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00925njm 22002777a 4500 dc Vila Cuenca, Marc author Marchi, Giacomo author Barqué, Anna author Esteban-Jurado, Clara author Marchetto, Alessandro author Giorgetti, Alejandro author Chelban, Viorica author Houlden, Henry author Wood, Nicholas W. author Piubelli, Chiara author Dorigatti Borges, Marina author Martins de Albuquerque, Dulcinéia author Yotsumoto Fertrin, Kleber author Jové-Buxeda, Ester author Sanchez-Delgado, Jordi author Baena-Díez, Neus author Burnyte, Birute author Utkus, Algirdas author BUSTI, Fabiana author Kaubrys, Gintaras author Suku, Eda author Kowalczyk, Kamil author Karaszewski, Bartosz author Porter, John B. author Pollard, Sally author Eleftheriou, Perla author Bignell, Patricia author GIRELLI, Domenico author Sanchez-Fernandez, Mayka author 2020 Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. The disease is caused by mutations in the Ceruloplasmin (CP) gene that produce a strong reduction or absence of ceruloplasmin ferroxidase activity, leading to an impairment of iron metabolism. Most patients described so far are from Japan. Prompt diagnosis and therapy are crucial to prevent neurological complications since, once established, they are usually irreversible. Here, we describe the largest series of non-Japanese patients with aceruloplasminemia published so far, including 13 individuals from 11 families carrying 13 mutations in the CP gene (7 missense, 3 frameshifts, and 3 splicing mutations), 10 of which are novel. All missense mutations were studied by computational modeling. Clinical manifestations were heterogeneous, but anemia, often but not necessarily microcytic, was frequently the earliest one. This study confirms the clinical and genetic heterogeneity of aceruloplasminemia, a disease expected to be increasingly diagnosed in the Next-Generation Sequencing (NGS) era. Unexplained anemia with low transferrin saturation and high ferritin levels without inflammation should prompt the suspicion of aceruloplasminemia, which can be easily confirmed by low serum ceruloplasmin levels. Collaborative joint efforts are needed to better understand the pathophysiology of this potentially disabling disease. Vila Cuenca, Marc; Marchi, Giacomo; Barqué, Anna [et al.]. Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis. International Journal of Molecular Sciences, 2020, 21(7), 2374. Disponible en: <https://www.mdpi.com/1422-0067/21/7/2374>. Fecha de acceso: 18 ene. 2022. DOI: 10.3390/ijms21072374 1422-0067 http://hdl.handle.net/20.500.12328/3075 https://dx.doi.org/10.3390/ijms21072374 Aceruloplasminèmia Ceruloplasmina Metabolisme del ferro Malaltia neurodegenerativa Anèmia Ferritina Aceruloplasminemia Ceruloplasmina Metabolismo del hierro Enfermedad neurodegenerativa Anemia Ferritina Aceruloplasminemia Ceruloplasmin Iron metabolism Neurodegenerative disease Anemia Ferritin Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis