Severe Perinatal Presentations of Gunther's Disease: Series of 20 Cases and Perspectives.

ABSTRACT: (1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed the perinatal CEP cases recorded in France in order to analyse their various presentations and evolution. (2) Methods: Clinical and biological data were retrospectively collected through medical and published records. (3) Results: Twenty CEP cases, who presented with severe manifestations during perinatal period, were classified according to the main course of the disease: antenatal featu

SUBMITTER: Goudet C 

PROVIDER: S-EPMC10817338 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature