PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■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，在肾衰竭的进展中被认为是隐伏的，并不常见。3PH2是由于乙醛酸还原酶/羟基丙酮酸还原酶（GRHPR）缺陷，1,2，这被认为具有肝外产生4。这些患者亚组的肾功能衰竭进展在文献中有很好的记载，SLK（同时进行肝脏和肾脏移植）的作用尚未明确确立。8。
■我们提供了一个PH2的年轻女孩成功接受SLK的病例报告，有证据表明SLK后尿草酸盐水平降低。
■PH2，虽然是一种罕见的遗传病，已经证明有可能发展为需要移植的慢性肾衰竭，单独的肾移植没有任何益处，这些患者可以提供SLK作为主要治疗选择，为了改善结果，这需要共识和研究进一步验证.
■我们提供了一个PH2的年轻女孩成功接受SLK的病例报告，有证据表明SLK后尿草酸盐水平降低。
■PH2，虽然是一种罕见的遗传病，已经证明有可能发展为需要移植的慢性肾衰竭，单独的肾移植没有任何益处，这些患者可以提供SLK作为主要治疗选择，为了改善结果，这需要共识和研究进一步验证.
