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Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
Goudet, Claire; Ged, Cécile; Petit, Audrey; Desage, Chloe; Mahe, Perrine; Salhi, Aicha; Harzallah, Ines; Blouin, Jean-Marc; Mercie, Patrick; Schmitt, Caroline; Poli, Antoine; Gouya, Laurent; Barlogis, Vincent; Richard, Emmanuel.
Afiliación
  • Goudet C; Pediatric Haematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (APHM), F-13005 Marseille, France.
  • Ged C; Department of Biochemistry, Groupe Hospitalier Pellegrin, CHU Bordeaux, F-33076 Bordeaux, France.
  • Petit A; BRIC, Bordeaux Institute of Oncology, Inserm UMR1312, University of Bordeaux, 146 Rue Léo Saignat, F-33076 Bordeaux, France.
  • Desage C; Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France.
  • Mahe P; Pediatric Haematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (APHM), F-13005 Marseille, France.
  • Salhi A; Neonatology and Pediatric Haematology, CHU de Montpellier, F-34295 Montpellier, France.
  • Harzallah I; Neonatology and Pediatric Haematology, CHU de Montpellier, F-34295 Montpellier, France.
  • Blouin JM; Faculté de Médecine d'Alger, Department of Dermatology, 16010 Alger, Algeria.
  • Mercie P; Genetic Department, CHU de Saint-Etienne, F-42055 Saint-Etienne, France.
  • Schmitt C; Department of Biochemistry, Groupe Hospitalier Pellegrin, CHU Bordeaux, F-33076 Bordeaux, France.
  • Poli A; BRIC, Bordeaux Institute of Oncology, Inserm UMR1312, University of Bordeaux, 146 Rue Léo Saignat, F-33076 Bordeaux, France.
  • Gouya L; Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France.
  • Barlogis V; Centre de Compétence Maladies Rares Porphyries, Groupe Hospitalier Saint-André, CHU Bordeaux, F-33000 Bordeaux, France.
  • Richard E; BRIC, Bordeaux Institute of Oncology, Inserm UMR1312, University of Bordeaux, 146 Rue Léo Saignat, F-33076 Bordeaux, France.
Life (Basel) ; 14(1)2024 Jan 17.
Article en En | MEDLINE | ID: mdl-38255745
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 features, acute neonatal distress and postnatal diagnosis. Antenatal symptoms (seven patients) were mainly hydrops fetalis, hepatosplenomegaly, anemia, and malformations. Six of them died prematurely. Five babies showed acute neonatal distress, associated with severe anemia, thrombocytopenia, hepatosplenomegaly, liver dysfunction, and marked photosensitivity leading to diagnosis. The only two neonates who survived underwent hematopoietic stem cell transplantation (HSCT). Common features in post-natal diagnosis (eight patients) included hemolytic anemia, splenomegaly, skin sensitivity, and discoloured teeth and urine. All patients underwent HSCT, with success for six of them, but with fatal complications in two patients. The frequency of the missense variant named C73R is striking in antenatal and neonatal presentations, with 9/12 and 7/8 independent alleles, respectively. (4)

Conclusions:

The most recent cases in this series are remarkable, as they had a less fatal outcome than expected. Regular transfusions from the intrauterine period and early access to HSCT are the main objectives.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Life (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Life (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Suiza