지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
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초록· 키워드
오류제보하기
Wilson’s disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD, they are under-recognized. Musculoskeletal manifestations very rarely lead to diagnosis of the disease. Here we present a case of a 12-years-old girl who presented with a 3-months-old pathological fracture of neck of femur. WD was diagnosed on investigating the cause of the pathological fracture, which was managed by performing a conventional McMurray’s intertrochanteric osteotomy. At 6 months follow up, fracture had united and patient was able to ambulate with support. WD can be a rare cause of pathological fracture. A high index of suspicion must be maintained in patients of pathological fracture presenting with associated neuropsychiatric or hepatic manifestations.
목차
등록된 정보가 없습니다.
참고문헌 (21)
참고문헌 신청
Aggarwal A / 2009 / A novel global assessment scale for Wilson’s disease (GAS for WD) / Mov Disord 24 : 509 ~ 518
Beinhardt S / 2014 / Long-term outcomes of patients with Wilson disease in a large Austrian cohort / Clin Gastroenterol Hepatol 12 : 683 ~ 689
Bull PC / 1993 / The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene / Nat Genet 5 : 327 ~ 337
Chen C / 2015 / Currently clinical views on genetics of Wilson’s disease / Chin Med J 128 : 1826 ~ 1830
Cumings JN / 1948 / The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration / Brain 71 : 410 ~ 415
Beinhardt S / 2014 / Long-term outcomes of patients with Wilson disease in a large Austrian cohort / Clin Gastroenterol Hepatol 12 : 683 ~ 689
Bull PC / 1993 / The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene / Nat Genet 5 : 327 ~ 337
Chen C / 2015 / Currently clinical views on genetics of Wilson’s disease / Chin Med J 128 : 1826 ~ 1830
Cumings JN / 1948 / The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration / Brain 71 : 410 ~ 415
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