دورية أكاديمية
Youngest Living Donor Liver Transplant for End-Stage Liver Disease in a 6-Month-Old With a Novel Aggressive Mutation in KIF12 Gene.
| العنوان: | Youngest Living Donor Liver Transplant for End-Stage Liver Disease in a 6-Month-Old With a Novel Aggressive Mutation in KIF12 Gene. |
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| المؤلفون: | Gautam V; Department of Pediatric Hepatology, Centre for Liver and Biliary Sciences, Max Super Speciality Hospital, New Delhi, India., Panda K; Pediatric Hepatology Division, Institute of Medical Sciences & SUM Hospital, Bhubaneswar, India., Kumar V; Department of Pediatric Hepatology, Centre for Liver and Biliary Sciences, Max Super Speciality Hospital, New Delhi, India., Agarwal S; Department of Liver Transplant Surgery, Centre for Liver and Biliary Sciences, Max Super Speciality Hospital, New Delhi, India., Gupta S; Department of Liver Transplant Surgery, Centre for Liver and Biliary Sciences, Max Super Speciality Hospital, New Delhi, India. |
| المصدر: | Pediatric transplantation [Pediatr Transplant] 2024 Aug; Vol. 28 (5), pp. e14804. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Copenhagen ; Malden, MA : Munksgaard, c1997- |
| مواضيع طبية MeSH: | Liver Transplantation* , Kinesins*/genetics , Living Donors* , Cholestasis, Intrahepatic*/genetics , Cholestasis, Intrahepatic*/surgery , Mutation* , End Stage Liver Disease*/surgery , End Stage Liver Disease*/genetics, Humans ; Male ; Infant |
| مستخلص: | Background: Kinesin family member 12 (KIF12) mutation-related cholestatic disorder represents a rare subtype of progressive familial intrahepatic cholestasis (PFIC), referred to as PFIC Type 8, with only 21 reported cases globally to date. Methods: Here, we present a unique case of a 6-month-old boy diagnosed with homozygous KIF12 gene mutation, who successfully underwent a living donor liver transplant at our center for end-stage liver disease. Results: This case marks the youngest patient of KIF12-related cholestatic disorder necessitating a liver transplant to date. The child initially presented with neonatal cholestasis and then developed infantile hepatic decompensation. Our report discusses the diagnostic process and management strategies employed. It underscores the importance of prompt diagnosis through clinical suspicion, biochemical parameters, and genetic testing, as well as the adoption of suitable management strategies, including the early contemplation of liver transplant in such exceptional and rare cases of genetic intrahepatic cholestasis. Conclusion: KIF12-related genetic disease should be considered in neonatal cholestasis cases with high gamma glutamyl transpeptidase to differentiate from conditions like biliary atresia. Favorable outcomes post liver transplant stress the importance of early genetic testing and referral to liver transplant centers for unresponsive patients, potentially saving lives. (© 2024 Wiley Periodicals LLC.) |
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| فهرسة مساهمة: | Keywords: KIF12; intrahepatic cholestasis; liver transplant; pediatric |
| المشرفين على المادة: | EC 3.6.4.4 (Kinesins) |
| SCR Disease Name: | Cholestasis, progressive familial intrahepatic 1 |
| تواريخ الأحداث: | Date Created: 20240609 Date Completed: 20240609 Latest Revision: 20240620 |
| رمز التحديث: | 20240620 |
| DOI: | 10.1111/petr.14804 |
| PMID: | 38853137 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1399-3046 |
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| DOI: | 10.1111/petr.14804 |