Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One hundren seventy-eight azotemic patients, 114 on hemodialysis, had measurements of total serum ALP, and definition of isoenzyme patterns on acrylamide gel electrophoresis. In addition, bone histomorphometry was defined in all of the patients by means of transiliac bone biopsies. Serial estimations over 2 years were carried out on several patients, including some being treated with vitamin D2, 1alphaOHD3, and 1,25(OH)2D3. (1) In both nondialyzed and dialyzed patients, serum ALP showed a significant positive correlation with osteitis fibrosa due to secondary hyperparathyroidism irrespective of the presence or absence of concurrent osteomalacia. Increases in the bone isoenzyme were largely responsible for the rise in total ALP. (2) A higher incidence of osteomalacia (p less than 0.001) was observed in patients on hemodialysis in Newcastle Upon Tyne. In hemodialyzed patients where osteomalacia was accompanied by either no secondary hyperparathyroidism (21 patients) or minimal secondary hyperparathyroidism (14 patients), serum ALP remained within normal limits, giving no indication of the existing osteomalacic bone disease. Isoenzyme studies revealed a high prevalence of the intestinal type and also varied combinations of hepatic, intestinal, and bone types. (3) Good response to vitamin D depended on the presence of significant amounts of the bone isoenzyme. Azotemic osteodystrophy characterized by a raised serum ALP and a prominent bone isoenzyme predicted a good response to vitamin D, and the decrease in serum ALP following vitamin D was the result of a reduction in the bone isoenzyme. Patients with symptomatic dialysis osteomalacic bone disease, accompanied by normal total serum ALP and no elevation of the bone isoenzyme, responded less well.
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PMID:Serum alkaline phosphatase in azotemic and hemodialysis osteodystrophy: a study of isoenzyme patterns, their correlation with bone histology, and their changes in response to treatment with 1alphaOHD3 and 1,25(OH)2D3. 43 10

This study demonstrates that there are distinct abnormalities of vitamin D and calcium metabolism in children with nephrotic syndrome (NS) and normal renal function. In patients with active NS, serum calcium, ionized calcium, 25-OHD3 and CT were decreased, plasma PTH level was increased and serum ALP was elevated. These abnormalities returned to normal in remission. Serum 1,25-(OH)2D3, although normal in absolute value during both active and remission stage, may be inappropriately low for the hypocalcemia and hyperparathyroidism during the active stage. Therefore, children with active NS are at the risk of developing metabolic bone disease. The treatment with a high dose of vitamin D3 may correct the abnormalities, which suggests vitamin D3 should be used in children with protracted active NS.
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PMID:Vitamin D and calcium metabolism in children with nephrotic syndrome of normal renal function. 129 Dec

We report a case of recurrent transient hyperphosphatasemia in a 29-year-old man with immune deficiency. He had serum alkaline phosphatase (ALP; EC 3.1.3.1) activity 16.9- and 4.8-fold greater than the upper reference limit on two occasions; the activity returned to normal within 2 months on the first and within 1 month on the second. On both occasions we observed the typical electrophoretic pattern for ALP isoenzymes seen in transient hyperphosphatasemia of infancy. We noted no evidence of liver or bone disease. Recognition of the occurrence of transient hyperphosphatasemia of infancy in adults, although rare (it is the fifth case reported), seems as important as in children so that unnecessary extensive investigations are avoided.
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PMID:Recurrent transient hyperphosphatasemia of infancy in an adult. 152 34

This modified lectin affinity electrophoresis method is suitable for simultaneous measurement of liver, bone, and high-molecular-mass (high-Mr) isoforms of alkaline phosphatase (ALP; EC 3.1.3.1) in children. Age-related isoform reference ranges were derived for 247 children, ages 0-13 years. Liver ALP did not appear in plasma until after six months of age, and remained constant after one year of age. Bone ALP was highest in the youngest age group, and declined to relatively constant activities thereafter. High-MrALP was not detected in normal children. In bone disease, the bone isoform was increased in all age groups. In liver disease, only 5 of 30 infants younger than six months had detectable liver ALP, although half had increased bone ALP. Among children older than six months, 5 patients with biliary atresia and 15 patients with hepatitis A all had increased liver isoform activity. Liver ALP was also a sensitive index of early hepatobiliary complications in 27 nonjaundiced children with cystic fibrosis. Measurement of ALP isoforms therefore yields useful clinical information in children older than six months but is of doubtful value in younger infants.
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PMID:Wheat-germ lectin affinity electrophoresis for alkaline phosphatase isoforms in children: age-dependent reference ranges and changes in liver and bone disease. 158 17

