Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A syndrome of intrahepatic cholestasis leading to death in early childhood was studied in 16 Greenland Eskimo children. The pedigrees are compatible with autosomal recessive inheritance. Jaundice, bleeding, pruritus, malnutrition, steatorrhoea, osteodystrophy and dwarfism were typical clinical features. Eight had died between the ages of six weeks and three years due to bleeding or infections. Hyperbilirubinaemia, profound hypoprothrombinaemia, thrombocytosis and elevated alkaline phosphatase levels were evident. Serum calcium, phosphate and parathyroid hormone levels indicated a secondary hyperparathyroidism. Hepatic fibrosis developed with increasing age. Follow-up of the surviving patients was 4 to 30 months. The aetiology of the disease is unknown. The syndrome has some features in common with previously described patients with familial intrahepatic cholestasis. No specific treatment is available. Genetic counselling is essential.
 ...
PMID:Fatal familial cholestatic syndrome in Greenland Eskimo children. 356 58

45 bone biopsies from patients with chronic uremia were reviewed to define which noninvasive investigations were of value in predicting the histological diagnosis and to quantify the spectrum of uremic bone disease at a center that has consistently used an aluminum-free dialysis bath. 17 biopsies were taken postmortem. 15 patients received conservative treatment, the rest were on maintenance dialysis. 13 patients had symptomatic bone disease. Virtually all patients with a uremia duration greater than 3 years had uremic osteodystrophy. All patients with clinical bone disease, hypercalcemia or raised alkaline phosphatase activity had osteodystrophy, but the specific histology was not indicated. Greatly raised parathyroid levels suggested secondary hyperparathyroidism, but the test was only 100% specific when 20 times normal. Total aluminum consumption was highly indicative of bone aluminum concentration (p less than 0.0001) and aluminum-related osteomalacia (5 cases), suggesting that a considerable proportion of uremic bone disease is iatrogenic. Serum aluminum was of some use in the diagnosis of aluminum-related osteomalacia, but was not wholly reliable. Bone mineral content (BMC) using both forearm measurements and total body bone mineral levels (TBBM) were assessed in 32 patients and were found to be reduced in 12, with a preponderance of secondary hyperparathyroidism. BMC and TBBM were negatively correlated to resorbing surfaces and bone formation rate, suggesting that secondary hyperparathyroidism is the uremic bone disease that represents the greatest threat to bone mass. It is concluded that while noninvasive investigations give considerable information, reliable diagnosis requires the use of histological methods.
 ...
PMID:Noninvasive diagnosis of uremic osteodystrophy: uses and limitations. 363 Nov 50

The sensitivity of bone to parathormone in pseudoparathyroidism is not well known. Six patients with Type I pseudohypoparathyroidism (4 with Albright's osteodystrophy) had increased alkaline phosphatase levels (5 patients) and radiological signs of periosteal resorption in the hand in one case. All patients had histological signs of increased surfaces of resorption and periosteocytic lacunae, increased osteoid surfaces and relative osteoid volume with no change of the index of osteoid thickness. These changes are identical to those observed in hyperparathyroidism which leads on to the discussion of the role of the increased parathormone secretion induced by the lack of calcium on the remodeling of bone. Our six cases show that there is no bone resistance to parathormone. The diversity of bone changes in hyperparathyroidism, similar to that of primary hyperparathyroidism, is without doubt dependent on the degree of renal insensitivity to PTH through the inactivation of vitamin D.
 ...
PMID:[Sensitivity of bone to parathyroid hormone in type I pseudohypoparathyroidism. 6 cases]. 376 89

Dynamic skeletal histomorphometry was performed in 94 unselected patients receiving maintenance dialysis for chronic renal failure. An attempt was made to correlate the results with the clinical, biochemical and radiological findings. Skeletal histology was abnormal in each case. Hyperparathyroidism was present as the only abnormality in 18 patients and osteomalacia in 26; 50 patients showed both abnormalities. Osteomalacia, in contrast to hyperparathyroidism, increased in prevalence and severity with the duration of dialysis and with bone aluminum content. The majority of patients had histological osteosclerosis. It was impossible to predict either the nature or the severity of the histological lesions on the basis of symptoms and physical signs or on the basis of most biochemical parameters (including serum concentrations of three vitamin D metabolites). Serum alkaline phosphatase values and serum immunoreactive parathyroid hormone (iPTH) concentrations were positively correlated with the severity of histological hyperparathyroidism. Subperiosteal erosions of the phalanges were associated with severe histological hyperparathyroidism in each case but this radiological sign was absent in 66% of patients with histological hyperparathyroidism. Radiological osteosclerosis was associated with severe histological osteomalacia in each case, but this radiological sign was absent in 87% of patients with histological osteomalacia. No other radiological sign proved a reliable guide to the underlying skeletal histology. In the majority of dialysis patients, a skeletal biopsy is required for an accurate diagnosis of the nature and severity of azotemic osteodystrophy.
 ...
PMID:Dialysis osteodystrophy. A study involving 94 patients. 383 91

Fifty-nine patients with end-stage renal disease undergoing long-term dialysis were studied prospectively for joint disease. Radiographic assessment allowed division of patients into 3 groups: group 1 included 12 patients with renal osteodystrophy and erosions of the metacarpophalangeal, proximal interphalangeal, distal interphalangeal, shoulder, wrist, and knee joints; group 2 had 11 patients with renal osteodystrophy without articular erosions; group 3 included 36 patients without osteodystrophy or erosions. Clinical manifestations were frequent in patients of group 1 and included episodes of arthralgias of the metacarpophalangeal, wrist, proximal interphalangeal, and knee joints. Patients of groups 1 and 2, particularly those of group 1, had a longer mean duration of dialysis and a higher mean serum alkaline phosphatase level compared with group 3 patients. The study indicates that there is a relatively high incidence (20%) of erosive arthropathy in dialysis patients. Renal osteodystrophy, more specifically, secondary hyperparathyroidism, and duration of dialysis are important factors in the development of this articular disorder.
 ...
PMID:Erosive azotemic osteoarthropathy. 648 93

Estrogen deficiency might increase responsiveness of bone to circulating endogenous parathormone. To explore a possible relationship between parathormone action on bone and estrogens we studied the activity of the bone isoenzyme of serum alkaline phosphatase and the urinary excretion of hydroxyproline in 16 premenopausal and 24 postmenopausal women with primary hyperparathyroidism with hyperparathyroid osteodystrophy. The postmenopausal women with primary hyperparathyroidism had the B-ALP 4.30 +/- 0.54 mukat/l, the urinary hydroxyproline excretion 205.2 +/- 22.2 mmol/mol creatinine and urinary calcium excretion 8.9 +/- 0.5 mmol/24 hours, significantly increased in comparison with the group of women with menstrual cycle and primary hyperparathyroidism who had B-ALP 2.12 +/- 0.43 mukat/l, the urinary hydroxyproline excretion 119.0 +/- 14.9 mmol/mol creatinine and urinary calcium excretion 7.7 +/- 0.4 mmol/24 hours. Evidence supporting that estrogen deficiency might increase responsiveness of bone to circulating endogenous parathormone was provided by the demonstration that postmenopausal women with primary hyperparathyroidism had increased bone turnover assessed by urinary hydroxyproline excretion and bone isoenzyme of alkaline phosphatase in comparison with the group of premenopausal women with primary hyperparathyroidism.
 ...
PMID:The activity of the bone isoenzyme of serum alkaline phosphatase and urinary hydroxyproline excretion in premenopausal and postmenopausal women with primary hyperparathyroidism. 654 Jul

