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)

Two cases of a craniotubular hyperostosis are presented. The radiographic features closely resemble Van Buchem disease (hyperostosis corticalis generalisata; endosteal hyperostosis, recessive type), including symmetrical and bilateral diaphyseal cortical thickening of the long and short tubular bones as well as sclerosis and thickening of the calvaria, mandible, shoulder and pelvic girdles, and thoracic cage. Unlike Van Buchem disease, no periosteal excresences are observed, alkaline phosphatase is normal, no basal foramina encroachment of the skull is present, and the genetic pattern is dominant inheritance. These cases possibly represent a separate disorder rather than a variant of Van Buchem disease.
 ...
PMID:Autosomal dominant osteosclerosis. 19 44

Paget's disease usually is found in patients past the age of 40. Early presenting symptoms include headache, deafness, tinnitus, and pain due to radicular compression. The diagnosis is confirmed by radiographic features and elevated levels of serum alkaline phosphatase and urinary hydroxyproline. Bony overgrowth results in pressure on nearby soft tissues such as the brain, spinal cord, and certain peripheral nerves. The abnormally soft quality of the calvarial bone permits distortion by the weight of the brain. Dorsal inclination of the plane of the foramen magnum and the projection of the odontoid process into the posterior fossa lead to stretching of the brain stem over the odontoid process and the ventral margin of the foramen. Obstructive hydrocephalus may result. Sarcoma of the crainial vault may develop in cases of Paget's disease. Once cervicomedullary or spinal compression has occurred, surgical decompression may be necessary. Three drugs--calcitonin, disodium etidronate, and mithramycin--have been used with some benefit in the treatment of Paget's disease.
 ...
PMID:Paget's disease and the nervous system. 21 14

Hyperostosis generalisata with striations of the bones falls within the large group of sclerotic bone dysplasias and is characterised by a marked widening of cortical bone, sclerosis of the base of the skull, and dense striations in the cancellous bone. All the bones of the skeleton, with the possible exception of the vault of the skull, may be involved to some extent. A milder form exists in which thickening of cotrical bone occurs, mainly in the long bones of the limbs and striations are absent. The disorder has never been described in the female. Apart from a slight elevation of the serum alkaline phosphatase in some patients, no significant biochemical changes and no impairment of intelligence, growth, or life expectancy have been found. The diagnosis is made entirely on its radiological features. Its occurrence in four members, covering two generations, and three members, covering three generations, of two related families is described. A possible relationship to progressive diaphyseal dysplasia (Camurati--Englemann disease) is discussed.
 ...
PMID:Hyperostosis generalisata with striations of the bones, a further report in two related families. 42 29

The clinical and biochemical features of four adults with Engelmann's disease (Camurati-Engelmann disease; progressive diaphyseal dysplasia) are presented. One young patient, with a particularly severe form of the disease, is discussed in detail. Biochemical abnormalities were found in three of the patients. In two of them, one with localized hyperostosis and one with generalized bone disease, the only changes were an increase in the plasma alkaline phosphatase and urinary total hydroxyproline excretion. The most severely affected patients, who had had progressive and generalized bone disease from age two and a half years, also had persistent hypocalcaemia and hyperphosphataemia, a positive calcium balance, and a very low urine calcium excretion. It is suggested that some patients with Engelmann's disease may have a previously unrecognized metabolic disorder associated with increased retention of calcium and excessive bone formation. The possible role of abnormal phosphate metabolism in this increased formation of bone, and the relationship of Engelmann's disease to other hyperostoses, are discussed.
 ...
PMID:Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia). 86 79

We report on a 43-year-old patient with short stature (hyposomia), allegedly the result of vitamin-D-resistant rickets, previously treated for ankylosing spondylitis. In addition, a uricostatic drug therapy was also necessary because of hyperuricemia with gout attacks. Further examinations revealed the accurate diagnosis: Rathbun's disease. Hypophosphatasia is a hereditary disorder characterized by a deficiency of liver/bone/kidney alkaline phosphatase activity in serum and tissues with defective bone mineralization, bone deformities, short stature, early loss of teeth, and craniosynostosis. In our patient radiographic features were spinal hyperostosis, but with syndesmophytes, chondrocalcinosis of peripheral joints and intervertebral discs, calcific periarthritis and premature closure of skull sutures. Curved ribs and short stature were suggestive of rickets. The aim of this case report is to demonstrate the close relations between hypophosphatasia and spondylitis ankylosans in respect to radiology and clinical symptoms.
 ...
PMID:[Rathbun syndrome (hypophosphatasia). Clinical aspects: dwarfism and Bechterew symptoms]. 179 58

Radiographic skeletal examinations were performed in sixteen adult patients who had received etretinate therapy for various keratinizing disorders (psoriasis vulgaris 13, pustular psoriasis 2, pustulosis palmoplantaris 1) over periods ranging from 0.7 to 4.5 years. The total dose of etretinate ranged from 5.1 to 36.5 g. In these patients, the frequency and the degree of skeletal alterations including hyperostosis, calcification of ligaments and periosteal thickening was found to be higher than that in age- and -sex matched, nontreated controls. Furthermore, almost all of these patients were asymptomatic and revealed no abnormalities in laboratory data, including levels of serum calcium, inorganic phosphate and alkaline phosphatase. It is necessary for patients who are undergoing long-term etretinate therapy to be examined regularly for such skeletal abnormalities.
 ...
PMID:[Skeletal alterations associated with long-term etretinate therapy]. 189 Jul 51

