Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver–Kidney Transplantation for Primary Hyperoxaluria Type 1

Abstract

Primary hyperoxaluria type I (PH1), the most severe form of primary hyperoxalurias, is a liver disease of the metabolic defect in glyoxylate detoxification that can be corrected by liver transplantation. A 21-year-old man presented to our center after 4 months of regular hemodialysis for kidney failure caused by nephrolithiasis. A diagnosis of PH1 was confirmed by mutations of the AGXT gene. Left lateral sectionectomy of the native liver was performed; and auxiliary partial orthotopic liver transplantation (APOLT) and kidney transplantation were carried out synchronously using a living donor. After transplantation, the patient's plasma oxalate and creatinine levels substantially decreased and the patient recovered well with good dual grafts function. APOLT and kidney transplantation can compensate the liver deficient in liver enzyme production and aid the renal elimination of oxalate, thus serving as an effective treatment option for patients with PH1. In conclusion, left lateral sectionectomy of the native liver and combined living-related liver–kidney transplantation can be a surgical option for PH1.

A Putative Mutation Hotspot of the <i>AGXT </i>Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population

“…Incidentally, the mutation, c.815_816insGA (p.S275Rfs*38), was found in the four patients of the present study (4/8 alleles, see Table 2). This mutation was also found in the four patients reported in the previous studies; each of them is a compound heterozygote of c.815_816insGA (p.S275Rfs*38) and either c.33_34insC (p.K12Qfs*156) (Yuen et al 2004), c.242C > A (p.S81X) (Li et al 2014), c.346G>A (p.G116R) (Chen et al 2015), or c.364C>T(p.R122X) (Cui et al 2017). Thus, among the 41 mutant alleles, the c.815_816insGA (p.S275Rfs*38) accounts for 8 alleles (8/41 alleles), suggesting that the c.815_816insGA mutation could be a common variant in Chinese population.…”

“…Total 19 genetically diagnosed patients with PH1 were reported in Chinese population (Coulter-Mackie et al 2001Yuen et al 2004;Li et al 2014;Chen et al 2015;Wang et al 2016;Gao et al 2017;Cui et al 2017;Du et al 2018), including one Chinese mixed-Canadian patient (Coulter-Mackie et al 2001). Among the 19 patients, three patients are family members (Wang et al 2016).…”

“…Patient 2 is heterozygous for the c.473C>T (p.S158L) and c.815_816insGA mutations, and her condition became very serious. In fact, the severity of patients harboring the c.815_816insGA are various (Yuen et al 2004;Li et al 2014;Chen et al 2015;Cui et al 2017), and a Saudi PH1 patient who is homozygous for the c.473C>T (p.S158L) allele developed ESRD and underwent combined liver-kidney transplantation (Alkhunaizi et al 2012). Patient 3 is homozygous for the c.815_816insGA mutation, and Patient 4 is homozygous for the c.614C>T (p.S205L) mutation.…”

“…S275Rfs*38 (Yuen et al 2004;Li et al 2014;Chen et al 2015;Cui et al 2017). The two missense variants (p.S158L and p.S205L) are predicted to be "probably damaging" and "disease causing," respectively, by PolyPhen-2.0 and MutationTaster.…”

“…In Tunisia, PH1 accounts for 13.5% of all cases of ESRD in children, and 0.7% of all such cases in North America (Kamoun and Lakhoua 1996). To the best of our knowledge, however, only 19 patients with PH1 have been reported in Chinese population (Coulter-Mackie et al 2001Yuen et al 2004;Li et al 2014;Chen et al 2015;Wang et al 2016;Gao et al 2017;Cui et al 2017;Du et al 2018). These PH1 patients were found in PubMed (https:// www.ncbi.nlm.nih.gov/pubmed/) by searching the keywords: primary hyperoxaluria type 1, China, Chinese, and AGXT.…”