Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Osteonecrosis of bone is a major cause of morbidity in lupus patients, and is most common in the femoral head. It has been reported in wide range of patients (2-30%). In different studies presence of arthritis, Raynaud phenomenon, vasculitis, pleuritis, antiphospholipid and other factors were associated with this occurrence. Bone infarcts were also associated with these factors. We report a 21-year-old patient who was diagnosed as SLE about 3 years ago. When the patient was stable with hydroxychloroquine and prednisolone referred to rheumatologic clinic for mechanical knee pain, in evaluation she had bone infarct in distal femur. Two months later she came back with bilateral hip pain, and in evaluation she had bilateral osteonecrosis of femoral heads. There are many reports of femoral head osteonecrosis in lupus patients, and also one report of multiple bone infarct and pain in SLE, but we did not find any report of these two phenomena together in a patient whose disease was controlled and she took minimum of steroid and DMARD in the about 2-month follow-up, and this was very interesting for us.
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PMID:A case of SLE with bilateral osteonecrosis of femoral heads and bone infarct in distal of femur. 1944 87

Wilson's disease (WD) is a rare disease, defined as an autosomal recessive disorder characterised by release of free copper and dramatic accumulation of intracellular hepatic copper with subsequent hepatic and central nervous system abnormalities. Mutations of the ATP7B gene are responsible for the metabolic dysfunction. Small open studies have reported spinal radiological abnormalities including scoliosis, diffuse bone demineralisation, osteochondritis and occasionally fracture. Prevalence of osteoporosis in young adult patients is debated, ranging from 10%, with normal mean Z-score values, to 43% in adults. Past history of spinal or peripheral fractures might be present in 50% of patients. Articular disorders include arthralgias of large joints, such as knee pain, rare effusions, early onset of radiological features of osteoarthritis and associated osteochondritis of the knee joint. Radiological chondrocalcinosis, an unusual feature in young adults, has to be confirmed. Few patients may develop drug-induced lupus with arthralgias, positive anti-nuclear and anti-histone antibodies, secondary to D-penicillamine, the major copper chelator used in WD. In this orphan disease, small retrospective studies cannot allow ascertaining definite WD-related articular and bone manifestations. However, such clinical and radiological abnormalities are occasionally the first symptoms leading to diagnosis. Physicians should be aware that unexplained joint pain and effusion, or even radiological features of osteoarthritis, of the large joints in adolescents could suggest WD and lead to copper survey.
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PMID:Miscellaneous non-inflammatory musculoskeletal conditions. Musculoskeletal conditions associated with Wilson's disease. 2214 43