Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1β Deficiency in Adulthood : A Case Report
© 2024 Authors..
Hepatocyte nuclear factor 1β (HNF1β) is essential for biliary development, while its genetic defect triggers the dysplasia of interlobular bile ducts, leading to life-threatening hepatitis and cholestasis. To date, this disorder has mainly been documented in neonates. Here, we report a case of cholestasis in an adult patient caused by a de novo HNF1β mutation. A liver biopsy revealed remarkable shrinkage of the portal area accompanied by a decrease or absence of interlobular bile ducts, veins, and arteries in the portal area. Our case showed that an HNF1β defect could induce late-onset cholestasis with paucity of the portal area in adulthood.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:12 |
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| Enthalten in: |
Journal of clinical and translational hepatology - 12(2024), 3 vom: 28. März, Seite 327-331 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Zhang, Xuemei [VerfasserIn] |
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| Links: |
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| Themen: |
Adult patient |
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| Anmerkungen: |
Date Revised 02.03.2024 published: Print-Electronic Citation Status PubMed-not-MEDLINE |
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| doi: |
10.14218/JCTH.2023.00464 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM369160894 |
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| 520 | |a Hepatocyte nuclear factor 1β (HNF1β) is essential for biliary development, while its genetic defect triggers the dysplasia of interlobular bile ducts, leading to life-threatening hepatitis and cholestasis. To date, this disorder has mainly been documented in neonates. Here, we report a case of cholestasis in an adult patient caused by a de novo HNF1β mutation. A liver biopsy revealed remarkable shrinkage of the portal area accompanied by a decrease or absence of interlobular bile ducts, veins, and arteries in the portal area. Our case showed that an HNF1β defect could induce late-onset cholestasis with paucity of the portal area in adulthood | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Adult patient | |
| 650 | 4 | |a Case report | |
| 650 | 4 | |a Cholestasis | |
| 650 | 4 | |a HNF1β | |
| 650 | 4 | |a Paucity of the portal area | |
| 650 | 4 | |a Renal cysts | |
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| 700 | 1 | |a Lu, Xiaona |e verfasserin |4 aut | |
| 700 | 1 | |a Zheng, Wenlan |e verfasserin |4 aut | |
| 700 | 1 | |a Shi, Jia |e verfasserin |4 aut | |
| 700 | 1 | |a Yu, Shihan |e verfasserin |4 aut | |
| 700 | 1 | |a Feng, Hai |e verfasserin |4 aut | |
| 700 | 1 | |a Yu, Zhuo |e verfasserin |4 aut | |
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