acid-phosphatase and Cystic-Fibrosis

Topics: Acid Phosphatase; Antigens; Bismuth; Calcium; Cell Nucleus; Copper; Cystic Fibrosis; Electron Probe Microanalysis; Foreign Bodies; Gold; Hemosiderin; Hepatolenticular Degeneration; Humans; Lung; Metals; Minerals; Mitochondria; Nails; Pathology; Prostheses and Implants; Staining and Labeling

Topics: Acid Phosphatase; Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Blood Chemical Analysis; Carbohydrate Metabolism, Inborn Errors; Chromosome Aberrations; Chromosome Disorders; Cystic Fibrosis; Endoscopy; Female; Fetoscopy; Fetus; Genetic Diseases, Inborn; Humans; Lesch-Nyhan Syndrome; Lipid Metabolism, Inborn Errors; Lysosomes; Metabolism, Inborn Errors; Mucopolysaccharidoses; Pregnancy; Prenatal Diagnosis; Radiography; Ultrasonography; Urine

Topics: Abortion, Induced; Acid Phosphatase; Adrenal Hyperplasia, Congenital; Amnion; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Congenital Abnormalities; Counseling; Culture Techniques; Cystic Fibrosis; Economics, Medical; Ethics, Medical; Female; Fetal Diseases; Fibroblasts; Genetic Diseases, Inborn; Glycogen Storage Disease; Heterozygote; Homozygote; Humans; Lysosomes; Mannose; Marfan Syndrome; Methods; Mucopolysaccharidoses; Muscular Dystrophies; Porphyrias; Pregnancy; Punctures; Xeroderma Pigmentosum

Some scientific studies show decreased bone mineral density and increased fracture frequency in adult patients with cystic fibrosis (CF). The mechanism for early bone loss in CF patients are multifactorial: chronic pulmonary inflammation, malnutrition, reduced physical activity, delayed pubertal maturation. The aim of this study was to assess bone metabolism markers with special attention paid to osteoprotegerin (OPG) and receptor activator of nuclear factor κB ligand (RANKL) balance in CF children.. The study included 35 children with diagnosed CF and 35 healthy controls aged 5-9 years (median 7.0 years). Serum levels of fat soluble vitamins were measured by chemiluminescence (vitamin D) and HPLC (vitamins A, E) methods. Concentrations of bone metabolism markers were determined by immunoenzymatic assay.. Mean levels of fat soluble vitamins (A, D, E) were lower in patients with CF compared to controls. In CF children we observed a significant (p<0.01) decrease in concentration of bone formation marker (osteocalcin) and similar bone resorption markers (CTX, TRACP5b) in comparison with healthy children. The serum level of OPG was significantly lower (p<0.05) and RANKL nearly 2-fold higher in patients with CF than in the healthy ones. The ratio of OPG to RANKL was about 2-fold lower in children with CF compared to healthy peers (p<0.01).. In CF children, an imbalance between bone formation and resorption processes occurs. An increase serum RANKL concentration coexisting with lower levels of OPG may be associated with intensification of bone resorption.

Topics: Acid Phosphatase; Biomarkers; Bone Density; Bone Resorption; Calcium; Child; Child, Preschool; Collagen Type I; Cystic Fibrosis; Female; Humans; Isoenzymes; Male; Osteocalcin; Osteoprotegerin; Peptides; Phosphates; RANK Ligand; Tartrate-Resistant Acid Phosphatase; Vitamin A; Vitamin E

The allelic polymorphism of MET and D7S23 loci closely linked to the cystic fibrosis gene was studied using polymerase chain reaction of DNA synthesis. Our studies failed to reveal any significant differences in the distribution of the allelic frequencies of these loci in the populations regarded. The distribution of the allelic frequencies of MET locus in Bashkir and Komi populations did not virtually differ from that in the populations of St. Petersburg and Kiev and those of North-West Europe and North America. Similarity in the distribution of allele frequencies between Bashkir, Komi, Lithuanian and Buryatian populations was observed for the D7S23 locus. At the same time, significant difference from the allelic frequencies for this locus was noted in populations of St. Petersburg and Azerbaijan. Genetic distances between the Bashkir and Komi populations under study were specified according to the data on the allelic frequencies of MET and D7S23 loci. Comparative analysis of these distances and those obtained on the basis of the allelic frequencies of biochemically polymorphic systems of AB0, Rh-Hr blood groups, haptoglobin protein (Hp) and the enzyme of acid erythrocyte phosphatase (AcP) was carried out as well.

