Porphyria attacks in prepubertal children and adolescents.

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.