Recovery from a variegate porphyria by a liver transplantation
نویسندگان
چکیده
منابع مشابه
Variegate porphyria complicated by systemic AA amyloidosis: a case report
We report a Japanese woman with variegate porphyria accompanied by amyloid A (AA) amyloidosis. Arthropathy involving multiple joints occurred at 35 years old and persisted. C-reactive protein was 4.0 mg/dL, but rheumatoid factor was negative. Radiographs did not reveal any loss or narrowing of the joint spaces. Two years later, blister formation after sun exposure and reddish urine were first n...
متن کاملSafe use of perampanel in a carrier of variegate porphyria.
1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK, and Epilepsy Society, Chalfont St Peter, SL9 0RJ, UK. 2 Neuroscience Department, Polytechnic University of Marche, Ancona 60100, Italy 3 Royal Victoria Infirmary, Newcastle-Upon Tyne, UK 4 Department of Laboratory...
متن کاملVariegate porphyria and atrial fibrillation: acute attack induced by propafenone.
AD, anterior descending coronary artery; CTO, chronic total occlusion; CX, circumflex coronary artery; F, female; LMC, left main coronary artery; M, male; RC, right coronary artery. a Patient no. 4 had chronic renal failure requiring hemodialysis, as well as severe peripheral arterial disease. Patient no. 7 had advanced chronic obstructive pulmonary disease. b Patient no. 4 had total occlusion ...
متن کاملHomozygous variegate porphyria: an evolving clinical syndrome.
Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have been studied by the Cape Town unit. Despite this, the homozygous condition has not previously been encountered in South Africa. We report two cases of homozygous variegate porphyria, one of whom represents...
متن کاملMolecular characterization of homozygous variegate porphyria.
Variegate porphyria (VP) is a low penetrance, autosomal dominant disorder that results from partial deficiency of protoporphyrinogen oxidase (PPOX) activity caused by mutation in the PPOX gene. The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand and, less constantly, short ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Liver Transplantation
سال: 2004
ISSN: 1527-6465,1527-6473
DOI: 10.1002/lt.20136