Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
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Vogel Georg F, Mozer-Glassberg Yael, Landau Yuval E, Schlieben Lea D, Prokisch Holger, Feichtinger René G, Mayr Johannes A, Brennenstuhl Heiko, Schröter Julian, Pechlaner Agnes, Alkuraya Fowzan S, Baker Joshua J, Barcia Giulia, Baric Ivo, Braverman Nancy, Burnyte Birute, Christodoulou John, Ciara Elzbieta, Coman David, Das Anibh M, Darin Niklas, Della Marina Adela, Distelmaier Felix, Eklund Erik A, Ersoy Melike, Fang Weiyan, Gaignard Pauline, Ganetzky Rebecca D, Gonzales Emmanuel, Howard Caoimhe, Hughes Joanne, Konstantopoulou Vassiliki, Kose Melis, Kerr Marina, Khan Aneal, Lenz Dominic, McFarland Robert, Margolis Merav Gil, Morrison Kevin, Müller Thomas, Murayama Kei, Nicastro Emanuele, Pennisi Alessandra, Peters Heidi, Piekutowska-Abramczuk Dorota, Rötig Agnès, Santer René, Scaglia Fernando, Schiff Manuel, Shagrani Mohmmad, Sharrard Mark, Soler-Alfonso Claudia, Staufner Christian, Storey Imogen, Stormon Michael, Taylor Robert W, Thorburn David R, Teles Elisa Leao, Wang Jian-She, Weghuber Daniel, Wortmann Saskia
Аннотация
METHODS: Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data.
RESULTS: In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals; 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency.
CONCLUSION: In most patients, TRMU-associated ALF was a transient, reversible disease and cysteine supplementation improved survival.