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

An unselected series of 285 patients with Paget's disease of bone has been studied, of whom 54% were male and 46% female. The youngest was aged 25 years at diagnosis and the oldest 95. Of the patients 109 (38-2%) had never suffered serious symptoms. These diagnosed cases certainly represent only a small proportion, perhaps 10-15%, of all those with Paget's disease in the community from which they came. Few of the undiagnosed cases are likely to be suffering from serious symptoms or complications so it is apparent that the majority (probably over 80 or 90%) of those with the pathological state are relatively untroubled by their disease. The most common complication (8-8%) was pathological fracture. The fracture involved the shaft of the femur in 62% occurring in this section of the bone almost seven times more frequently in the patients with Paget's disease than in the general population. Because of the large number of undiagnosed cases in the community, the true incidence of pathological fracture and of sarcoma of bone in all patients with Paget's disease is probably only 1% and 0-1% respectively. Simultaneous estimates of the serum alkaline phosphatase and ESR were made in 128 of the patients. It was shown that the ESR is valueless as a measure of activity or extent of the disease. In many patients the level of the serum alkaline phosphatase changed very little over periods of several years. A history of the disease in one or more close relatives was found in three families, a lower incidence than was expected from previously recorded studies. The ABO blood groups were determined in 215 of the patients; 50% were of group A compared with 46% in a control group. The difference in distribution of blood groups in the two series of subjects is small and well within chance limits. The secretor status of 138 patients was investigated; 77% were secretors. This is similar to the proportion in control series. There is evidence to suggest that the degree of severity of Paget's disease does not vary, once it has developed in any particular individual, and that the more severe and extensive forms may have a stronger genetic basis.
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PMID:Paget's disease of bone--a clinical and genetic study. 87 11

Nine out of 24 patients on chronic hemodialysis were found to have biochemical, radiologic and bone biopsy evidence of moderate to severe bone disease. Two patients had bone pain and muscle weakness, 2 had pseudofractures, and one patient had a pathologic fracture of the neck of the femur. Eight patients were treated with dihydrotachysterol (D.H.T.), 0.25 to 0.37 mg/day initially. Four patients required doses between 0.5 and 1.0 mg daily. The alkaline phosphatase decreased in all patients, returning to normal in 6 patients. The symptoms of bone pain and muscle weakness resolved, and the pseudofractures healed. Repeat bone biopsies were performed in 6 patients 12 mos or more after treatment with D.H.T. The osteoid area fell from 29.6 +/- 22.8 to 11.5 +/- 7.5% (p less than 0.025). Resorptive surface decreased in all patients. D.H.T., in doses of up to 1.0 mg/day, is effective in the treatment of both the osteitis fibrosa and the osteomalacic component of bone disease in patients on hemodialysis.
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PMID:Treatment of bone disease in patients on chronic hemodialysis with dihydrotachysterol. 95 78

Case report of a 18 year old boy with short stature, microceophaly, mental retardation and multiple dysmorphic signs. At the age of 9 years a severe generalised osteoporosis was discovered. A pathological fracture of the greenwoor type healed without proper callus formation. The osteoporosis persists without signs of either deterioration or improvement. The serum phosphorus is slightly decreased, while serum calcium, alkaline phosphatase and renal functions are normal. The main biochemical finding is a constant hyperclaciuria of 6-13 mg/kg/24 h, which can be corrected by treatment with oral sodium phosphate. No other chronic disease could be found which would explain the bone disease. The complex disease of this boy does not fit into the known pictures of osteogenesis imperfecta, idiopathic juvenile osteoporosis or of idiopathic hypercalciuria, and might therefore be another type of demineralising bone disease. It is suggested, that the cause might be an impairment of the calcium fixation of collagen fibres during desmal ossification.
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PMID:[Uncommon form of idiopathic osteoporosis with hypercalciuria, growth retardation and mental retardation]. 115 69

Familial expansile osteolysis (FEO) is a unique bone dysplasia, which has, over five generations, affected 42 members of a Northern Ireland family. The disease follows a classic autosomal dominant pattern of inheritance. The condition is distinct enough in its clinical features and natural history to be recognized as a new and unique disease. There are both general and focal skeletal changes, the latter having a predominantly peripheral distribution and an onset from the second decade. Progressive osteoclastic resorption accompanied by medullary expansion leads to severe and painful disabling deformities with a tendency to pathologic fracture. Most affected members of the family have an associated early-onset deafness and loss of dentition as a result of unique middle ear and dental abnormalities. The serum alkaline phosphatase and urinary hydroxyproline are elevated to a variable degree, whereas other biochemical indices are normal. The response of the disease to a therapeutic trial using parenteral dichloro-methylene-diphosphonate (dichloro-MDP) produced an initial rapid biochemical response, which was not sustained.
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PMID:Familial expansile osteolysis. 253 18

The clinical usefulness of alkaline phosphatase (ALP) and lactate dehydrogenase (LDH) levels in serum and pathogenetic mechanism of hypoalbuminemia and hypocholesterolemia in multiple myeloma (MM) were investigated. In cases of MM with a history of pathological fracture, the level of serum ALP was significantly higher than normal. Thus, elevated ALP in MM patients may be an indicator of the occurrence of a pathological fracture within the past 2 months. The levels of serum LDH in about 80% of the MM patients were within normal limits despite the presence of a malignant tumor. These patients showed a normal pattern of isoenzymes and more mature types according to the Greipp classification. In contrasts, the patients with elevated serum levels of LDH showed the tumor pattern of the isoenzymes and the plasmablastic type. The total cholesterol concentration was correlated with the total protein levels and the serum cholinesterase. These findings were the same as those in patients with nephrotic syndrome and polyclonal hypergammaglobulinemia without liver dysfunction. These results suggest that the decreased cholesterol in MM is due to a reduction in the synthesis of albumin in the liver.
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PMID:Some problems in the laboratory findings in multiple myeloma. 269 42

