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。

IF 3.3 Q2 GASTROENTEROLOGY & HEPATOLOGY Journal of Clinical and Experimental Hepatology Pub Date : 2024-04-16 DOI:10.1016/j.jceh.2024.101425
Navaneethan Subramanian , Abhishek Yadav , Jithin S. Kumar , George P. Abraham
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引用次数: 0

摘要

背景原发性2型高草酸尿症是一种非常罕见的遗传性疾病,1,2 其中肾功能衰竭的进展被认为是隐匿的,并不常见。这些亚组患者发展为肾衰竭的情况在文献中已有详细记载,而 SLK(同时进行肝脏和肾脏移植)的作用尚未明确确定。结果PH2 虽然是一种罕见的遗传性疾病,但已被证实有可能发展为慢性肾功能衰竭,需要进行移植手术,而单独进行肾移植手术并未显示出任何益处,这些患者可选择 SLK 作为主要治疗方案,以改善预后,但这需要进一步的共识和研究来验证。
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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.

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来源期刊
Journal of Clinical and Experimental Hepatology
Journal of Clinical and Experimental Hepatology GASTROENTEROLOGY & HEPATOLOGY-
CiteScore
4.90
自引率
16.70%
发文量
537
审稿时长
64 days
期刊最新文献
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