@misc{10481/93588,
year = {2024},
month = {6},
url = {https://hdl.handle.net/10481/93588},
abstract = {Idiosyncratic drug-induced liver injury (DILI) is a complex multifactorial disease in which
the toxic potential of the drug, together with genetic and acquired factors and deficiencies in adaptive
processes, which limit the extent of damage, may determine susceptibility and make individuals
unique in their development of hepatotoxicity. In our study, we sequenced the exomes of 43 pediatric
patients diagnosed with DILI to identify important gene variations associated with this pathology.
The result showed the presence of two variations in the NAT2 gene: c.590G>A (p.Arg197Gln) and
c.341T>C (p.Ile114Thr). These variations could be found separately or together in 41 of the 43 patients
studied. The presence of these variations as a risk factor for DILI could confirm the importance of the
acetylation pathway in drug metabolism.},
organization = {Institute of Health Carlos III (PI17/01989)},
organization = {Servicio Andaluz de Salud (F2-0071-2015 and F1-0008-2022)},
publisher = {MDPI},
keywords = {DILI},
keywords = {whole-exome sequencing},
keywords = {risk factors},
title = {N-acetyltransferase Gene Variants Involved in Pediatric Idiosyncratic Drug-Induced Liver Injury},
doi = {10.3390/biomedicines12061288},
author = {Alés Palmer, María Luisa and Andujar Vera, Francisco and Iglesias Baena, Iván and Muñoz de Rueda, Paloma and Ocete Hita, Esther},
}