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)

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

Osteopenia is a metabolic bone disease which affects a great deal of preterm infants. X-Ray evaluation is still the main step of the diagnostic and follow-up procedures. The Authors prospectively studied 77 newborn infants with birth weight less than 2500 grams, to identify specific clinical and biochemical features of the osteopenic infants. From the 2nd to the 12th week of life clinical, biochemical and radiological signs of osteopenia were looked for, every 2 weeks: the diagnosis of osteopenia was made on the basis of X-Ray. 26 osteopenic subjects with ga less than or equal to 32 weeks and/or bw less than or equal to 1500 grams were compared with 20 controls with ga less than or equal to 32 weeks and/or bw less than or equal to 1500 grams and with 31 control infants with ga greater than 32 weeks and bw greater than 1500 grams. Wider anterior funtanels, their progressively increasing dimensions, and craniotabe (with the "ping pong ball" sign) were the most characteristic features, as well as the increasing pattern of alkaline phosphatase activity, of the osteopenic babies. The Authors suggest a specific clinical and biochemical score to make the correct diagnosis and a non invasive follow-up in the osteopenic subjects and to avoid dangerous X-Ray exposure to babies that are not osteopenic.
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PMID:[Osteopenia of prematurity. Proposal for clinical-laboratory screening]. 155 78

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

We used quantitative assays to measure the activity of the bone, liver, and intestinal forms of alkaline phosphatase in plasma in 75 patients with endstage chronic renal failure undergoing hemodialysis. The results were correlated with radiological and other biochemical indices of bone disease and with biochemical indices of liver disease. The total activity of alkaline phosphatase in plasma increased in 28 patients. In 10 of these patients, nine of whom had increased activity of gamma-glutamyltransferase in plasma, the increase in total activity of alkaline phosphatase was from the liver isoenzyme alone (nine patients) or from the liver and bone isoenzymes together (one patient). Intestinal alkaline phosphatase in plasma, although greater than 23 U/L in eight patients, was solely responsible for the increase in total alkaline phosphatase in one patient (who had normal gamma-glutamyltransferase). Bone alkaline phosphatase in plasma was increased in 25 patients, seven of whom had normal total alkaline phosphatase, and was closely correlated (r = 0.78) with osteocalcin concentration in plasma, which was increased in a much greater proportion of patients (99%). Both total and bone alkaline phosphatase were correlated with parathyrin in plasma (r = 0.46 and 0.50, respectively) and with osteocalcin (r = 0.60 and 0.78, respectively). Osteocalcin and bone alkaline phosphatase, but not parathyrin, decreased with age, implying that the skeletal response to parathyrin may be age dependent. In patients with increased total alkaline phosphatase undergoing hemodialysis, the concurrent measurement of gamma-glutamyltransferase may help identify whether the enzyme increase originates from the liver or bone, but this approach wrongly identified the source of the increase in three of 28 patients. Therefore, we recommend a separate measurement of the bone isoenzyme of alkaline phosphatase.
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PMID:Multiple forms of alkaline phosphatase in plasma of hemodialysis patients. 204 42

The authors reviewed the clinical usefulness of routine comprehensive skeletal surveys in monitoring renal osteodystrophy in 66 patients on chronic maintenance hemodialysis. Only fourteen (22%) of the 66 patients had roentgenographic evidence of hyperparathyroid bone disease. There were no significant differences in serum calcium, phosphate, or aluminum levels between patients with and without evidence of phalangeal subperiosteal bone resorption in the hands. However, serum levels of parathyroid hormone (PTH) (both intact and mid-molecule) and alkaline phosphatase values were significantly higher in the group with subperiosteal bone resorption (p less than 0.01 and p less than 0.02, respectively). Serum intact PTH correlated with alkaline phosphatase better than the mid-molecule assay. Neither intact nor mid-molecule PTH values correlated with serum calcium, phosphate, or aluminum. Hand roentgenograms were most sensitive in detecting early changes of hyperparathyroidism; symphysis pubis was the next best. Other skeletal roentgenographic findings were less revealing, and in a subset of 20 patients, roentgenograms correlated poorly with bone histology. During this study the authors found an 8% prevalence of vertebral compression fractures; all in postmenopausal white women.
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PMID:Skeletal surveys in renal osteodystrophy. 176 1

The present review summarizes the characteristics of renal bone disease in pediatric patients treated with maintenance peritoneal dialysis. Fifty-eight patients underwent iliac crest bone biopsy after double tetracycline labeling, measurements of aluminum in bone and various serum biochemical determinations including serum PTH, alkaline phosphatase, calcium, phosphorus and aluminum. Evidence of osteitis fibrosa was present in 45% of patients and mild lesions of secondary hyperparathyroidism were found in an additional 25%. Thus, secondary hyperparathyroidism remains the predominant bone lesion despite the use of oral calcitriol. Evidence of aluminum accumulation was substantially less prevalent, findings not surprising due to the widespread use of calcium carbonate as the main phosphate binder agent. However, aplastic bone lesion without aluminum staining was present in the majority of patients with low-turnover lesions of the bone without osteomalacic findings. The long-term evolution of such lesions remains to be evaluated. The potential value of alternative modes of calcitriol administration for the control of secondary hyperparathyroidism is discussed as well as the differences in the bioavailability of sterol according to the different routes for calcitriol administration.
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PMID:Renal bone disease in pediatric patients receiving treatment with maintenance peritoneal dialysis. 177 95