This report describes the changes of serum Ca, P, ALP and 25-OH D3 (using protein binding assay) with age in 592 normal Beijing subjects, aged 0-87 years old. The results were: (1) There was highly negative correlation between age and 25-OH D3 (r = -0.380, P less than 0.01), especially after 41 years old, less between age and ALP and least with P and Ca. (2) There was a significant sex difference of 25-OH D3 and ALP (P less than 0.05). Their serum levels were higher in the male than in the female, indicating that the female is easier to suffer from metabolic bone disease than the male after 41 years of age. (3) There was a distinct seasonal variation in serum 25-OH D3 levels, which were lower in winter and Spring than in Summer and Autumn (P less than 0.001), indicating that there is a greater possibility of Vitamin D deficiency in Winter and Spring.
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PMID:[Serum levels of 25-hydroxyvitamin D in normal Beijing subjects]. 191 87

The widespread clinical use of hemodialysis has prolonged the survival of a vast number of uremic patients, but it has also yielded some problems including renal osteodystrophy. Recently, it has become well known that the clinical use of active vitamin D metabolites is effective in many patients with renal osteodystrophy. However, there are many patients with bone diseases resistant to such treatment. Several lines of evidences implicate aluminum as one of the causal factors in the production of such diseases. We recently found 20 patients with bone diseases associated with the deposition of aluminum in front of active calcification in the bone. All of them were undergoing maintenance hemodialysis with softened water thrice weekly and taking aluminum containing antacids and 1 alpha-(OH)D3. The age of the patients ranged between 30 y.o. and 62 y.o. (46.5 +/- 9.0, mean +/- s.d.). All of them had severe bone pain and 8 of them had bone fractures. Bone X-ray, bone scintigraphy, serum Ca, P, ALP, serum aluminum and bone histology were examined. Based on the bone histology, they were classified into four types; inactive type (9), osteomalacia type (6), mild type (4) and mixed type (1). There were no significant differences among each group concerning serum values of Ca, P and aluminum. Serum value of ALP tended to be high in the osteomalacia type, and that of c-PTH was significantly low in the inactive type compared with the other types. Our finding suggest that aluminum associated bone disease is not so rare in Japan and show that the diagnosis of this disease should be made histologically and that clinical and blood chemical features are not reliable for the diagnosis of aluminum associated bone disease in hemodialysis patients.
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PMID:[Aluminum associated bone disease in patients undergoing long-term hemodialysis]. 375 31

Bone alkaline phosphatase is a marker of osteoblast activity. In order to study the posttranscriptional modification (glycosylation) of bone alkaline phosphatase in bone disease, we investigated the relationship between mass and catalytic activity of bone alkaline phosphatase in patients with osteoporosis and hyperthyroidism. Serum bone alkaline phosphatase activity was measured after lectin precipitation using the Iso-ALP test kit. Mass concentration of bone alkaline phosphatase was determined with an immunoradiometric assay (Tandem-R Ostase). In general, serum bone alkaline phosphatase mass and activity concentration correlated well. The activity : mass ratio of bone alkaline phosphatase was low in hyperthyroidism. Activation energy of the reaction catalysed by bone alkaline phosphatase was high in osteoporosis and in hyperthyroidism. Experiments with neuraminidase digestion further demonstrated that the thermodynamic heterogeneity of bone alkaline phosphatase can be explained by a different glycosylation of the enzyme.
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PMID:Posttranslational heterogeneity of bone alkaline phosphatase in metabolic bone disease. 786 22

