Porphyria attacks in prepubertal children and adolescents.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Dominant acute hepatic porphyrias (AHPs) are rare genetic disorders.
• Clinical and laboratory features of AHPs in pediatric populations are not well-established.

Purpose of the Study:

• To compare the clinical and laboratory features of AHPs in prepubertal children and adolescents with those in adults.
• To identify distinct characteristics of AHPs in younger populations.

Main Methods:

• Systematic literature review of OVID, Scopus, and Google Scholar.
• Inclusion of studies on symptomatic children and adolescents (<18 years) with elevated urinary porphobilinogen.
• Data extraction by independent reviewers.

Main Results:

• 100 studies involving 112 patients were analyzed.
• Significant differences observed in sex distribution (prepubertal: 1:2 F:M; adolescents: 4:1 F:M), clinical manifestations, and comorbidities between prepubertal children and adolescents.
• Adolescents with AHPs were largely similar to adults.

Conclusions:

• Prepubertal children with AHPs exhibit unique demographic and clinical profiles compared to adolescents and adults.
• Male sex and specific co-occurring medical conditions are notable in prepubertal children with AHPs.
• Adolescents with AHPs generally align with adult presentations.