Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child
DGUOK 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 DGUOK as associated with idiopathic non-cirr...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-09-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1236239/full |
| _version_ | 1797671870187700224 |
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| author | Jia-Qi Li Jia-Yan Feng Ying Gong Wang-Qiang Li Teng Liu |
| author_facet | Jia-Qi Li Jia-Yan Feng Ying Gong Wang-Qiang Li Teng Liu |
| author_sort | Jia-Qi Li |
| collection | DOAJ |
| description | DGUOK 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 DGUOK as associated with idiopathic non-cirrhotic portal hypertension (INCPH). However, no further instances of INCPH associated with DGUOK variants have been reported. We here describe a fourth patient with DGUOK 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 DGUOK (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 DGUOK. |
| first_indexed | 2024-03-11T21:21:47Z |
| format | Article |
| id | doaj.art-41834ae28eb04311a73cd96645c9e522 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-11T21:21:47Z |
| publishDate | 2023-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-41834ae28eb04311a73cd96645c9e5222023-09-28T05:29:38ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-09-011110.3389/fped.2023.12362391236239Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese childJia-Qi Li0Jia-Yan Feng1Ying Gong2Wang-Qiang Li3Teng Liu4The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaDepartment of Pathology, Children’s Hospital of Fudan University, Shanghai, ChinaDepartment of Radiology, Children’s Hospital of Fudan University, Shanghai, ChinaDepartment of Infectious Diseases, Anhui Provincial Children’s Hospital, Hefei, ChinaThe Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaDGUOK 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 DGUOK as associated with idiopathic non-cirrhotic portal hypertension (INCPH). However, no further instances of INCPH associated with DGUOK variants have been reported. We here describe a fourth patient with DGUOK 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 DGUOK (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 DGUOK.https://www.frontiersin.org/articles/10.3389/fped.2023.1236239/fullcase reportDGUOKgenetic variantidiopathic non-cirrhotic portal hypertensionmitochondrial depletion syndromeporto-sinusoidal vascular disorder |
| spellingShingle | Jia-Qi Li Jia-Yan Feng Ying Gong Wang-Qiang Li Teng Liu Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child Frontiers in Pediatrics case report DGUOK genetic variant idiopathic non-cirrhotic portal hypertension mitochondrial depletion syndrome porto-sinusoidal vascular disorder |
| title | Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child |
| title_full | Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child |
| title_fullStr | Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child |
| title_full_unstemmed | Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child |
| title_short | Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child |
| title_sort | case report novel dguok variants associated with idiopathic non cirrhotic portal hypertension in a han chinese child |
| topic | case report DGUOK genetic variant idiopathic non-cirrhotic portal hypertension mitochondrial depletion syndrome porto-sinusoidal vascular disorder |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1236239/full |
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