Keywords
Hepatic porphyrias; Erythropoietic porphyria; Heme; Child
How to Cite
González, V., Zabala, C., Mastroianni, L., Cabrera, Ángela, & Lemes, A. (2021). A clinical case of hepato-erythropoietic porphyria associated with type 1 diabetes mellitus. Archivos De Pediatría Del Uruguay, 92(2), e307. Retrieved from https://adp.sup.org.uy/index.php/adp/article/view/271
Abstract
Porphyria is a complex and heterogeneous group of heme synthesis disorder. Hepato-erythropoietic porphyria is a very rare subtype that onsets in childhood, and shows predominant skin involvement. We describe the clinical case of a 5-year-old patient who showed skin lesions and hypertrichosis and whose diagnosis was confirmed due to increased uroporphyrins in urine and UROD gene sequencing.