Topics: Acid Phosphatase; Blood Group Antigens; Cystic Fibrosis; DNA; Erythrocytes; Ethnicity; Genetic Linkage; Haptoglobins; Humans; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Russia

Prenatal diagnosis of 62 cases of cystic fibrosis was performed in high-risk families at 18-21 gestational weeks using biochemical and molecular tests. The diagnosis was ruled out in 42 and confirmed in 20 cases. The incidence of false-positive results was 8.3% (5 of 62) and that of false-negative results 3.7% (2 of 62). Reliability of prenatal diagnosis in concomitant use of biochemical and molecular tests was over 95%. Advantages of prenatal diagnosis of cystic fibrosis using DNA probes and requirements for its wider adoption in the first trimester are discussed.

Topics: Acid Phosphatase; Aminopeptidases; Amniocentesis; Amniotic Fluid; Cystic Fibrosis; DNA; Female; Fetal Diseases; gamma-Glutamyltransferase; Humans; Pregnancy; Pregnancy Trimester, First

This study determined in a blind fashion the activity levels and thermostability properties of two lysosomal hydrolytic enzymes, acid phosphatase and alpha-mannosidase, in plasma samples from 25 cystic fibrosis (CF) patients and 25 age- and sex-matched normal controls. Mean alpha-mannosidase activity (3.2 +/- 1.0 mU/ml) and acid phosphatase activities (6.5 +/- 2.9 mU/ml) in CF patients were not significantly different from those found in normal individuals (2.8 +/- 0.7 and 7.6 +/- 3.4 mU/ml, respectively). Using stringent conditions no differences in thermostability properties of these enzymes were found between plasma from CF patients as compared to that of normal controls. When activity levels of these enzymes and of four additional hydrolytic enzymes, alpha-L-fucosidase, alpha-galactosidase, alpha-glucosidase and beta-galactosidase, were determined in submandibular saliva, no significant differences in enzyme levels between CF and age- and sex-matched controls were noted nor were thermostability differences found. Our data do not support the concept that altered properties of these enzymes are useful as markers for detection of CF homozygotes and heterozygotes, nor the hypothesis that the defect underlying this disease is a deficiency of post-translational modification of glycoproteins leading to their mis-compartmentalization and qualitative alteration.

Topics: Acid Phosphatase; Adolescent; Adult; alpha-Glucosidases; alpha-L-Fucosidase; alpha-Mannosidase; Child; Child, Preschool; Cystic Fibrosis; Drug Stability; Female; Galactosidases; Hot Temperature; Humans; Lysosomes; Male; Mannosidases; Saliva; Submandibular Gland

The diagnosis of cystic fibrosis (CF) homozygotes and heterozygotes and of individuals without the CF gene, based on differences in the thermal stability of acid phosphatase and alpha-mannosidase, is reported. The residual activities at 36.5 degrees C and 41.3 degrees C were below 10% of the activity in unheated samples for homozygotes, 40-50% for heterozygotes and above 90% for normals. The intracellular alkaline phosphatase and extracellular beta-hexosaminidase activities after treatment with heparin and gammaglobulin were 500% and 200%, respectively, of the activities without this treatment in CF homozygotes, whereas for heterozygotes and normals the values were the same after treatment as before. Pedigrees of four CF families, covering 2-3 generations, are presented. The possible use of these tests as diagnostic tools is further discussed.

Topics: Acid Phosphatase; Alkaline Phosphatase; alpha-Mannosidase; beta-N-Acetylhexosaminidases; Cells, Cultured; Cystic Fibrosis; Female; Fibroblasts; Genetic Carrier Screening; Hexosaminidases; Homozygote; Hot Temperature; Humans; Male; Mannosidases; Pedigree

Nine lysosomal enzymes and alkaline phosphatase have been assayed in human pancreatic juice from controls and patients with chronic calcifying pancreatitis. Specific activities were evaluated by a nonparametric test (Wilcoxon) with a probability of 2 P less than or equal to 0.5. The values of acid phosphatase, alpha-glucosidase, beta-glucosidase and alpha-galactosidase are significantly higher in pathological juices; the values of alpha-mannosidase and beta-glucuronidase are also increased in the same patients but at the limit of significance. Alkaline phosphatase, beta-hexosaminidase and alpha-fucosidase follows the same trend but the values are not statistically significant between the two groups of patients. Studies on skin cultures of four patients with chronic calcifying pancreatitis demonstrate that the increased specific activities of lysosomal enzymes in the pathological juices do not correspond to a leakage of these enzymes into the extracellular space as described for cystic fibrosis.

