A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?
Citrin deficiency initially presents as neonatal intrahepatic cholestasis (NICCD) and often resolves within first year of infancy. Failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) has been recently proposed as a novel post-NICCD phenotype and its clinical features are still be...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-09-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2019.00371/full |
| _version_ | 1818298972780888064 |
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| author | Jiayi He Jianling Zhang Xuesong Li Hong Wang Cui Feng Feng Fang Sainan Shu |
| author_facet | Jiayi He Jianling Zhang Xuesong Li Hong Wang Cui Feng Feng Fang Sainan Shu |
| author_sort | Jiayi He |
| collection | DOAJ |
| description | Citrin deficiency initially presents as neonatal intrahepatic cholestasis (NICCD) and often resolves within first year of infancy. Failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) has been recently proposed as a novel post-NICCD phenotype and its clinical features are still being established. Herein, we encountered a 2-year-old girl who was hospitalized for intermittent fever lasting 10 days. Besides pneumonia, we observed an NICCD-like phenotype with the presence of liver dysfunction, dyslipidemia, aminoacidemia, organic academia, and extremely high levels of alpha-fetoprotein (AFP). Genetic testing confirmed the diagnosis of citrin deficiency and, liver histology revealed she had already developed cirrhosis. Although, improvement of biochemical parameters and liver histology were observed after treatment that included dietary restrictions and symptomatic treatments, AFP levels remained elevated (>400 ng/ml) during a 3-year follow-up period. Moreover, liver magnetic resonance imaging (MRI) examination performed on the patient at age 5 revealed the development of multiple liver nodules with diffusion restriction on diffusion-weighted imaging (DWI). These observations highly indicate the possibility of hepatocellular carcinoma (HCC). Thus, this case reveals that an NICCD-like phenotype complicated with cirrhosis can exist during FTTDCD stage without any prior signs. It also emphasizes the necessity of monitoring AFP levels during follow-up for citrin deficiency patients with persistently high AFP level after treatment as FTTDCD may progress to HCC. Individualized treatment strategy for patients with FTTDCD also need to be explored. |
| first_indexed | 2024-12-13T04:43:49Z |
| format | Article |
| id | doaj.art-9ac00197381748228c21531a71091ede |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-13T04:43:49Z |
| publishDate | 2019-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-9ac00197381748228c21531a71091ede2022-12-21T23:59:13ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602019-09-01710.3389/fped.2019.00371467566A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?Jiayi He0Jianling Zhang1Xuesong Li2Hong Wang3Cui Feng4Feng Fang5Sainan Shu6Department of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Radiology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaCitrin deficiency initially presents as neonatal intrahepatic cholestasis (NICCD) and often resolves within first year of infancy. Failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) has been recently proposed as a novel post-NICCD phenotype and its clinical features are still being established. Herein, we encountered a 2-year-old girl who was hospitalized for intermittent fever lasting 10 days. Besides pneumonia, we observed an NICCD-like phenotype with the presence of liver dysfunction, dyslipidemia, aminoacidemia, organic academia, and extremely high levels of alpha-fetoprotein (AFP). Genetic testing confirmed the diagnosis of citrin deficiency and, liver histology revealed she had already developed cirrhosis. Although, improvement of biochemical parameters and liver histology were observed after treatment that included dietary restrictions and symptomatic treatments, AFP levels remained elevated (>400 ng/ml) during a 3-year follow-up period. Moreover, liver magnetic resonance imaging (MRI) examination performed on the patient at age 5 revealed the development of multiple liver nodules with diffusion restriction on diffusion-weighted imaging (DWI). These observations highly indicate the possibility of hepatocellular carcinoma (HCC). Thus, this case reveals that an NICCD-like phenotype complicated with cirrhosis can exist during FTTDCD stage without any prior signs. It also emphasizes the necessity of monitoring AFP levels during follow-up for citrin deficiency patients with persistently high AFP level after treatment as FTTDCD may progress to HCC. Individualized treatment strategy for patients with FTTDCD also need to be explored.https://www.frontiersin.org/article/10.3389/fped.2019.00371/fullcitrin deficiencyfailure to thrive and dyslipidemia caused by citrin deficiencySLC25A13alpha-fetoproteinhepatocellular carcinoma |
| spellingShingle | Jiayi He Jianling Zhang Xuesong Li Hong Wang Cui Feng Feng Fang Sainan Shu A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? Frontiers in Pediatrics citrin deficiency failure to thrive and dyslipidemia caused by citrin deficiency SLC25A13 alpha-fetoprotein hepatocellular carcinoma |
| title | A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? |
| title_full | A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? |
| title_fullStr | A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? |
| title_full_unstemmed | A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? |
| title_short | A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? |
| title_sort | case report can citrin deficiency lead to hepatocellular carcinoma in children |
| topic | citrin deficiency failure to thrive and dyslipidemia caused by citrin deficiency SLC25A13 alpha-fetoprotein hepatocellular carcinoma |
| url | https://www.frontiersin.org/article/10.3389/fped.2019.00371/full |
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