Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01889 (ankylosing spondylitis)
5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of juvenile spondyloarthritis (JSA) is rarely entertained in young children who present with back and leg pain. We present a case of a 6-year-old male who presented with a 3-year history of severe back and leg pain and a positive Gower's sign, and was given a presumed diagnosis of muscular dystrophy. Presenting serologic evaluation included a mildly elevated sedimentation rate and C-reactive protein (CRP). Computed tomography of the pelvis demonstrated large erosions affecting both sacro-iliac joints. Despite the unusually young age of this patient, ankylosing spondylitis seemed the most plausible diagnosis. Following rheumatological evaluation and treatment for JSA, he showed significant clinical improvement. His disease, however, has not entirely remitted with signs of enthesitis at the Achilles tendon and knees. We present this case to illustrate that JSA could account for symptoms at an early age and not considering it could lead to multiple medical visits and diagnoses. To our knowledge, based on a search of the World literature, this would appear to be the youngest case of JSA reported with demonstrable severe sacroiliitis.
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PMID:Spondyloarthropathy presenting at a young age: case report and review. 1671 45

A 50-year-old man without family history of metabolic bone disease was referred to our hospital with a 5-year history of progressively worsening spinal and bilateral diffuse leg pain and proximal muscle weakness. Two years before admission, he was diagnosed as ankylosing spondylitis by a rheumatologist and was maintained on low-dose prednisone therapy without benefit. He developed progressive spinal and thoracic deformities, resulting in a 10 cm loss in height in the preceding 2 years. On physical examination, marked thoracic kyphosis and pectus carinatum was noted. Plain radiograph revealed pseudofracture in the right femoral neck. Laboratory findings showed a normal level of serum calcium, elevated level of serum alkaline phosphatase and inappropriately increased urinary phosphate excretion despite extreme hypophosphatemia. He was diagnosed as adult-onset hypophosphatemic osteomalacia caused by renal phosphate wasting. Serum fibroblast growth factor 23 was the upper limit of normal despite extreme hypophosphatemia and no neoplastic lesion potentially inducing hypophosphatemic osteomalacia could be identified in a thorough search including imaging studies of his entire body. Oral administration of phosphate and activated vitamin D together with dipyridamole relieved the persistent pain and weakness, and he became fully ambulatory.
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PMID:Sporadic adult-onset hypophosphatemic osteomalacia caused by excessive action of fibroblast growth factor 23. 1831 Sep 82

Arachnoid ossificans is a rare type of chronic arachnoiditis characterised by the presence of calcification or ossification of the dura and arachnoid. There are a few reports of these findings in relation to various disease entities, but only one case has been reported in relation to ankylosing spondylitis. We describe a 76-year-old man of ankylosing spondylitis with arachnoiditis ossificans, who has suffered from low back pain and neuropathic leg pain.
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PMID:Arachnoid ossificans of thoracolumbosacral spine in the advanced ankylosing spondylitis: a case report. 2219 60

Cauda equina syndrome (CES) associated with dural ectasia is a rare neurologic complication in patients with longstanding ankylosing spondylitis (AS). We report a 68-year-old male with a 30-year history of AS who presented a typical symptom and signs of progressive CES, urinary incontinence and neuropathic pain of the lumbosacral radiculopathy. Computed tomography (CT) and magnetic resonance imaging (MRI) findings showed the unique appearances of dural ectasia, multiple dural diverticula, erosion of posterior element of the lumbar spine, tethering of the conus medullaris and adhesion of the lumbosacral nerve roots to the posterior aspect of the dural ectasia. Considering the progressive worsening of the clinical signs, detethering of the conus medullaris through resection of the filum terminale was performed through a limited laminectomy. However, the urinary incontinence did not improve and there was a partial relief of the neuropathic leg pain only. The possible pathogenetic mechanism of CES-AS and the dural ectasia in this patient with longstanding AS are discussed with a literature review.
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PMID:Cauda equina syndrome associated with dural ectasia in chronic anlylosing spondylitis. 2562 15