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)

Hypertrophic osteoarthropathy and hypophosphatemic osteomalacia are both associated with neoplasm and unusual clinical syndromes. Although the etiologies of these conditions are unknown, their clinical courses are interesting, so we are reporting two cases of these conditions separately. Case 1: A 20-year-old man had an osteogenic sarcoma originating in the 2nd thoracic vertebra which was developing in the mediastinal region. He had complained of numbness and swelling in the left arm and of clubbing of the fingers of both hands. A chest radiograph showed a billiard-ball-sized, round opacity in the left upper mediastinal region. Periosteal new bone formation was demonstrated symmetrically in both humeri, radii, ulnae, femurs, tibiae, fibulae and metacarpals. Case 2: A 30-year-old man had complained of lower back, hip, knee and ankle pain and muscle weakness of five years' duration and was admitted to the National Yokosuka Hospital. Surum phosphorus was 0.7 mg/dl, alkaline phosphatase was 24.9 K.A. and glucosuria was noted. He had a fibrous xanthoma on the right thigh, and after removal of the tumor, his symptoms improved dramatically and pertinent laboratory data returned to normal. However, ossification of the ligaments of the spine subsequently developed.
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PMID:[Hypertrophic osteoarthropathy and hypophosphatemic osteomalacia associated with tumor]. 345 94

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

We report a 65-year-old woman with HAM who showed rapid progression of the clinical symptoms. The initial symptom was lumbago and she became unable to walk within 4 months after the onset of the lumbago. When seen on admission, she had flaccid paraplegia and areflexia was seen in the lower extremities with positive Babinski and Chaddock reflexes. She had numbness below the level of the navel, vibratory sensation was decreased in both lower limbs, and there was a hyperesthesic zone at the tenth thoracic vertebral level. She had a difficulty in urination and defecation. Laboratory examination revealed elevated anti-HTLV-I antibody titers both in serum (4,096x by PA method) and in cerebrospinal fluid (CSF) (4,096x). The levels of IgG and neopterin in CSF were also increased to 16.6 mg/dl (normal: < 5 mg/dl) and 360.3 pmol/ml (normal: < 30 pmol/ml), respectively. HTLV-I messenger RNA positive cells were detected in 0.1% to 0.01% of cells in CSF by in situ hybridization using an oligonucleotide probe labelled with alkaline phosphatase. Spinal cord MRI detected neither spinal cord compression nor vascular diseases. She was treated with 1,000 mg methylprednisolone for 3 days intravenously, followed by 60 mg oral prednisolone therapy. In several days after receiving the treatments, her muscle tonus became spastic and deep tendon reflexes in the legs became brisk. The hyperesthesia at the tenth thoracic vertebral level and numbness below the level of the navel were also gradually improved. Subsequently, her clinical features were consistant with those of the typical HAM. Therefore, the patient was diagnosed as rapidly progressive HAM. The initial phase of rapidly progressive HAM patients had been described only from clinical history. These patients had common characteristic clinical features, such as older age at onset, relatively severe motor dysfunction, high titers of anti-HTLV-I antibody in CSF, and increased levels of neopterin and IgG in CSF, when compared with those of other HAM patients. The clinical course and laboratory findings in the present patient were compatible with those in the previous cases reported as rapidly progressive HAM. This patient showed flaccid paraplegia and areflexia which have rarely been seen in HAM patients. However, these symptoms were changed to spastic and hyperactive after prednisolone therapy. We speculate that inflammation in the spinal cord in this patient was severe enough to spread to the dorsal root, and disturbed the afferent pathway from the peripheral to the central nervous system. This inflammatory reaction might be suppressed by prednisolone to facilitate the recovery of the afferent pathway, which led to the typical clinical symptoms of HAM.
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PMID:[A case of rapidly progressive HTLV-I-associated myelopathy (HAM)]. 943 Sep 94

Paget's disease of bone is rare in Asia. We report a case of Paget's disease in a 58-year-old Taiwanese man who was admitted with a 3-month history of bilateral numbness in the buttock region. Laboratory data disclosed an elevated serum alkaline phosphatase level (510 U/L). Plain radiographs of the lumbar spine showed generalized increased density at the third lumbar vertebra, associated with cortical thickening, loss of cortico-cancellous definition, and increased anteroposterior diameter. The T1-weighted magnetic resonance image of the lumbar spine showed diffuse, heterogeneous low signal intensity at the third lumbar vertebral body, pedicle, laminae, and spinal process; these areas showed mixed high and low signal intensity on the T2-weighted image. Technetium-99m bone scan revealed abnormal uptake in the involved vertebra. Histologic examination of the third lumbar spinal process confirmed the diagnosis of Paget's disease of bone. The patient remained well during a follow-up period of 6 months.
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PMID:Paget's disease of the bone: a case report. 1139 3