We measured serum bone alkaline phosphatase (B-ALP) with a new immunoradiometric assay (IRMA) in a large sample of healthy controls comprising 173 women and 180 men, 20-88 yr of age, and in patients with metabolic bone disease. Using serum samples from patients with liver disease and patients with Paget's disease with elevated total alkaline phosphatase (T-ALP) as a source of, respectively, liver and bone isoenzymes, we determined a liver cross-reactivity of the IRMA of 16% that was confirmed by electrophoresis of the circulating alkaline phosphatase isoenzymes. The IRMA was linear for serial sample dilutions, the recovery ranged from 89-110%, and the intra- and interassay variations were below 7% and 9%, respectively. B-ALP increased linearly with age in both sexes, and the mean B-ALP serum levels were not significantly different for women and men (11.3 +/- 4.8 ng/mL for women; 11.0 +/- 4.0 ng/mL for men). The increase in B-ALP after the menopause was significantly higher than that in T-ALP (+77% vs. +24%; P < 0.001). When the values of postmenopausal women were expressed as the SD from the mean of premenopausal women, the mean Z scores were 2.2 +/- 1.8 for B-ALP and 0.9 +/- 1.3 for T-ALP (P < 0.001 between the two). Serum B-ALP was increased from control values in patients with Paget's disease (n = 57; mean, 171.8 +/- 135.6 ng/mL; P < 0.001), in patients with primary hyperparathyroidism (n = 18; mean, 17.2 +/- 5.9 ng/mL; P < 0.001), and in patients with chronic renal failure on hemodialysis (n = 83; mean, 36.6 +/- 35.7 ng/mL; P < 0.001). In patients with Paget's disease, B-ALP was highly correlated with T-ALP (r2 = 0.94; P < 0.001), and the decrease in its serum level was larger than that in T-ALP after treatment with the bisphosphonate pamidronate (-58% vs. -43%; P < 0.03). In patients with various liver diseases, B-ALP was slightly increased, but stayed within the normal range (mean +/- 2 SD) until T-ALP did not exceed 4.5 mu katal/L. We conclude that this new IRMA for B-ALP is reliable, has a low cross-reactivity with the liver isoenzyme, and appears to be more sensitive than T-ALP for the clinical investigation of patients with osteoporosis and other metabolic bone diseases.
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PMID:Assessment of the serum levels of bone alkaline phosphatase with a new immunoradiometric assay in patients with metabolic bone disease. 810 54

Hypophosphatasia is a rare metabolic bone disease characterized biochemically by deficient enzymatic activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). All isoforms of TNSALP (e.g. bone and liver TNSALP), apparently differing only by posttranslational modifications, are affected. To explore the biochemical basis and extremely variable severity of hypophosphatasia, we used 2-site immunoradiometric assays that quantify in serum either 1) bone TNSALP (iBALP) alone, or 2) both bone and liver TNSALP (iTNSALP). Sera from 33 patients in 26 kindreds reflecting all 6 clinical types of the disorder were studied. In every patient, except the two with pseudohypophosphatasia, serum iBALP and iTNSALP levels were decreased compared to age-appropriate control ranges. The magnitude of the decrease in iBALP and iTNSALP levels correlated with clinical severity. The mean ratio of iBALP or iTNSALP level to total ALP activity was unremarkable for the mild childhood, adult, and odonto forms of hypophosphatasia. For the severe perinatal and infantile forms, the mean ratios were low. If our finding of reduced iBALP levels in the circulation reflects a similar abnormality in the skeleton, the pathogenesis of hypophosphatasia could involve decreased amounts of extracellular TNSALP in bone and cartilage. How TNSALP gene mutations affect the enzyme and cause skeletal disease requires further investigation.
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PMID:Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. 896 42

A detailed time course of alkaline phosphatase (ALP; EC3.1.3.1) activity of transient hyperphosphatasemia (TH) in a 9-year-old boy with acute lymphoblastic leukemia (ALL) is described. The patient's serum ALP activity rose transiently to 49 times the upper limit of normal adult, without any evidences of hepatic and bone disease. The half-life of ALP activity was calculated about 10 days. We characterized ALP isoenzymes by usual electrophoresis using cellulose acetate membrane (Titan III iso-vis) and polyacrylamide disc gel (AlkPhor), and isoelectric focusing using polyacrylamide slab gel. The former two methods showed typical two bands (fast-alpha 2 and alpha 2 beta bands) and the latter one method revealed more basic bands of liver and bone, suggesting the extensive sialylation. The patient complained fever and diarrhea. Enterococcus faecium was detected from his stool. Etiologically, two more patients in the same ward showed TH in the same period. It suggested TH would be occurred by infectious states. Awareness of such benign forms of hyperphosphatasemia not related to malignancy will aid the physician in the differential diagnosis of elevated ALP activity.
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PMID:[Transient hyperphosphatasemia observed in a boy with acute lymphoblastic leukemia]. 928 33


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