ESPEYB18 3. Thyroid Clinical studies (3 abstracts)
3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Groeneweg S , van Geest FS , Abacı A , Alcantud A , Ambegaonkar GP , Armour CM , Bakhtiani P , Barca D , Bertini ES , van Beynum IM , Brunetti-Pierri N , Bugiani M , Cappa M , Cappuccio G , Castellotti B , Castiglioni C , Chatterjee K , de Coo IFM , Coutant R , Craiu D , Crock P , DeGoede C , Demir K , Dica A , Dimitri P , Dolcetta-Capuzzo A , Dremmen MHG , Dubey R , Enderli A , Fairchild J , Gallichan J , George B , Gevers EF , Hackenberg A , Halász Z , Heinrich B , Huynh T , Kłosowska A , van der Knaap MS , van der Knoop MM , Konrad D , Koolen DA , Krude H , Lawson-Yuen A , Lebl J , Linder-Lucht M , Lorea CF , Lourenço CM , Lunsing RJ , Lyons G , Malikova J , Mancilla EE , McGowan A , Mericq V , Lora FM , Moran C , Müller KE , Oliver-Petit I , Paone L , Paul PG , Polak M , Porta F , Poswar FO , Reinauer C , Rozenkova K , Menevse TS , Simm P , Simon A , Singh Y , Spada M , van der Spek J , Stals MAM , Stoupa A , Subramanian GM , Tonduti D , Turan S , den Uil CA , Vanderniet J , van der Walt A , Wémeau JL , Wierzba J , de Wit MY , Wolf NI , Wurm M , Zibordi F , Zung A , Zwaveling-Soonawala N & Visser WE
Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.
Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting clinical features, and age at onset of signs and diagnosis provides a good basis for clinical suspicion of MCT8 deficiency in clinical practice.
Detailed auxiological, and clinical parameters are presented in an age-dependent manner highlighting the important problems of resting tachycardia becoming more obvious beyond 10 years of age, while low weight developing in the first five years of life. They also summarize the neurodevelopmental and neuroorthopedic problems as well as secondary organ problems as consequence of MTC8 deficiency (e.g. low bone mineral density, gastroesophageal reflux, recurrent pulmonary infections, elevated systolic blood pressure). Finally, overall survival, and causes of the high mortality rate in the paediatric age group give a precise prognostic view on MCT8 deficiency.
This publication is of importance for diagnosis and care of affected patients in a multidisciplinary setting and widely extends current knowledge on this rare disease. The same authors published outcomes after specific pharmacological treatment in 2019, supporting the importance of collaborative networks in care of rare diseases.
Reference: 1. Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. Lancet Diabetes Endocrinol. 2019;7:695–706. doi: 10.1016/S2213-8587(19)30155-X
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ESPE Yearbook of Paediatric Endocrinology
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