Malignant fibrous histiocytoma is a rare primary bone tumor, and there have been conflicting reports on its grades of malignancy. We are describing the cases of eight patients who were seen between 1977 and 1982. Four had pulmonary metastases and five, involvement of the lymph nodes. Five patients had a high level of serum alkaline phosphatase. None of the patients had a pathological fracture, an associated bone infarct, or Paget's disease. Seven of the eight patients died within one year after diagnosis.
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PMID:Malignant fibrous histiocytoma of bone. 298 79

We report 40 cases in one family of an autosomal dominant bone dysplasia, which, though similar in some aspects to Paget's disease, seems unique in some features and in its natural history. The disease shows both general and focal skeletal changes, the latter being mainly in the limbs with an onset from the second decade. Progressive osteoclastic resorption is accompanied by medullary expansion which leads to pain, severe deformity and a tendency to pathological fracture. The serum alkaline phosphatase and urinary hydroxyproline are variably elevated, while other biochemical indices are normal. Most patients had an associated deafness of early onset and loss of dentition. No previous description of this disease has been found in the literature.
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PMID:Familial expansile osteolysis. A new dysplasia. 334 99

Malignant fibrous histocytomas (MFHs) were induced by a single injection of 4-hydroxyaminoquinoline 1-oxide (4-HAQO) into periosseous tissue of the tibia or by inserting solid 4-HAQO into the bone marrow of the tibia of male Fischer 344 rats. Periosseous MFHs were induced by doses of 2 mg and 4 mg of 4-HAQO per rat in three of 13 (23%) rats and nine of 13 (69%) rats, respectively, at 18 to 27 weeks after treatment. Bone MFHs were induced by doses of 2 mg, 4 mg, and 8 mg of 4-HAQO per rat in one of 15 (7%) rats, 11 of 18 (61%) rats, and 12 of 14 (86%) rats, respectively, after 18 to 29 weeks. Radiologic examination of bone MFH revealed bone destruction with or without a periosteal reaction, pathologic fracture, and tumor invasion into periosseous soft tissue. The serum alkaline phosphatase levels were elevated in rats with bone MFHs. Histologically, these MFHs were divided into fibrous, giant cell, myxoid, and inflammatory types. The incidence of fibrous MFHs was highest. Lung and inguinal and/or retroperitoneal lymph node metastases were observed in some rats, and these were of the fibrous type. These MFHs were quite similar to those in humans histologically and electron microscopically. This work establishes an animal model for studying the pathogenesis of bone MFH.
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PMID:Experimental studies on malignant fibrous histiocytomas in rats. I. Production of malignant fibrous histiocytomas by 4-hydroxyaminoquinoline 1-oxide in bone of Fischer 344 strain rats. 629 21

Ethane-I-hydroxy-I,I-diphosphonate (EHDP) 5 mg/kg body weight/day was administered to a patient suffering from Paget's disease of bone. After 150 days of treatment, when the plasma alkaline phosphatase was 40% of initial, he suffered a pathologic fracture of his Pagetic right patella, which was found to have osteomalacia of extreme severity. An iliac crest bone biopsy, following double tetracycline labels, also showed severe osteomalacia of Pagetic bone. Osteoclast acid phosphatase activity was reduced, as occurs in diphosphonate-treated rats. The patient's history included two previous pathologic fractures of Pagetic bone and unusual sensitivity to EHDP. It might be prudent to perform needle bone biopsy in order to exclude osteomalacia in EHDP-treated patients with these clinical manifestations.
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PMID:Pathologic fracture due to severe osteomalacia following low-dose diphosphonate treatment of Paget's disease of bone. 641 43

The hemodialysis unit at Columbia, South Carolina, opened in April, 1974. By June of 1977, 7 patients had died from dialysis encephalopathy, and 16 of the 51 surviving patients showed speech disorders, fits, and myoclonic jerks. Pathologic fractures were seen in 22 patients. Bone histomorphometry showed severe osteomalacia with minimal, if any, osteitis fibrosa, and serum alkaline phosphatase activity was normal. The mean serum aluminum concentration in 33 random patients was elevated at 83.5 microgram/liter (control group, 13.9 microgram/liter, P less than 0.001). The mean bone aluminum concentration in 4 patients who died from this syndrome was 307 ppm of bone ash (normal, less than 10 ppm). Dialysis fluid aluminum was high at 140 microgram/liter. Purification of the dialysis fluid with a water softener, reverse osmosis and a deionizer and abandoning extra-strength Basaljel resulted in a notable clinical and EEG improvement. None of 81 new patients who started hemodialysis between July of 1977 and July of 1979 after the change in treatment have developed any such symptoms. A syndrome of hemodialysis encephalopathy accompanied by pathologic osteomalacic fractures is described. Recovery is possible. The syndrome was eradicated after purification of the dialysis fluid.
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PMID:Hemodialysis encephalopathy with osteomalacic fractures and muscle weakness. 721 57


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