Elder G H
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
J Inherit Metab Dis. 1997 Jun;20(2):237-46. doi: 10.1023/a:1005313024076.
Clinically overt hepatic porphyria is uncommon in children. The autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), are rarely present before puberty. Identification of asymptomatic children who have inherited these disorders is an important aspect of the management of the disease in their families and requires either enzymatic or DNA methods. Homozygous variants of AIP, VP and HCP usually present in early childhood and have phenotypes of variable severity. Mutational analysis is currently elucidating the relationship between these disorders and their autosomal dominant counterparts. 5-Aminolaevulinate dehydratase deficiency porphyria is a rare, autosomal recessive acute porphyria that may present at any age. Two cutaneous hepatic porphyrias are seen in children. Porphyria cutanea tarda (PCT), although mainly an adult disease, has been reported in young children with the autosomal dominant (type II) form of the disorder. Hepatoerythropoietic porphyria usually develops before the age of 2 years; patients are homo- or heteroallelic for uroporphyrinogen decarboxylase mutations, at least one of which is known to cause type II PCT.
临床上明显的肝性卟啉病在儿童中并不常见。常染色体显性遗传性急性肝性卟啉病，即急性间歇性卟啉病（AIP）、迟发性皮肤卟啉病（VP）和遗传性粪卟啉病（HCP），在青春期前很少出现。识别患有这些遗传性疾病的无症状儿童是其家族中该疾病管理的一个重要方面，这需要酶学或DNA检测方法。AIP、VP和HCP的纯合变异通常在儿童早期出现，且具有严重程度各异的表型。突变分析目前正在阐明这些疾病与其常染色体显性对应疾病之间的关系。5-氨基酮戊酸脱水酶缺乏性卟啉病是一种罕见的常染色体隐性遗传性急性卟啉病，可在任何年龄出现。儿童中可见两种皮肤肝性卟啉病。迟发性皮肤卟啉病（PCT）虽然主要是一种成人疾病，但在患有常染色体显性（II型）该疾病的幼儿中也有报道。肝红细胞生成性卟啉病通常在2岁前发病；患者为尿卟啉原脱羧酶突变的纯合子或杂合子，已知其中至少一种突变会导致II型PCT。
