Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Groeneweg, Stefan; Van Geest, Ferdy; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem; Armour, Christine; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico; Van Beynum, Ingrid; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; De Coo, Irenaeus; Coutant, Regis; Craiu, Dana; Crock, Patricia; Degoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien; Hackenberg, Annette; Halasz, Zita; Heinrich, Bianka; Huynh, Tony; Klosowska, Anna; Van Der Knaap, Marjo; Van Der Knoop, Marieke; Konrad, Daniel; Koolen, David; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Claudia; Lourenco, Charles; Lunsing, Roelineke; Lyons, Greta; Malikova, Jana; Mancilla, Edna; Mcgowan, Anne; Mericq, Veronica; Lora, Felipe; Moran, Carla; Mueller, Katalin; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen; Polak, Michel; Porta, Francesco; Poswar, Fabiano; Reinauer, Christina; Rozenkova, Klara; Seven Menevşe, TUBA; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Van Der Spek, Jet; Stals, Milou; Stoupa, Athanasia; Subramanian, Gopinath; Tonduti, Davide; Demircioğlu, SERAP; Den Uil, Corstiaan; Vanderniet, Joel; Van Der Walt, Adri; Wemeau, Jean-Louis; Wierzba, Jolante; De Wit, Marie-Claire; Wolf, Nicole; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W.

doi:10.1016/s2213-8587(20)30153-4

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Groeneweg S., Van Geest F. S., Abacı A., Alcantud A., Ambegaonkar G. P., Armour C. M., ...Daha Fazla

LANCET DIABETES & ENDOCRINOLOGY, cilt.8, sa.7, ss.594-605, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 8 Sayı: 7
Basım Tarihi: 2020
Doi Numarası: 10.1016/s2213-8587(20)30153-4
Dergi Adı: LANCET DIABETES & ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, Food Science & Technology Abstracts, MEDLINE, Veterinary Science Database
Sayfa Sayıları: ss.594-605
Marmara Üniversitesi Adresli: Evet

Özet

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.