Topics: Acid Phosphatase; Alkaline Phosphatase; alpha-Glucosidases; Calcinosis; Cells, Cultured; Chronic Disease; Cystic Fibrosis; Fibroblasts; Humans; Hydrolases; Lysosomes; Pancreatic Juice; Pancreatitis

The enzyme activities of alpha-fucosidase (pH 4.0 and pH 5.5), alpha-galactosidase, beta-galactosidase, alpha-glucosidase (pH 4.5 and pH 6.0), beta-glucosidase, beta-glucuronidase, beta-hexosaminidase, and alpha-mannosidase (pH 4.5 and pH 5.5) were investigated in sera from cystic fibrosis (CF) patients. Several of these activities were significantly increased in sera from patients compared to age-matched control children. CF-patients in a more advanced stage of the disease had a tendency to higher values of some of these hydrolases than those in better condition. No new isoenzymes of these hydrolases were found. Only minor differences could be detected in the pH-profiles of alpha-mannosidase and acid phosphatase from age-matched normal controls, heterozygotes and homozygotes for CF. With our technique, alpha-mannosidase and acid phosphatase showed the same thermostability in CF-patients. CF-heterozygotes and age-matched controls, except at 56 degrees C, when the activity of acid-phosphatase in the plasma from adult CF-heterozygotes decreased more than that from adult controls

Topics: Acid Phosphatase; alpha-Galactosidase; alpha-Glucosidases; alpha-L-Fucosidase; beta-Galactosidase; beta-Glucosidase; Cystic Fibrosis; Glucuronidase; Hexosaminidases; Hot Temperature; Humans; Hydrogen-Ion Concentration; Hydrolases; Isoenzymes; Mannosidases

Topics: Acid Phosphatase; Adolescent; Adult; Aged; Aging; alpha-L-Fucosidase; Child; Child, Preschool; Cystic Fibrosis; Drug Stability; Hot Temperature; Humans; Infant; Infant, Newborn; Mannosidases; Middle Aged

The ability to discriminate between cystic fibrosis (CF) patients, carriers and control subjects, by determining the degree of hear inactivation of certain plasma enzymes has recently been reported. Material from Israel on 39 patients, 68 carriers and 65 control subjects, was tested under the originally described conditions with concordant results and distinct separation of the three genotypes. No carriers were detected in the 65 control subjects, perhaps because of the dilutional effect of those ethnic groups in Israel among whom the frequency of the CF gene is known to be rare. Biochemically, no evidence of heterogeneity of CF was found among the various ethnic groups.

Topics: Acid Phosphatase; Adolescent; Adult; alpha-Mannosidase; Child; Cystic Fibrosis; Genetic Carrier Screening; Genotype; Hot Temperature; Humans; Hydrolases; Mannosidases; Middle Aged

Evidence is accumulating which indicates that the basic defect in cystic fibrosis interferes with the formation of recognition markers on hydrolytic enzymes. As a result these hydrolases leak into the extracellular space and some of them display abnormal thermolabilities. By heat inactivation of plasma alpha-mannosidase at 41 degrees C and plasma phosphatase at 36.5 degrees C, both enzymes being assayed at pH 5.4, it is possible to differentiate normal people from cystic fibrosis carriers and patients.

Topics: Acid Phosphatase; Cystic Fibrosis; Genetic Carrier Screening; Homozygote; Hot Temperature; Humans; Mannosidases

Topics: Acetylglucosaminidase; Acid Phosphatase; alpha-L-Fucosidase; Amylases; beta-Galactosidase; Blood Proteins; Cells, Cultured; Culture Media; Cystic Fibrosis; Glucosidases; Glucuronidase; Glycoside Hydrolases; Heterozygote; Homozygote; Humans; Lymphocytes; Mannosidases; Mitogens; Stimulation, Chemical; Xylosidases

The activity of alpha-L-fucosidase is decreased in the serum of cystic fibrosis patients when compared to age-matched controls. This result, combined with the elevated activity in skin fibroblasts, supports the concept of an abnormal intracellular and extracellular distribution of alpha-L-fucosidase in cystic fibrosis.

Topics: Acetylglucosaminidase; Acid Phosphatase; Adult; alpha-L-Fucosidase; Child; Cystic Fibrosis; Fibroblasts; Humans; Infant, Newborn; Skin

The specific activities of alpha-D-mannosidase, beta-glucuronidase, beta-D-fucosidase, acid and alkaline phosphatase were studied in meconium from infants with cystic fibrosis (CF) and control subjects. The study revealed significant variations in the specific activity of the enzymes except for acid phosphatase. The variations were not uniform. The activities of alpha-D-mannosidase, beta-glucuronidase and alkaline phosphatase were markedly decreased (p less than 0.001, p less than 0.002, p less than 0.001, respectively), while the activity of beta-D-fucosidase was significantly increased (p less than 0.001) in meconium from the infants with CF. It is suggested that the decreased activity of alpha-D-mannosidase and beta-glucuronidase might contribute to the accumulation of the abnormal substances in CF meconium. The highly increased activity of beta-D-fucosidase raises the possibility of an additional or alternative method for screening newborns for CF using meconium as the test material.