Twelve patients with serologically and histologically defined symptomatic primary biliary cirrhosis were randomized to receive either oral cyclosporin A or vehicle placebo. The cyclosporin A-treated group had improvement in serum alkaline phosphatase and gamma-glutamyltransferase, suggesting a moderating effect on the course of the liver disease. However, other indices of the liver disease, including liver biopsies, did not show significant improvement. The purpose of this study was to examine the effect of the cyclosporin A treatment on serum indicators of bone and mineral metabolism in these patients, as in its later stages, primary biliary cirrhosis is associated with significant osteopenic bone disease. There were no significant changes in serum calcium, phosphate, magnesium, or vitamin D metabolites between the two groups. However, after one year of treatment, mean serum parathyroid hormone level was significantly lower in the cyclosporin A treatment group, and serum osteocalcin rose significantly. There were no significant changes in any parameter of mineral metabolism in the placebo group. The changes in parathyroid hormone and osteocalcin following cyclosporin A therapy suggest a reduction in the secondary hyperparathyroidism commonly seen with primary biliary cirrhosis and also an increase in bone formation, respectively. This study therefore provides preliminary evidence that cyclosporin A therapy seems to have a mild beneficial effect on the abnormalities of mineral metabolism seen with this disorder.
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PMID:Parameters of calcium metabolism during a pilot study of cyclosporin A in patients with symptomatic primary biliary cirrhosis. 178 26

Comparison between the plasma levels of intravenously injected technetium 99m hydroxy methylene [corrected] diphosphonate (99mTc-HMDP) and chromium 51 ethylene diamine tetra-acetic acid (51Cr-EDTA) reflects the uptake of diphosphonate into bone (the diphosphonate space). This can be used as an index of skeletal function in metabolic bone disease. In a series of 49 patients with Paget's disease the diphosphonate space (DPS) correlated well with other indicators of disease activity such as alkaline phosphatase and urinary hydroxyproline levels. The DPS is a good predictor of the volume of skeletal involvement as estimated from bone images. The DPS also provides a sensitive indicator of response to treatment with intravenously administered bisphosphonate. The DPS is simple to perform and is a useful adjunct to routine bone imaging.
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PMID:The diphosphonate space: a useful quantitative index of disease activity in patients undergoing hydroxy methylene diphosphonate (HMDP) bone imaging for Paget's disease [corrected]. 180 66

We have conducted an open, prospective study to investigate the efficacy of a single 60 mg infusion of pamidronate as alternative therapy in 15 subjects with severe Paget's bone disease refractory to calcitonin. Disease activity was assessed with a visual-analogue score of symptom severity, plasma alkaline phosphatase and quantitative estimation of 99mTc-methylene biphosphonate uptake on bone scan. All indices of disease activity fell after pamidronate, reaching a nadir at 3 months. Although disease activity increased thereafter, only 3 subjects required retreatment within 12 months. Plasma calcium fell after 3 days and remained below baseline levels for 6 months associated with evidence of secondary hyperparathyroidism. Pamidronate was well tolerated; femoral neck fractures occurred in 2 subjects with severe local Paget's disease but were unlikely to be due to the drug. We conclude that pamidronate is an effective and promising alternative for treatment of patients with severe Paget's disease no longer adequately controlled by calcitonin. Calcium supplementation may be prudent to prevent secondary hyperparathyroidism associated with the use of this agent.
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PMID:Single-dose intravenous pamidronate is effective alternative therapy for Paget's disease refractory to calcitonin. 181 3

Phosphonoformate (PFA), a monophosphonate pyrophosphate analog, caused plasma biochemical and bone histomorphologic abnormalities in cats given 1,000 mg/kg/day as a continuous intravenous infusion for 14 days. Plasma biochemical alterations observed in young cats (10 weeks old) treated with PFA included increased calcium and decreased phosphorus, alkaline phosphatase, and calcitriol. Young cats treated with PFA developed rickets-like lesions characterized by widened growth plates, increased osteoid, and failure of mineralization. In addition, area of mineralized trabecular bone was decreased. Osteoclast size was increased whereas osteoclast perimeter and number were unaffected in young PFA-treated cats. Plasma alkaline phosphatase was decreased in adult cats (greater than or equal to 1 year old) treated with PFA but changes in calcium, calcitriol, and immunoreactive parathyroid hormone were highly variable and not significantly different. Adult cats treated with PFA exhibited osteomalacia characterized by increased osteoid area, perimeter, and width with failure of mineralization. In addition, static resorption indices were increased in PFA-treated adult cats but area of mineralized trabecular bone was not decreased. The monophosphonate PFA inhibited bone mineralization in young and adult cats similar to bisphosphonate treatment in other species. Because PFA is currently in phase I trials for use in AIDS, results of this study suggest a need to evaluate patients treated with PFA for metabolic bone disease.
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PMID:Age-related differences in phosphonoformate-induced bone toxicity in cats. 182 19


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