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Liver transplantation as a cure for acute intermittent porphyria

Soonawalla, Zahir F., Orug, Taner, Badminton, Michael Norman, Elder, George Hill, Rhodes, Jonathan M., Bramhall, Simon R. and Elias, Elwyn 2004. Liver transplantation as a cure for acute intermittent porphyria. Lancet 363 (9410) , pp. 705-6. 10.1016/S0140-6736(04)15646-8

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Acute intermittent porphyria occasionally causes frequent and crippling acute neurovisceral attacks associated with increased hepatic production of porphyrin precursors, resulting in long-term damage, poor quality of life, and shortened life expectancy. There has been no cure for this condition, but replacement of deficient hepatic enzymes might restore excretion of porphyrin precursors to normal and prevent acute attacks. We aimed to treat severe acute intermittent porphyria in a 19-year-old woman by liver transplantation. After the transplant, concentrations of haem precursors in the patient's urine returned to normal, and 1·5 years later her quality of life was good. Our report suggests some hope of cure for selected patients with severe forms of this disease.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Elsevier
ISSN: 1474547X
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Last Modified: 04 Jun 2017 01:32

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