Topics: Acid Phosphatase; Alkaline Phosphatase; alpha-L-Fucosidase; Cystic Fibrosis; Glucuronidase; Glycoside Hydrolases; Humans; Infant, Newborn; Mannosidases; Meconium; Phosphoric Monoester Hydrolases

Topics: Acetylglucosaminidase; Acid Phosphatase; Adolescent; Adult; alpha-L-Fucosidase; Cells, Cultured; Child; Child, Preschool; Cystic Fibrosis; Fibroblasts; Glucuronidase; Glycoside Hydrolases; Humans; Infant; Reference Values; Skin

Topics: Acid Phosphatase; Adolescent; Asthma; Bronchiectasis; Bronchitis; Child; Child, Preschool; Chronic Disease; Cystic Fibrosis; Glucuronidase; Glycosaminoglycans; Hexosaminidases; Humans; Macrophages

Topics: Acetates; Acid Phosphatase; Arabinose; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Child; Chondroitin; Cystic Fibrosis; Fibroblasts; Fucose; Galactosidases; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Lysosomes; Mannose; Mucopolysaccharidoses

Topics: Acid Phosphatase; Adult; Cells, Cultured; Centrifugation, Density Gradient; Child; Cystic Fibrosis; Female; Galactosidases; Glucosidases; Glucuronidase; Glutamate Dehydrogenase; Glycogen; Glycoside Hydrolases; Glycosides; Heterozygote; Hexosaminidases; Humans; Lymphoid Tissue; Lysosomes; Malate Dehydrogenase; Male; Middle Aged; Mitochondria; Succinate Dehydrogenase; Sulfatases

Topics: Acid Phosphatase; Adult; Cell Movement; Citrates; Cystic Fibrosis; Fertility; Fructose; Humans; Hydrogen-Ion Concentration; Infertility, Male; Male; Semen; Spermatozoa

Topics: Acid Phosphatase; Adolescent; Adult; Cells, Cultured; Child; Child, Preschool; Cystic Fibrosis; Cytoplasmic Granules; Female; Fibroblasts; Galactosidases; Glucuronidase; Glycosaminoglycans; Humans; Infant; Infant, Newborn; Lysosomes; Male; Methods; Skin; Staining and Labeling; Sulfatases; Time Factors

Topics: Acid Phosphatase; Animals; Common Bile Duct; Cystic Fibrosis; Cytoplasmic Granules; Dilatation; Dogs; Endoplasmic Reticulum; Golgi Apparatus; Ligation; Male; Microscopy; Microscopy, Electron; Pancreas; Pancreatic Ducts; Pancreatitis; Rats; Sclerosis; Species Specificity

Topics: Acid Phosphatase; Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Catalase; Cell Line; Culture Techniques; Cystic Fibrosis; Cystinosis; Diffuse Cerebral Sclerosis of Schilder; Humans; Immunologic Deficiency Syndromes; Leukocytes; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Methods; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Muscular Dystrophies; Myotonia; Refsum Disease; Skin

Topics: Acid Phosphatase; Adult; Calcium; Carbohydrates; Citrates; Cystic Fibrosis; Fructose; Fucose; Humans; Infertility, Male; Magnesium; Male; Neuraminic Acids; Nitrogen; Potassium; Proteins; Semen; Sodium; Spermatozoa; Vas Deferens; Zinc

Topics: Acid Phosphatase; Adenine Nucleotides; Child; Cystic Fibrosis; Down Syndrome; Erythrocytes; Genes; Haptoglobins; Humans; Phenotype; Phenylketonurias; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Phosphotransferases; Polymorphism, Genetic; Transferrin

Topics: Acid Phosphatase; Blood Platelets; Breast Neoplasms; Buffers; Citrates; Cystic Fibrosis; Female; Heart Failure; Humans; Hydrogen-Ion Concentration; Kidney Failure, Chronic; Male; Phosphates; Prostate; Prostatic Diseases; Prostatic Neoplasms; Spectrophotometry; Stomach Neoplasms

Topics: Acid Phosphatase; Adolescent; Adult; Citrates; Cystic Fibrosis; Epididymis; Female; Fructose; Humans; Infertility, Female; Infertility, Male; Male; Pregnancy; Semen; Spermatozoa; Vas Deferens

Topics: Acid Phosphatase; Alkaline Phosphatase; Biopsy; Cystic Fibrosis; Humans; Spectrophotometry; Sweat Glands