THE IDENTIFICATION OF TYPE-1 GAUCHER DISEASE PATIENTS, ASYMPTOMATIC CASES AND CARRIERS IN THE NETHERLANDS USING URINE SAMPLES - AN EVALUATION

被引:4
作者
AERTS, JMFG
SAMIRANDA, MC
DELACERDA, LW
VANWEELY, S
DONKERKOOPMAN, W
BROUWERKELDER, B
JANSEN, DC
VANLEEUWEN, M
SCHRAM, AW
TSIAPARA, A
TAGER, JM
机构
[1] INST GENET MED JACINTO MAGALHAES,OPORTO,PORTUGAL
[2] UNIV ATHENS,DEPT PHYSIOL,ATHENS,GREECE
关键词
URINARY GLUCOCEREBROSIDASE; GAUCHER DISEASE; ASYMPTOMATIC GAUCHER DISEASE; CARRIER DETECTION; LYSOSOMAL STORAGE DISORDER; BETA-GLUCOSIDASE; GLYCOSPHINGOLIPIDOSIS;
D O I
10.1016/0009-8981(91)90308-Y
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
The feasibility of using urine samples for the identification of patients with Gaucher disease and carriers has been investigated. It was found that the pH of a urine sample should be pH 6.0 or lower to ensure stability of lysosomal hydrolases. Two parameters of glucocerebrosidase, which is deficient in Gaucher disease, were studied using urine samples from control subjects, obligate carriers and patients. Firstly, the relative level of glucocerebrosidase activity was measured by relating the activity of the enzyme to that of another lysosomal hydrolase. Secondly, the enzymic activity of glucocerebrosidase per unit of protein was measured using an immunological method. The first method allowed discrimination of nearly all obligate carriers of type 1 Gaucher disease from normal individuals. The second method allowed clear discrimination of the majority of carriers from normal individuals, but some obligate carriers were not distinguishable from normal subjects on the basis of this parameter. However, the combination of both methods allowed discrimination between all obligate carriers examined so far (n = 34) and controls (n = 86). There was variability between healthy individuals in the relative amount of glucocerebrosidase in urine samples. A small proportion of healthy individuals have a relatively high activity of glucocerebrosidase in urine samples, reminiscent of observations made in white blood cells by other investigators. In urine samples from two unrelated parents of Gaucher disease patients a level of glucocerebrosidase activity was present that could not be distinguished from that in samples of patients. These individuals represent cases with subclinical manifestation of Gaucher disease, illustrating once more the remarkable heterogeneity in clinical expression of this disorder.
引用
收藏
页码:349 / 362
页数:14
相关论文
共 32 条
[1]   COMPARISON OF THE PROPERTIES OF A SOLUBLE FORM OF GLUCOCEREBROSIDASE FROM HUMAN-URINE WITH THOSE OF THE MEMBRANE-ASSOCIATED TISSUE ENZYME [J].
AERTS, JMFG ;
DONKERKOOPMAN, WE ;
KOOT, M ;
MURRAY, GJ ;
BARRANGER, JA ;
TAGER, JM ;
SCHRAM, AW .
BIOCHIMICA ET BIOPHYSICA ACTA, 1986, 863 (01) :63-70
[2]   DEFICIENT ACTIVITY OF GLUCOCEREBROSIDASE IN URINE FROM PATIENTS WITH TYPE-1 GAUCHER DISEASE [J].
AERTS, JMFG ;
DONKERKOOPMAN, WE ;
KOOT, M ;
BARRANGER, JA ;
TAGER, JM ;
SCHRAM, AW .
CLINICA CHIMICA ACTA, 1986, 158 (02) :155-163
[3]   COMPARATIVE-STUDY ON GLUCOCEREBROSIDASE IN SPLEENS FROM PATIENTS WITH GAUCHER DISEASE [J].
AERTS, JMFG ;
DONKERKOOPMAN, WE ;
BRUL, S ;
VANWEELY, S ;
MIRANDA, MCS ;
BARRANGER, JA ;
TAGER, JM ;
SCHRAM, AW .
BIOCHEMICAL JOURNAL, 1990, 269 (01) :93-100
[4]  
Barranger J. A., 1989, METABOLIC BASIS INHE, P1677
[5]  
BEUTLER E, 1971, AM J HUM GENET, V23, P62
[6]   GAUCHERS-DISEASE IN AN ASYMPTOMATIC 72-YEAR-OLD [J].
BEUTLER, E .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1977, 237 (23) :2529-2529
[7]  
DANIELS LB, 1982, CLIN CHEM, V28, P569
[8]   EFFECT OF 2-DEOXYGLUCOSE ON LYSOSOMAL-ENZYMES IN CULTURED HUMAN-SKIN FIBROBLASTS [J].
DEGROOT, PG ;
STRIJLAND, A ;
KALSBEEK, R ;
MEERAKHAN, P ;
WESTERVELD, A ;
HAMERS, MN ;
TAGER, JM .
EXPERIMENTAL CELL RESEARCH, 1980, 126 (01) :207-216
[9]  
DESNICK RJ, 1982, GAUCHER DISEASE CENT, P1
[10]   USE OF A MONOCLONAL-ANTIBODY TO DISTINGUISH BETWEEN PRECURSOR AND MATURE FORMS OF HUMAN LYSOSOMAL ALPHA-GLUCOSIDASE [J].
ELFERINK, RPJO ;
STRIJLAND, A ;
SURYA, I ;
BROUWERKELDER, EM ;
KROOS, M ;
HILKENS, J ;
HILGERS, J ;
REUSER, AJJ ;
TAGER, JM .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1984, 139 (03) :497-502