دورية أكاديمية
Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis /
| العنوان: | Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis / |
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| المؤلفون: | Cuenca, Marc Vila, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Borges, Marina Dorigatti, de Albuquerque, Dulcinéia Martins, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnytė, Birutė, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras Ferdinandas, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B., Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka |
| المصدر: | International journal of molecular sciences., Basel : MDPI, 2020, vol. 21, no. 7, art. no. 2374, p. [1-14]. ; ISSN 1661-6596 ; eISSN 1422-0067 |
| سنة النشر: | 2020 |
| المجموعة: | Vilnius University Virtual Library (VU VL) / Vilniaus universitetas virtuali biblioteka |
| مصطلحات موضوعية: | aceruloplasminemia, ceruloplasmin, iron metabolism, neurodegenerative disease |
| الوصف: | 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 e_orts are needed to better understand the pathophysiology of this potentially disabling disease. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://epublications.vu.lt/object/elaba:54838682/54838682.pdfTest; https://repository.vu.lt/VU:ELABAPDB54838682&prefLang=en_USTest |
| الإتاحة: | https://doi.org/10.3390/ijms21072374Test https://repository.vu.lt/VU:ELABAPDB54838682&prefLang=en_USTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.A87780E1 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |