Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease
Congenital hepatic fibrosis (CHF) is considered to be a rare autosomal recessive hereditary fibrocystic liver disease, mainly found in children. However, cases of adult CHF with autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 gene mutation are extremely rare. We report a 31-year-...
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Frontiers Media S.A.
2024-02-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2024.1344151/full |
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| author | Ying Liu Ying Liu Ying Liu Ping Zhu Ping Zhu Ping Zhu Jiajun Tian Jiajun Tian Jiajun Tian |
| author_facet | Ying Liu Ying Liu Ying Liu Ping Zhu Ping Zhu Ping Zhu Jiajun Tian Jiajun Tian Jiajun Tian |
| author_sort | Ying Liu |
| collection | DOAJ |
| description | Congenital hepatic fibrosis (CHF) is considered to be a rare autosomal recessive hereditary fibrocystic liver disease, mainly found in children. However, cases of adult CHF with autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 gene mutation are extremely rare. We report a 31-year-old female patient admitted for esophageal and gastric variceal bleeding. Physical examination revealed significant splenomegaly, biochemical tests showed a slight increase in liver enzymes, and a decrease in platelet count. Imaging examinations showed significant dilatation of the common bile duct and intrahepatic bile ducts, as well as multiple renal cysts. Liver biopsy revealed enlarged portal areas, bridging fibrosis, and numerous variably shaped small bile ducts. Genetic testing identified two unique mutations in the PKD1 gene, identified as biallelic mutations compound heterozygous mutations composed of a mutation inherited from the father (c.8296 T > C) and one from the mother (c.9653G > C). Based on multiple test results, the patient was diagnosed with the portal hypertension type CHF associated with ADPKD. During her initial hospital stay, the patient underwent endoscopic treatment for gastrointestinal bleeding. To date, the patient has recovered well. Moreover, a significant reduction in varices was observed in a gastroscopy examination 18 months later. |
| first_indexed | 2024-03-08T05:14:53Z |
| format | Article |
| id | doaj.art-32eeca11c0e246f3b52ecae6577a04b9 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-03-08T05:14:53Z |
| publishDate | 2024-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Medicine |
| spelling | doaj.art-32eeca11c0e246f3b52ecae6577a04b92024-02-07T04:34:11ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2024-02-011110.3389/fmed.2024.13441511344151Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney diseaseYing Liu0Ying Liu1Ying Liu2Ping Zhu3Ping Zhu4Ping Zhu5Jiajun Tian6Jiajun Tian7Jiajun Tian8Department of Gastroenterology and Hepatology, Tianjin Third Central Hospital, Tianjin, ChinaTianjin Key Laboratory of Extracorporeal Life Support for Critical Diseases, Tianjin, ChinaArtificial Cell Engineering Technology Research Center, Tianjin Institute of Hepatobiliary Disease, Tianjin, ChinaDepartment of Gastroenterology and Hepatology, Tianjin Third Central Hospital, Tianjin, ChinaTianjin Key Laboratory of Extracorporeal Life Support for Critical Diseases, Tianjin, ChinaArtificial Cell Engineering Technology Research Center, Tianjin Institute of Hepatobiliary Disease, Tianjin, ChinaDepartment of Gastroenterology and Hepatology, Tianjin Third Central Hospital, Tianjin, ChinaTianjin Key Laboratory of Extracorporeal Life Support for Critical Diseases, Tianjin, ChinaArtificial Cell Engineering Technology Research Center, Tianjin Institute of Hepatobiliary Disease, Tianjin, ChinaCongenital hepatic fibrosis (CHF) is considered to be a rare autosomal recessive hereditary fibrocystic liver disease, mainly found in children. However, cases of adult CHF with autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 gene mutation are extremely rare. We report a 31-year-old female patient admitted for esophageal and gastric variceal bleeding. Physical examination revealed significant splenomegaly, biochemical tests showed a slight increase in liver enzymes, and a decrease in platelet count. Imaging examinations showed significant dilatation of the common bile duct and intrahepatic bile ducts, as well as multiple renal cysts. Liver biopsy revealed enlarged portal areas, bridging fibrosis, and numerous variably shaped small bile ducts. Genetic testing identified two unique mutations in the PKD1 gene, identified as biallelic mutations compound heterozygous mutations composed of a mutation inherited from the father (c.8296 T > C) and one from the mother (c.9653G > C). Based on multiple test results, the patient was diagnosed with the portal hypertension type CHF associated with ADPKD. During her initial hospital stay, the patient underwent endoscopic treatment for gastrointestinal bleeding. To date, the patient has recovered well. Moreover, a significant reduction in varices was observed in a gastroscopy examination 18 months later.https://www.frontiersin.org/articles/10.3389/fmed.2024.1344151/fullPKD1 gene mutationcongenital hepatic fibrosisADPKDadult femalecase report |
| spellingShingle | Ying Liu Ying Liu Ying Liu Ping Zhu Ping Zhu Ping Zhu Jiajun Tian Jiajun Tian Jiajun Tian Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease Frontiers in Medicine PKD1 gene mutation congenital hepatic fibrosis ADPKD adult female case report |
| title | Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease |
| title_full | Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease |
| title_fullStr | Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease |
| title_full_unstemmed | Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease |
| title_short | Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease |
| title_sort | case report rare genetic liver disease a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease |
| topic | PKD1 gene mutation congenital hepatic fibrosis ADPKD adult female case report |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2024.1344151/full |
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