Jaramillo-Calle Daniel A, Martinez Yuliana A, Balwani Manisha, Fernandez Camila, Toro Martin
IPS Universitaria Universidad de Antioquia, Medellin, Colombia; Institute of Medical Research, Universidad de Antioquia, Medellin, Colombia.
IPS Universitaria Universidad de Antioquia, Medellin, Colombia.
Mol Genet Metab. 2021 Jul;133(3):242-249. doi: 10.1016/j.ymgme.2021.04.008. Epub 2021 May 7.
The clinical and laboratory features of dominant acute hepatic porphyrias (AHPs) in prepubertal children and adolescents have not been well established.
To evaluate clinical and laboratory features of AHPs in prepubertal children and adolescents compared to adults.
OVID (Embase Classic+Embase and MEDLINE), Scopus, and Google Scholar.
Studies describing symptomatic children or adolescents (<18 years old) with increased urinary porphobilinogen were included.
Two reviewers independently extracted the data, with a third reviewer arbitrating discrepancies.
100 studies were included describing 112 patients (26 prepubertal children and 86 adolescents). Differences were found between prepubertal children and adolescents regarding sex distribution (female-to-male ratio: 1:2 vs. 4:1), clinical manifestations, and concomitant clinical manifestations.
There was variation in the methods used to diagnose porphyria attacks across studies, and some elements of the quality of individual studies were unclear.
Prepubertal children with AHPs and porphyria attacks presented with distinct demographic and clinical characteristics from adolescents and adults. Nearly two-thirds of the affected children were males, and about half had a concomitant medical condition that can constitutively upregulate hepatic δ-aminolevulinic acid synthase-1. Adolescents were comparable to adults in almost all respects.
青春期前儿童和青少年显性急性肝卟啉病（AHP）的临床和实验室特征尚未完全明确。
评估青春期前儿童和青少年与成人相比AHP的临床和实验室特征。
OVID（Embase经典版+Embase和MEDLINE）、Scopus和谷歌学术。
纳入描述有症状的儿童或青少年（<18岁）尿卟胆原增加的研究。
两名审阅者独立提取数据，由第三名审阅者仲裁分歧。
纳入100项研究，描述了112例患者（26例青春期前儿童和86例青少年）。青春期前儿童和青少年在性别分布（女性与男性比例：1:2 vs. 4:1）、临床表现和伴随的临床表现方面存在差异。
各研究中用于诊断卟啉病发作的方法存在差异，个别研究的质量有些方面尚不清楚。
患有AHP和卟啉病发作的青春期前儿童与青少年及成人相比，具有不同的人口统计学和临床特征。近三分之二受影响儿童为男性，约一半儿童伴有可组成性上调肝脏δ-氨基乙酰丙酸合酶-1的疾病。青少年在几乎所有方面与成人相当。