During a period of 2 years, bone mineral content (BMC) was measured regularly in patients undergoing regular dialysis treatment (RDT). Low BMC values were found to be correlated to long duration of uremia, raised alkaline phosphatase activity, hyperaluminemia, hypermagnesemia, hypophosphatemia and clinical osteodystrophy. High levels of BMC loss were found among patients with relatively high initial BMC levels and severely calciopenic patients actually gained bone density during the investigation. Serum alkaline phosphatase activity and serum immunoreactive parathyroid hormone (PTH) levels were positively related to bone loss. It is suggested that the low BMC among RDT patients is caused by a predialytic loss that is arrested by entrance into a dialysis programme. Investigations using BMC or total body calcium as a measure of therapeutic effect must take account of this. The role of hypermagnesemia and hyperaluminemia remains undefined. Patients with BMC reduced below ca. 80% of normal may be candidates for treatment with active vitamin D metabolites.
 ...
PMID:Use of bone mineral content determination in the evaluation of osteodystrophy among hemodialysis patients. 662 54

In 46 patients with primary hyperparathyroidism, in 21 non-dialysed patients with advanced renal failure, and in 52 patients on hemodialysis, a significant positive correlation was found between bone isoenzyme of serum alkaline phosphatase and plasma tartrate resistant acid phosphatase. In primary hyperparathyroidism, a significant positive correlation was found between the radiological degree of osteodystrophy and the biochemical parameters of bone remodelling. After removal of the parathyroid adenoma, only the tartrate-resistant acid phosphatase decreased to normal limits. Plasma tartrate resistant acid phosphatase was most significantly influenced by serum immunoreactive parathyroid hormone levels. In chronic renal failure, bone isoenzyme of serum alkaline phosphatase was most significantly influenced by serum immunoreactive parathyroid hormone levels, by hypocalcemia and by duration of hemodialysis. The results confirm that in hyperparathyroidism the extent of the whole-body rates of bone resorption and formation are approximately equal. The biochemical parameters can be used for serial assessment of the course of the disease but are not specific for diagnosis.
 ...
PMID:Relationship of plasma tartrate resistant acid phosphatase to the bone isoenzyme of serum alkaline phosphatase in hyperparathyroidism. 662 82

The therapy of Paget's bone disease is essentially based on the use of calcitonin and diphosphonates: both drugs, if used in large doses for long periods, have shown themselves able to provoke particular side-effects. It was, therefore, decided to study the therapeutic efficacy of combined low-dosage treatment using synthetic salmon calcitonin and sodium-etidronate on a group of patients with Paget's osteodystrophy. A clear evident diminution in plasma alkaline phosphatase, hydroxyprolinuria and whole body retention (WBR) of MDP-Tc99m was observed, demonstrating a reduction of metabolic turnover in the bone. No changes in the bone mass (BMC), evaluated by bone mineral detector, were observed at the end of treatment. With this treatment the plateau effect was shown to be appreciably less than normally occurs when either calcitonin or sodium etidronate are used alone.
 ...
PMID:[Effects of the combined calcitonin and sodium etidronate therapy in Paget's disease of bone]. 680 55

Patients with end-stage renal failure develop osteodystrophy in part due to defective production of 1,25-dihydroxycholecalciferol by the kidney. We treated eight adults with chronic renal failure and osteodystrophy with 1,25-dihydroxycholecalciferol (calcitriol) for 30-44 months. Seven of these patients were also symptomatic with bone pain and/or muscle weakness. Striking amelioration of muscle weakness occurred, and bone pain was considered to be significantly improved in four of seven patients. Hypercalcemia was noted in all the patients, necessitating a reduction in the daily dose of calcitriol to a range of 0.125 to 0.5 microgram/day. While serum alkaline phosphatase fell during therapy, serum iPTH did not show any significant change. Bone mineral content improved in four patients, though it still remained below normal. Radiographic changes of osteodystrophy showed definite improvement in only three.
 ...
PMID:Long-term therapy of uremic osteodystrophy in adults with calcitriol. 689 93


<< Previous 1 2 3 4 5 6 7 8 Next >>