Context

The clinical and laboratory features of dominant acute hepatic porphyrias (AHPs) in prepubertal children and adolescents have not been well established.

Objective

To evaluate clinical and laboratory features of AHPs in prepubertal children and adolescents compared to adults.

Data sources

OVID (Embase Classic+Embase and MEDLINE), Scopus, and Google Scholar.

Study selection

Studies describing symptomatic children or adolescents (<18 years old) with increased urinary porphobilinogen were included.

Data extraction

Two reviewers independently extracted the data, with a third reviewer arbitrating discrepancies.

Results

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.

Limitations

There was variation in the methods used to diagnose porphyria attacks across studies, and some elements of the quality of individual studies were unclear.

Conclusions

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.

中文翻译：

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青春期前儿童和青少年的卟啉症发作

语境

青春期前儿童和青少年显性急性肝卟啉症 (AHPs) 的临床和实验室特征尚未完全确定。

客观的

与成人相比，评估青春期前儿童和青少年 AHP 的临床和实验室特征。

数据源

OVID（Embase Classic+Embase 和 MEDLINE）、Scopus 和 Google Scholar。

研究选择

包括描述有症状的儿童或青少年（<18 岁）尿胆色素原增加的研究。

数据提取

两名审稿人独立提取数据，第三名审稿人仲裁差异。

结果

纳入了 100 项研究，描述了 112 名患者（26 名青春期前儿童和 86 名青少年）。青春期前儿童和青少年在性别分布（男女比例：1:2 vs. 4:1）、临床表现和伴随临床表现方面存在差异。

限制

不同研究用于诊断卟啉症发作的方法存在差异，个别研究质量的某些要素尚不清楚。

结论

患有 AHP 和卟啉症的青春期前儿童呈现出与青少年和成人不同的人口统计学和临床​​特征。近三分之二的受影响儿童是男性，约半数患有可组成性上调肝脏 δ-氨基乙酰丙酸合酶 1 的合并症。青少年几乎在所有方面都与成年人相当。