{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:38:14Z","timestamp":1760143094619,"version":"build-2065373602"},"reference-count":31,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T00:00:00Z","timestamp":1705449600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>(1) Background: Congenital erythropoietic porphyria (CEP), named G\u00fcnther\u2019s 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.<\/jats:p>","DOI":"10.3390\/life14010130","type":"journal-article","created":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T04:16:56Z","timestamp":1705465016000},"page":"130","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Severe Perinatal Presentations of G\u00fcnther\u2019s Disease: Series of 20 Cases and Perspectives"],"prefix":"10.3390","volume":"14","author":[{"given":"Claire","family":"Goudet","sequence":"first","affiliation":[{"name":"Pediatric Haematology Department, Timone Enfant, Assistance Publique H\u00f4pitaux de Marseille (APHM), F-13005 Marseille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7257-8264","authenticated-orcid":false,"given":"C\u00e9cile","family":"Ged","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Groupe Hospitalier Pellegrin, CHU Bordeaux, F-33076 Bordeaux, France"},{"name":"BRIC, Bordeaux Institute of Oncology, Inserm UMR1312, University of Bordeaux, 146 Rue L\u00e9o Saignat, F-33076 Bordeaux, France"},{"name":"Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Petit","sequence":"additional","affiliation":[{"name":"Pediatric Haematology Department, Timone Enfant, Assistance Publique H\u00f4pitaux de Marseille (APHM), F-13005 Marseille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chloe","family":"Desage","sequence":"additional","affiliation":[{"name":"Neonatology and Pediatric Haematology, CHU de Montpellier, F-34295 Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Perrine","family":"Mahe","sequence":"additional","affiliation":[{"name":"Neonatology and Pediatric Haematology, CHU de Montpellier, F-34295 Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aicha","family":"Salhi","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine d\u2019Alger, Department of Dermatology, 16010 Alger, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ines","family":"Harzallah","sequence":"additional","affiliation":[{"name":"Genetic Department, CHU de Saint-Etienne, F-42055 Saint-Etienne, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Marc","family":"Blouin","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Groupe Hospitalier Pellegrin, CHU Bordeaux, F-33076 Bordeaux, France"},{"name":"BRIC, Bordeaux Institute of Oncology, Inserm UMR1312, University of Bordeaux, 146 Rue L\u00e9o Saignat, F-33076 Bordeaux, France"},{"name":"Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France"},{"name":"Centre de Comp\u00e9tence Maladies Rares Porphyries, Groupe Hospitalier Saint-Andr\u00e9, CHU Bordeaux, F-33000 Bordeaux, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1493-7390","authenticated-orcid":false,"given":"Patrick","family":"Mercie","sequence":"additional","affiliation":[{"name":"BRIC, Bordeaux Institute of Oncology, Inserm UMR1312, University of Bordeaux, 146 Rue L\u00e9o Saignat, F-33076 Bordeaux, France"},{"name":"Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France"},{"name":"Centre de Comp\u00e9tence Maladies Rares Porphyries, Groupe Hospitalier Saint-Andr\u00e9, CHU Bordeaux, F-33000 Bordeaux, France"},{"name":"Department of Internal Medicine and Clinical Immunology, Groupe Hospitalier Saint-Andr\u00e9, CHU Bordeaux, F-33000 Bordeaux, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5145-7260","authenticated-orcid":false,"given":"Caroline","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France"},{"name":"Centre de Recherche sur l\u2019Inflammation, Universit\u00e9 de Paris Cit\u00e9, Inserm U1149, F-45018 Paris, France"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence Maladies Rares Porphyries, H\u00f4pital Louis Mourier, F-92400 Colombes, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoine","family":"Poli","sequence":"additional","affiliation":[{"name":"Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France"},{"name":"Centre de Recherche sur l\u2019Inflammation, Universit\u00e9 de Paris Cit\u00e9, Inserm U1149, F-45018 Paris, France"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence Maladies Rares Porphyries, H\u00f4pital Louis Mourier, F-92400 Colombes, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Gouya","sequence":"additional","affiliation":[{"name":"Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France"},{"name":"Centre de Recherche sur l\u2019Inflammation, Universit\u00e9 de Paris Cit\u00e9, Inserm U1149, F-45018 Paris, France"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence Maladies Rares Porphyries, H\u00f4pital Louis Mourier, F-92400 Colombes, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Barlogis","sequence":"additional","affiliation":[{"name":"Pediatric Haematology Department, Timone Enfant, Assistance Publique H\u00f4pitaux de Marseille (APHM), F-13005 Marseille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel","family":"Richard","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Groupe Hospitalier Pellegrin, CHU Bordeaux, F-33076 Bordeaux, France"},{"name":"BRIC, Bordeaux Institute of Oncology, Inserm UMR1312, University of Bordeaux, 146 Rue L\u00e9o Saignat, F-33076 Bordeaux, France"},{"name":"Laboratory of Excellence Gr-Ex, Institut Imagine, F-75015 Paris, France"},{"name":"Centre de Comp\u00e9tence Maladies Rares Porphyries, Groupe Hospitalier Saint-Andr\u00e9, CHU Bordeaux, F-33000 Bordeaux, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,17]]},"reference":[{"key":"ref_1","first-page":"151","article-title":"Congenital erythropoietic porphyria","volume":"Volume 45","author":"Kadish","year":"2013","journal-title":"Handbook of Porphyrin 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