We report the first case of primary biliary cirrhosis (PBC) accompanied by fibrinogen storage disease (FSD). A 50-year-old Japanese woman had been treated for numbness of her right-side extremities for 5 years. Mildly elevated serum levels of alkaline phosphatase and gamma-glutamyl transferase were detected. The titers of both anti-mitochondrial (x 320) and anti-mitochondrial M2 (x 84) antibodies were elevated. The biopsied liver specimen showed mononuclear cell infiltrate densely encircling the bile ducts, poorly developed epithelioid cell granuloma, and loss of integrity of bile duct organization, which permitted a diagnosis of stage I PBC according to Scheuer's histologic classification. In addition, round to oval, eosinophilic, homogenous intracytoplasmic inclusions, several microm in average size, with a surrounding halo were found in the vast majority of hepatocytes. These inclusions were negative for the periodic acid-Schiff reaction. In immunohistochemistry, the inclusions were positive for fibrinogen and complement C3c, but not for HBs antigen and alpha1-antitrypsin. These findings were identical to FSD. To investigate the mechanism(s) of abnormal fibrinogen storage, immunostaining for heat shock protein 70 and ubiquitin was performed. The former was detected in all intracytoplasmic inclusions, whereas the latter was detected in only some inclusions, suggesting a partial loss of ubiquitin expression.
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PMID:A case of primary biliary cirrhosis accompanied with fibrinogen storage disease. 1599 42

A 16-year-old boy with transfusion-dependent thalassemia major presented with tetany, numbness, bone pain, short stature and pubertal delay. His height SDS score=-2.6, BMI=22.4, spleen was palpable 5 cm and liver 7 cm below the costal margins. The cardio-vascular examination was normal. Laboratory investigations showed a hemoglobin level (8 g/dL), hypocalcemia, hyperphosphatemia and elevated alkaline phosphatase (ALP) with serum 25-OH D below 3 ng/ml and a normal magnesium level. Serum parathyroid hormone (PTH) level was lower (21 pg/mL; normal 16-70 pg/mL) than expected for the degree of hypocalcemia. Serum ferritin concentration was 4442 ug/L, insulin-like growth factor I (IGF-I) was 31 microg/L (normal 122- 286 microg/L), free T4 was 13.1 microg/dL, TSH 1.2 mIU/ml. These results revealed a combined vitamin D-parathyroid defect. Peak growth hormone (GH) responses to clonidine and glucagon tests were 7.6 ng/ml and 6.2 ng/ml, respectively. Serum LH and FSH concentrations were below 0.5 U/L and testosterone was below 10 ng/dl. Radiographs revealed osteopenia of the phalanges and long bones and DXA scanning revealed low BMD Z-score of the femoral neck and 4th and 5th lumbar spines. MRI showed evidence of hemosiderin deposition in the pituitary. The patient was started on oral daily calcium carbonate (1500 mg elemental calcium) and vitamin D2 (calciferol) 25,000 IU/day and intensive iron chelation therapy. A low dose of IM testosterone enanthate (1 mg/kg/month) was injected for 6 months. Follow-up after 4, 8 and 12 months revealed normal Ca, PO4, ALP, and 25-OH D concentrations and disappearance of spasms and numbness and increased growth velocity. In conclusion, investigating calcium homeostasis at regular intervals and early management of any abnormality can preclude the occurrence of complications.
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PMID:An adolescent boy with thalassemia major presenting with bone pain, numbness, tetanic contractions and growth and pubertal delay: panhypopituitarism and combined vitamin D and parathyroid defects. 1933 71

Cinacalcet, an allosteric modulator of a calcium (Ca)-sensing receptor, significantly suppresses parathyroid hormone (PTH) secretion and bone turnover rate in chronic hemodialysis (HD) patients with secondary hyperparathyroidism (SHPT). In this study, bone metabolism after cinacalcet treatment was examined, because hungry bone syndrome is sometimes experienced after parathyroidectomy in severe SHPT. We conducted a prospective observational study in 17 HD patients with SHPT. Cinacalcet was started at 25 mg/day, and the dose was increased step by step based on serum calcium level. A significant decrease in serum Ca and intact PTH concentration was found within 2 weeks. Tartrate-resistant acid phosphatase 5b, a good bone resorption marker, was significantly decreased at week 2 of the study. Serum bone alkaline phosphatase, a marker of bone formation, was increased at week 2 compared with the basal level. It became, however, gradually decreased until week 14. Only one patient whose bone turnover was considerably high had a mild numbness feeling. These results suggest that cinacalcet treatment might transiently accelerate bone formation with rapid suppression of bone resorption. This uncoupling could be involved in a mechanism by which cinacalcet decreases serum Ca level.
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PMID:Bone metabolism after cinacalcet administration in patients with secondary hyperparathyroidism. 1954 62

Spontaneous degeneration of sarcomatosis of fibrous dysplasia is a rare phenomenon in adolescence. Fibrous dysplasia is often a deforming and devastating condition that begins in childhood and accounts for approximately 7.5% of the benign bone neoplasms. Approximately 50% to 100% of patients with polyostotic disease and 10% with monostotic disease have craniofacial involvement. This report is about a 16-year-old adolescent boy who had rapid facial mass growth and diplopia at the time of his referral to our center. The patient had been diagnosed with fibrous dysplasia a year earlier, and since the first diagnosis, he was submitted to only 1 surgical intervention, which had been followed by recurrence. The main clinical findings were a bilateral zygomatic mass, saddling of the nasal dorsum, diplopia, superior and inferior gaze, and numbness in the right inferior orbital nerve. The patient had a high level of serum alkaline phosphatase. The diagnosis of osteosarcoma was established by biopsy, and the patient underwent surgical treatment. His postsurgery results were good, and he did not experience a relapse until 1 year after surgery. Unfortunately, 6 months after the recurrence of his condition, he died of uncontrollable local spread.
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PMID:Spontaneous conversion of fibrous dysplasia into osteosarcoma. 2155 13