Two siblings with congenital erythropoietic porphyria in one family: case report and literature review.
10.7499/j.issn.1008-8830.2503048
- Author:
Yue-Qian YANG
1
;
Yang HAN
1
;
Ci-Liu ZHANG
1
;
Min XIE
1
Author Information
1. Children's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
- Publication Type:English Abstract
- Keywords:
Child;
Congenital erythropoietic porphyria;
Photosensitivity;
Skin
- MeSH:
Humans;
Porphyria, Erythropoietic/genetics*;
Female;
Child;
Child, Preschool;
Male;
Siblings;
Mutation;
Uroporphyrinogen III Synthetase/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(10):1271-1275
- CountryChina
- Language:Chinese
-
Abstract:
Case 1 was a 7-year-old girl; Case 2 was her 3-year-old younger brother. Both children developed pink urine shortly after birth and exhibited blistering on photo-exposed areas (face and hands), followed by ulceration, crusting, scarring, and joint contractures leading to impaired mobility. Genetic testing in both patients identified a homozygous variant in the UROS gene, c.776T>C (p.Leu259Pro), confirming autosomal recessive congenital erythropoietic porphyria due to UROS mutations. This case report highlights that congenital erythropoietic porphyria should be considered in infants and young children with unexplained hemolytic anemia, pink urine, and severe photosensitive dermatitis. Early genetic testing is recommended to facilitate timely intervention and improve outcomes.
