PDF(Pubmed)
Abstract：
Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.
摘要：
急性间歇性卟啉症（AIP）和寻常鱼鳞病都是常染色体显性疾病，由胆色素原脱氨酶和聚丝蛋白缺乏引起的外显率不完全。分别。我们报告了一个9岁男孩的罕见病例，该男孩患有两种遗传性疾病，其相关性尚不清楚。AIP的急性发作以胃肠道症状和神经精神表现为特征。虽然在生命的第一个十年很少见，红色尿液的存在，典型的表现，如腹痛，高血压,癫痫发作,和感觉异常导致我们对AIP的诊断。本案的诱因是斋月的禁食时间延长。
