Hift R J, Meissner P N, Todd G, Kirby P, Bilsland D, Collins P, Ferguson J, Moore M R
MRC/UCT Liver Research Centre, Department of Medicine, University of Cape Town, Observatory, South Africa.
Postgrad Med J. 1993 Oct;69(816):781-6. doi: 10.1136/pgmj.69.816.781.
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 the first South African case. We delineate a syndrome principally characterized by growth retardation, developmental delay, epileptic seizures, photosensitivity and an abnormal porphyrin excretion pattern. In addition we describe, in one case, two features not previously reported: skin disease in areas unexposed to light and a severe sensory neuropathy which may account at least in part for the hand deformities of this disorder.
杂色卟啉症是南非最常见的遗传疾病之一。它作为常染色体显性疾病遗传，开普敦研究小组已对300多例杂合子病例进行了研究。尽管如此，南非此前尚未发现纯合子病例。我们报告了两例纯合子杂色卟啉症病例，其中一例是南非首例。我们描述了一种主要表现为生长发育迟缓、发育延迟、癫痫发作、光敏性和异常卟啉排泄模式的综合征。此外，我们在一例中描述了两个以前未报告的特征：未暴露于光的部位出现皮肤病和严重的感觉神经病变，这可能至少部分解释了该疾病的手部畸形。
