosis, evaluation, and monitoring. Archives of Internal Medicine 158, 1754 (1998). 

Elevated levels of serum lysozyme have been observed in cases of Gaucher disease this high level was considered to reflect an increased body mass of reticuloendothelial cells. It was suggested that the enzyme elevation might be of use in diagnosis of Gaucher disease. In cases of monocytic leukaemia, myelomonocytic leukaemia, and myeloma no evidence has been found for immunoglobulin (IgG)-lysozyme complexes. The mobility of the serum lysozyme was identical to that of free urinary lysozyme. 

Chamoles NA, Blanco M, Gaggiolo D, Casentini C (2002) Gaucher and Niemann-Pick diseases - enzymatic diagnosis in dried blood spots on filter paper retrospective diagnoses in newborn-screening cards. Clin Chim Acta 317 191-197... 

Daniels LB, Glew RH 3-Glucosidase assays in the diagnosis of Gaucher s disease. Clin Chem 28 569-577,1982. 

Stacy M, Jankovic J (1992) Differentia diagnosis of Parkinson s disease and tire pai kinsonism plus syndi omes. hr Pai kinson s Disease (Cedai baum J, Gaucher S, eds), pp 341—359. Philadelpliia W.B. Sauders Company. 

Beutler, E. Gaucher s disease new molecular approaches to diagnosis and treatment. Science 1992 256 794-799... 

Harzer, K. Enzymic diagnosis in 27 cases with Gaucher s disease. Clin. Chim. Acta 1980 106 9-15... 

In 1957, Tuchman and Swick (T6) reported the finding of elevated serum acid phosphatase activities, ranging from 7.0 to 10.3 K.A. units in a 68-year-old man, who was first suspected of having carcinoma of the prostate. The diagnosis of Gaucher s disease was then considered and confirmed by a sternal marrow aspiration. By 1959, Tuchman et al. (T7)... 

Another, more recent, example is enzyme therapy for Gaucher s disease, an inborn error of metabolism, treated with Ceredase. The therapy, which requires more than a ton of placenta annually to extract and make the drug, can cost as much as 500,000 per year per person, depending on the dosage needed. A 1996 National Institutes of Health technology assessment panel addressed issues in diagnosis and treatment of the disease and concluded that despite the success of enzyme therapy, treatment is limited by the cost. 

Differential diagnosis from Tay-Sachs disease is possible on the basis of visceral storage, from Niemann-Pick disease and Gaucher s disease through the identification of the stored lipid and from Hurler s syndrome by the storage and excretion of acid mucopolysaccharides in the latter. 

Block, M., and L. 0. Jacobson The histogenesis and diagnosis of the osseous type of Gaucher s disease. Acta haemat. (Basel) 1, 165 (1948). 

Marklen, P., R. Waitz, and J. Warter Diagnosis of Gaucher s disease by splenic puncture. Bull. Soc. Med. Paris 49, 36 (1933). 

There are a number of findings, the relation of which to the disease has not been established. A ten-fold elevation of serum acid phosphatase has been observed in a three year-old patient by Hastrup and Videbaek (1954). Since this enzyme differed from prostatic phosphatase by exhibiting a lower activity towards beta-glycerophosphate, it was similar to the acid phosphatase which is found elevated in Gaucher s disease and there is reason to doubt the diagnosis of NPD in this case. Elevation of serum acid phosphatase activity in NPD has not been found by other observers for instance the relevant values were normal on 11 occasions in six patients studied by Crocker and Farber (1958). 

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