Dibi A, Aitouamar H, Bentahila A
Hôpital d'Enfants de Rabat, Maroc.
Arch Pediatr. 2010 Dec;17(12):1670-2. doi: 10.1016/j.arcped.2010.08.010. Epub 2010 Nov 18.
Porphyrias are inherited metabolic diseases characterized by accumulation and increased excretion of porphyrins due to enzyme deficiencies involved in the biosynthesis of heme. Porphyrias are monogenic autosomal and mostly dominant disorders.
A 10-year-old boy was diagnosed with acute intermittent porphyria on the basis of recurrent flaccid paralysis with red urine. Confirmation was obtained by measurement of urinary porphyrin precursors and chromatography of porphyrins.
Acute intermittent porphyria is a severe form of hereditary porphyria with severe neurological complications during an acute episode. Specific investigations should be performed early and urgently in the presence of suggestive signs in a child.
卟啉病是遗传性代谢疾病，其特征是由于血红素生物合成中涉及的酶缺陷，导致卟啉积累和排泄增加。卟啉病是单基因常染色体疾病，大多为显性疾病。
一名10岁男孩因反复出现弛缓性麻痹伴红色尿液被诊断为急性间歇性卟啉病。通过测定尿卟啉前体和卟啉色谱法得以确诊。
急性间歇性卟啉病是遗传性卟啉病的一种严重形式，在急性发作期间会出现严重的神经并发症。儿童出现提示性体征时应尽早并紧急进行特定检查。
