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)

We report the case of a 45-year-old woman who presented with a six-year history of diffuse polyarthralgia responsible for major disability. She reported bilateral symmetric arthralgia in nearly every joint, as well as back pain. Muscle wasting predominating in the roots of the limbs was found. Laboratory tests showed hypocalcemia, severe hypophosphatemia, hypokalemia, alkaline phosphatase elevation, aminoaciduria, and hyperphosphaturia, with no glycosuria. Radiographs disclosed osteolysis of the pubic symphysis, multiple pelvic fractures, vertebral compression fractures, and diffuse demineralization. A bone scan visualized symmetric foci of hyperactivity in nearly all joints and fracture sites. Dramatic improvements in clinical and radiographic abnormalities were noted after six months of treatment with phosphate and calcitriol. This is a case of incomplete Fanconi syndrome, with no glycosuria. The clinical presentation of Fanconi syndrome can be misleading. Fanconi syndrome should be borne in mind as a possible cause of polyarthralgia to avoid diagnostic delay, which in our patient led to a picture of pseudomyopathy with multiple fractures.
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PMID:Bilateral symmetric polyarthralgia revealing Fanconi's syndrome. 1202 14

A 64-year-old man suffering polyarthralgia and bone pain was referred to our hospital. Renal dysfunction, hypophosphatemia and increased levels of bone alkaline phosphatase were found. The patient's serum creatinine level had gradually increased after the initiation of adefovir dipivoxil administration for hepatitis B. In agreement with multifocal uptakes of bone scintigraphy, iliac bone biopsy revealed an abnormal increase in osteoid tissues. Reducing the dose of adefovir and initiating the administration of eldecalcitol were effective for reducing proteinuria and glucosuria, and for ameliorating bone pain with an increase in serum phosphate level. This case first showed a clinical course of hypophosphatemic osteomalacia caused by secondary Fanconi's syndrome for 8 years after adefovir administration. Early diagnosis is important for the reversibility of bone damage and for a better renal prognosis.
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PMID:Long-term observation of osteomalacia caused by adefovir-induced Fanconi's syndrome. 2455 90

Tumour induced osteomalacia (TIO) is a paraneoplastic syndrome characterized by renal phosphate wasting and hypophosphatemic osteomalacia, caused by FGF-23 (Fibroblast growth factor-23) producing mesenchymal tumours. Here, we report the case of a 40 year old lady referred by her family physician for multiple joint pains of 2 years duration. There was no evidence of inflammatory arthritis. Biochemical investigations revealed low phosphorus, with raised alkaline phosphatase and high levels of FGF-23. As a TIO was considered likely, functional imaging with a DOTATATE PET scan was done, which revealed a DOTA avid lesion in the right foot. Following surgical excision of the tumour, there was significant relief in symptoms and gradual recovery of phosphate to normal levels. It is relevant and important for family physicians as in subjects with symptom like polyarthralgia, a simple measurement of analytes like phosphate, calcium and alkaline phosphatase in primary care setting will help to arrive at a cause and referral for further evaluation as this condition is potentially treatable.
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PMID:An uncommon cause of polyarthralgia. 3119 64

A 68-year-old gentleman presented to hepatology department with asymptomatic year-long history of stably deranged liver function tests. His peak alkaline phosphatase (ALP), was 828 with alanine transaminase (ALT) of 141. Full liver workup was negative; hence, a liver biopsy was organised, which confirmed giant cell hepatitis (GCH). A computed tomography (CT) scan revealed non-specific interstitial pneumonitis (NSIP) pattern interstitial lung disease supported by lung function tests. Antibody testing showed strongly positive antinuclear antibody (ANA) with anti-polymyositis/scleroderma (anti-PM-SCL) antibody. Clinical picture was in keeping with likely undifferentiated connective tissue disease (UCTD) with polyarthralgia, early morning stiffness, Raynaud's and nailfold infarcts with capillaritis on nail bed examination. Further testing confirmed triple-positive antiphospholipid antibodies twice 12 weeks apart (immunoglobulin M [IgM] anti beta-2 glycoprotein antibodies, lupus anticoagulant and IgM anticardiolipin antibody). He was treated with mycophenolate and hydroxychloroquine with resolution of symptoms. Giant cell hepatitis is uncommon, with only 100 cases reported worldwide. To our knowledge, this is the only report of GCH in the context of UCTD, highlighting the significance of careful evaluation of liver disease overlap and the successful role of mycophenolate mofetil (MMF) in this setting.
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PMID:Giant Cell Hepatitis - A Rare Association with Connective Tissue Disease. 3246 74