Heterotopic ossification (HO) status post total hip arthroplasty is a relatively common phenomenon with clinical significance in approximately 5% of all cases. Risk factors appear to include males with osteoarthritis, particularly with marked osteophyte formation, and those with ankylosing spondylitis or diffuse idiopathic spinal hyperostosis. Previous hip surgery, or previous ectopic bone in the same or contralateral hip are definite predisposing factors. Although meticulous surgical technique is critical in any operation, the suggestions that carelessness in dissection or tissue handling, or inadequate hemostasis or debridement of devitalized tissues or of bony debris can cause HO are unproved. Similarly, there is no solid evidence that the surgical approach, prosthesis type, use of trochanteric osteotomy, or the presence of cement influence the incidence of HO. Whether postoperative complications such as infection, dislocation, or hematoma are causally related is speculative; and the role of alkaline phosphatase in predicting those at risk remains controversial. Despite the number of studies designed to elucidate risk factors, critical analysis suggests that this question remains largely unanswered and that there is a need for well-designed, prospective, controlled studies to determine which hip arthroplasty patients are at risk. Treatment of established HO depends upon recognizing the "maturity" of the ectopic bone, which can best be determined by serial scans but is approximately one year postop. Excision followed by prompt initiation of radiotherapy or of one of several reported nonsteroidal anti-inflammatory drug protocols will produce successful results in a majority of cases. Prophylaxis depends upon recognizing those at significant risk and initiating the appropriate protocol within the first few postoperative days.
 ...
PMID:A critical review. Heterotopic ossification in total hip replacement. 255 27

The first reported Spanish family with autosomal dominant endosteal hyperostosis is presented and two members in two different generations studied. Neurological involvement with sensorineural hearing loss, chronic intracranial hypertension, and mild corticospinal tract abnormalities were found in one case with radiological evidence of progressive bone disease at follow-up. In addition to mild hydrocephalus, CT-scan of the head documented a reduction in size of the posterior fossa and encroachment of the foramen magnum. A pattern of selective increase in the bone fraction of serum alkaline phosphatase was also recorded. This family supports the view that severe forms of endosteal hyperostosis are not confined to the autosomal recessive variant, as individuals with the autosomal dominant form may also show relentless progression to neurological involvement during adulthood.
 ...
PMID:Autosomal dominant endosteal hyperostosis. Report of a Spanish family with neurological involvement. 356 43

The authors report on 8 patients with the dominant type of endosteal hyperostosis (Worth's disease), found in the same kindred over 3 generations. Three were males, five females, from 5 to 49 years of age. Major radiographic features were an increased density of bones of the skull and spine, with thickening of the diaphyseal cortex of tubular bones, without any change in remodeling. Seven patients were almost asymptomatic. A decompressive craniotomy had been performed in one, who showed a compression of the 2nd, 5th and 8th cranial nerves. Blood alkaline phosphatase was normal. The bone density increases with age, but in spite of this the clinical course if milder than in recessive type of generalized cortical hyperostosis (Van Buchem's disease, as reported in the 35 cases of endosteal hyperostosis (dominant type) previously described.
 ...
PMID:[Endosteal hyperostosis with dominant transmission. Description of 8 cases in 3 generations of the same nuclear family]. 704 38

We have examined the alkaline phosphatase (AP) activity of primary calvaria-derived osteoblast-like cells from the twy (tip-toe walking Yoshimura) and normal ICR control mouse. The twy mouse displays elevated osseous formation particularly in the spine, and the pathophysiological features resemble that of human ankylosing spinal hyperostosis. In the proliferative stage of cultured bone cells, parathyroid hormone (PTH) stimulation induced the elevation of AP activity of both twy and ICR mouse-derived cells. When they reached confluence, the AP activity of ICR mouse-derived cells ceased to increase with PTH stimulation. The twy mouse-derived cells, however, continued to respond to PTH, with the enzyme activity increasing even in the confluent, stationary stage. PTH stimulation also increased the intracellular cAMP content of twy mouse-derived cells but it did not influence that of ICR mouse-derived cells in the stationary stage. Moreover, stimulation with dibutyryl cAMP, but not with phorbol myristate acetate, increased the AP activity of both twy and ICR-derived bone cells irrespective of culture conditions, either in the proliferative or in the confluent stage. These data suggest that the protein kinase A-mediated pathway plays a pivotal role in bone cells with PTH stimulation, and that the uninhibited AP activity observed in twy mouse-derived bone cells might be due to some deviating process between the PTH ligand/receptor interaction and cAMP generation.
 ...
PMID:Elevation of alkaline phosphatase activity induced by parathyroid hormone in osteoblast-like cells from the spinal hyperostotic mouse TWY (twy/twy). 773 22


1 2 3 Next >>