Subramanian Navaneethan, Yadav Abhishek, Kumar Jithin S, Abraham George P
Comprehensive Liver Care Institute, VPS Lakeshore Hospital and Research Centre, Kochi, Kerala, India.
Nephrology and Renal Transplant Services, VPS Lakeshore Hospital and Research Centre, Kochi, Kerala, India.
J Clin Exp Hepatol. 2024 Sep-Oct;14(5):101425. doi: 10.1016/j.jceh.2024.101425. Epub 2024 Apr 16.
Primary type 2 hyperoxaluria is a very rare genetic disorder, where in the progression to renal failure was assumed to be insidious and not very common. PH2 is due to deficient glyoxylate reductase/hydroxypyruvate reductase (GRHPR), which was thought to have extra-hepatic production also. 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..
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.
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.
原发性2型高草酸尿症是一种非常罕见的遗传性疾病，其进展为肾衰竭的过程被认为是隐匿的且不太常见。PH2是由于乙醛酸还原酶/羟基丙酮酸还原酶（GRHPR）缺乏所致，人们认为该酶在肝外也有产生。这些患者亚组进展为肾衰竭在文献中有充分记载，而同期肝肾联合移植（SLK）的作用尚未明确确立。
我们报告一例患有PH2的年轻女孩的病例，她成功接受了SLK，术后尿草酸水平有下降的证据。
PH2虽是一种罕见的遗传性疾病，但已证实有进展为需要移植的慢性肾衰竭的可能，单独进行肾移植未显示出任何益处，这些患者可作为主要治疗选择接受SLK，以改善治疗效果，这需要通过共识和研究进一步验证。
