Mariam Youssef, Katherine L Mascia, Brendan McGuire, Chirag R Patel, Sameer Al Diffalha, Deepti Dhall, Goo Lee
{"title":"低γ-谷氨酰转肽酶(GGT)淤积、急性肝衰竭和神经退行性变综合征:1例成年早期肝移植术后3年随访报告","authors":"Mariam Youssef, Katherine L Mascia, Brendan McGuire, Chirag R Patel, Sameer Al Diffalha, Deepti Dhall, Goo Lee","doi":"10.1155/2023/3010131","DOIUrl":null,"url":null,"abstract":"<p><p>CALFAN syndrome is an extremely rare disease consisting of recurrent pediatric acute liver failure (PALF), neurodegenerative diseases, and skeletal abnormalities associated with <i>SCYL1</i> gene mutation. To date, three of 18 patients reported underwent liver transplantation in infancy and early childhood (7-23 months). Here, we report a case of CALFAN syndrome with infantile onset, recurrent jaundice/PALF requiring liver transplantation in early adulthood. At the most recent follow-up, 3 years after transplantation, the patient is doing well.</p>","PeriodicalId":30295,"journal":{"name":"Case Reports in Hepatology","volume":"2023 ","pages":"3010131"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406563/pdf/","citationCount":"0","resultStr":"{\"title\":\"CALFAN (Low <i>γ</i>-Glutamyl Transpeptidase (GGT) Cholestasis, Acute Liver Failure, and Neurodegeneration) Syndrome: A Case Report with 3-Year Follow-Up after Liver Transplantation in Early Adulthood.\",\"authors\":\"Mariam Youssef, Katherine L Mascia, Brendan McGuire, Chirag R Patel, Sameer Al Diffalha, Deepti Dhall, Goo Lee\",\"doi\":\"10.1155/2023/3010131\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>CALFAN syndrome is an extremely rare disease consisting of recurrent pediatric acute liver failure (PALF), neurodegenerative diseases, and skeletal abnormalities associated with <i>SCYL1</i> gene mutation. To date, three of 18 patients reported underwent liver transplantation in infancy and early childhood (7-23 months). Here, we report a case of CALFAN syndrome with infantile onset, recurrent jaundice/PALF requiring liver transplantation in early adulthood. At the most recent follow-up, 3 years after transplantation, the patient is doing well.</p>\",\"PeriodicalId\":30295,\"journal\":{\"name\":\"Case Reports in Hepatology\",\"volume\":\"2023 \",\"pages\":\"3010131\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406563/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Hepatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2023/3010131\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Hepatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2023/3010131","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
CALFAN (Low γ-Glutamyl Transpeptidase (GGT) Cholestasis, Acute Liver Failure, and Neurodegeneration) Syndrome: A Case Report with 3-Year Follow-Up after Liver Transplantation in Early Adulthood.
CALFAN syndrome is an extremely rare disease consisting of recurrent pediatric acute liver failure (PALF), neurodegenerative diseases, and skeletal abnormalities associated with SCYL1 gene mutation. To date, three of 18 patients reported underwent liver transplantation in infancy and early childhood (7-23 months). Here, we report a case of CALFAN syndrome with infantile onset, recurrent jaundice/PALF requiring liver transplantation in early adulthood. At the most recent follow-up, 3 years after transplantation, the patient is doing well.
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