AUTHOR=Li Jia-Qi , Feng Jia-Yan , Gong Ying , Li Wang-Qiang , Liu Teng 

TITLE=Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1236239

DOI=10.3389/fped.2023.1236239

ISSN=2296-2360

ABSTRACT=<p><italic>DGUOK</italic> deficiency has primarily been associated with lethal hepatic failure with or without hypotonia, nystagmus, and psychomotor retardation, features typical of mitochondrial disease. A study in 3 Turkish children identified homozygosity for a variant in <italic>DGUOK</italic> as associated with idiopathic non-cirrhotic portal hypertension (INCPH). However, no further instances of INCPH associated with <italic>DGUOK</italic> variants have been reported. We here describe a fourth patient with <italic>DGUOK</italic> variants and childhood-onset INCPH, a 12-year-old Han Chinese boy, reporting clinical manifestations, histopathologic findings, and results of genetic studies. The child presented with hepatosplenomegaly; portal hypertension and hypersplenism were found. Vascular changes with hepatic fibrosis (Scheuer score 3) were observed on liver biopsy. Whole-exome sequencing and family analyses revealed compound heterozygosity for the <italic>DGUOK</italic> (NM_080916.3) variants c.778_781dup, (p.Thr261Serfs*28) and c.831_832del, (p.*278Thrfs*9) in the proband. These observations support ascription of instances of INCPH in children to variation in <italic>DGUOK</italic>.</p>