Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.

ABSTRACT: Recently, the mainstream curative treatment for primary hyperoxaluria type 1 (PH1) is combined liver and kidney transplantation, and only kidney transplantation is considered ineffective for most PH1 patients. Furthermore, vitamin B6 (B6) is the only permitted drug available for treatment. However, except for specific mutations such as G170R and F152I in gene AGXT, data of B6 effect on other mutations are lacking. Insufficient research has evaluated the efficacy of the combination of kidney transplantation and B6 treatment in the therapeutic strategy in PH1 patients. Here, we report a case of a 52-year-old male with frequent stone events and end-stage renal diseases (ESRD), and subsequently undergone kidney transplantation. Sudden rising of serum creatinine within two months after t

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC7807321 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature