A CASE OF VARIEGATE PORPHYRIA AND HER HEPATIC δ-AMINOLEVURINIC ACID SYNTHETIC ACTIVITY
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چکیده
منابع مشابه
Variegate porphyria complicated by systemic AA amyloidosis: a case report
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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 ...
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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...
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UNLABELLED This case describes an older patient with a rare diagnosis of variegate porphyria presenting with acute abdominal pains and bloating, intermittent loose stools and jaw pains following surgical repair of an osteoporotic hip fracture. She was noted to have acute hyponatraemia. All the abdominal symptoms and the hyponatraemia were initially attributed to an acute episode of variegate po...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1979
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.68.1293