Navaneethan Subramanian , Abhishek Yadav , Jithin S. Kumar , George P. Abraham
{"title":"同时进行肝肾移植治疗原发性2型高草酸尿症伴矫正性TOF和严重心肌病:病例报告。","authors":"Navaneethan Subramanian , Abhishek Yadav , Jithin S. Kumar , George P. Abraham","doi":"10.1016/j.jceh.2024.101425","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Primary type 2 hyperoxaluria is a very rare genetic disorder,<sup>1,2</sup> where in the progression to renal failure was assumed to be insidious and not very common.<sup>3</sup> PH2 is due to deficient glyoxylate reductase/hydroxypyruvate reductase (GRHPR),<sup>1,2</sup> which was thought to have extra-hepatic production also.<sup>4</sup> The progression to renal failure in these patient subgroups is well documented in the Literature and the role of SLK (simultaneous liver and kidney transplantation) has not been clearly established.<sup>8</sup></p></div><div><h3>Method</h3><p>We present a case report of a young girl with PH2, who successfully underwent SLK, with evidence of reduction in the urine oxalate levels post SLK.</p></div><div><h3>Results</h3><p>PH2, though a rare genetic disease, has a proven potential to progress to chronic renal failure requiring transplantation, renal transplantation alone has not shown any benefit, these patients can be offered SLK as a primary treatment option, to improve the outcomes, this needs further validation with consensus and studies.</p></div>","PeriodicalId":15479,"journal":{"name":"Journal of Clinical and Experimental Hepatology","volume":null,"pages":null},"PeriodicalIF":3.3000,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Simultaneous Liver Kidney Transplantation in a Primary Type 2 Hyperoxaluria With Corrected TOF and Severe Cardiomyopathy: A Case Report\",\"authors\":\"Navaneethan Subramanian , Abhishek Yadav , Jithin S. Kumar , George P. Abraham\",\"doi\":\"10.1016/j.jceh.2024.101425\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>Primary type 2 hyperoxaluria is a very rare genetic disorder,<sup>1,2</sup> where in the progression to renal failure was assumed to be insidious and not very common.<sup>3</sup> PH2 is due to deficient glyoxylate reductase/hydroxypyruvate reductase (GRHPR),<sup>1,2</sup> which was thought to have extra-hepatic production also.<sup>4</sup> The progression to renal failure in these patient subgroups is well documented in the Literature and the role of SLK (simultaneous liver and kidney transplantation) has not been clearly established.<sup>8</sup></p></div><div><h3>Method</h3><p>We present a case report of a young girl with PH2, who successfully underwent SLK, with evidence of reduction in the urine oxalate levels post SLK.</p></div><div><h3>Results</h3><p>PH2, though a rare genetic disease, has a proven potential to progress to chronic renal failure requiring transplantation, renal transplantation alone has not shown any benefit, these patients can be offered SLK as a primary treatment option, to improve the outcomes, this needs further validation with consensus and studies.</p></div>\",\"PeriodicalId\":15479,\"journal\":{\"name\":\"Journal of Clinical and Experimental Hepatology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2024-04-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical and Experimental Hepatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0973688324000823\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical and Experimental Hepatology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0973688324000823","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
Simultaneous Liver Kidney Transplantation in a Primary Type 2 Hyperoxaluria With Corrected TOF and Severe Cardiomyopathy: A Case Report
Background
Primary type 2 hyperoxaluria is a very rare genetic disorder,1,2 where in the progression to renal failure was assumed to be insidious and not very common.3 PH2 is due to deficient glyoxylate reductase/hydroxypyruvate reductase (GRHPR),1,2 which was thought to have extra-hepatic production also.4 The progression to renal failure in these patient subgroups is well documented in the Literature and the role of SLK (simultaneous liver and kidney transplantation) has not been clearly established.8
Method
We present a case report of a young girl with PH2, who successfully underwent SLK, with evidence of reduction in the urine oxalate levels post SLK.
Results
PH2, though a rare genetic disease, has a proven potential to progress to chronic renal failure requiring transplantation, renal transplantation alone has not shown any benefit, these patients can be offered SLK as a primary treatment option, to improve the outcomes, this needs further validation with consensus and studies.