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)

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.
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PMID:Paget's disease and the nervous system. 21 14

We studied a family with autosomal dominant osteosclerosis associated with familial spinal canal stenosis. The propositus, a 44-year-old Japanese woman, had a 9-month history of occipitalgia and left tinnitus, and also had a 2-month history of pain and numbness of the right upper limb. Radiographic skeletal survey showed osteosclerotic changes in the neurocranium, diaphysis of the long bone, mandible, shoulder, clavicle, and ribs. Serum alkaline phosphatase was normal, and no periosteal excrescences were seen. The inheritance pattern was autosomal dominant. The propositus and her daughter, both with severe osteosclerosis, showed spinal canal stenosis, but her son, whose osteosclerosis was moderate, did not. This is the first report of autosomal dominant osteosclerosis associated with familial spinal canal stenosis.
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PMID:Autosomal dominant osteosclerosis associated with familial spinal canal stenosis. 370 68

Paget's disease of the bone is a chronic, focal skeletal disease characterized by bone pain and deformity, pathological fractures and neurological symptoms such as headache, hearing loss and tinnitus, etc. The frequency of the disease increases in later ages. Viral and genetical factors play a role in the etiology. The majority of cases are asymptomatic. It is often diagnosed with an incidental finding on radiography or with an unexpected high serum alkaline phosphatase level. Bone fractures or neurological complications can negatively affect the quality of life. Early diagnosis and treatment are thus very important. Bisphosphonates are the most frequently used medication in the treatment. We present a case who sought medical help because of headache and was diagnosed as Paget's disease. Neurological complications and the diagnosis and treatment of Paget's disease are reviewed in the literature.
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PMID:[Headache case that responded to alendronate treatment in Paget's disease]. 2286 21

Although Paget's disease of bone (PDB) is common in western countries, it is extremely rare in Asian ones including Japan. Recently, oral risedronate (17.5 mg once daily) was approved in Japan as a treatment of PDB besides calcitonin and etidronate. However, there are few data regarding the efficacy of this agent, dose for patients with PDB in Japan, or the durability of its effect. The purpose of this study was to evaluate the midterm outcome of oral risedronate (17.5 mg once daily) for patients with PDB in Japan. Seventeen patients with PDB were treated with risedronate (17.5 mg once daily) for 8 weeks. Efficacy and its durability were accessed based on serum total alkaline phosphatase (ALP) and symptoms. Risedronate effectively suppressed bone turnover evaluated with serum total ALP in all patients. In 8 of 10 patients with bone pain, risedronate reduced the pain. On the other hand, tinnitus and hearing loss did not disappear but somewhat improved. None of the patients suffered severe complications. Seven of 17 patients required readministration of oral bisphosphonate (risedronate, six; alendronate, one) due to elevated total ALP at 27 months (mean ranging from 9 to 39 months) after the initial administration of risedronate. Treatment of oral risedronate (17.5 mg once daily) for 8 weeks is safe and effective for patients with PDB in Japan. However, the durability of its effect is limited in some patients.
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PMID:Midterm outcome of risedronate therapy for patients with Paget's disease of bone in the central part of Japan. 2313 82