Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. p p p Interpretation Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study / S. Groeneweg, F. van Geest, A. Abaci, A. Alcantud, G. Ambegaonkar, C. Armour, P. Bakhtiani, D. Barca, E. Bertini, I. van Beynum, N. Brunetti-Pierri, M. Bugiani, M. Cappa, G. Cappuccio, B. Castellotti, C. Castiglioni, K. Chatterjee, I. de Coo, R. Coutant, D. Craiu, P. Crock, C. Degoede, K. Demir, A. Dica, P. Dimitri, A. Dolcetta-Capuzzo, M. Dremmen, R. Dubey, A. Enderli, J. Fairchild, J. Gallichan, B. George, E. Gevers, A. Hackenberg, Z. Halasz, B. Heinrich, T. Huynh, A. Klosowska, M. van der Knaap, M. van der Knoop, D. Konrad, D. Koolen, H. Krude, A. Lawson-Yuen, J. Lebl, M. Linder-Lucht, C. Lorea, C. Lourenco, R. Lunsing, G. Lyons, J. Malikova, E. Mancilla, A. Mcgowan, V. Mericq, F. Lora, C. Moran, K. Muller, I. Oliver-Petit, L. Paone, P. Paul, M. Polak, F. Porta, F. Poswar, C. Reinauer, K. Rozenkova, T. Menevse, P. Simm, A. Simon, Y. Singh, M. Spada, J. van der Spek, M. Stals, A. Stoupa, G. Subramanian, D. Tonduti, S. Turan, C. den Uil, J. Vanderniet, A. van der Walt, J. Wemeau, J. Wierzba, M. de Wit, N. Wolf, M. Wurm, F. Zibordi, A. Zung, N. Zwaveling-Soonawala, W. Visser. - In: THE LANCET DIABETES & ENDOCRINOLOGY. - ISSN 2213-8587. - 8:7(2020), pp. 594-605. [10.1016/S2213-8587(20)30153-4]
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
B. Castellotti;D. Tonduti;
2020
Abstract
Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. p p p Interpretation Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies.
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