Hyperoxaluria and Rapid Development of Renal Failure Following a Combined Liver and Kidney Transplantation: Emphasis on Sequential Transplantation

Alkhunaizi, Ahmed M.; Al‐Sannaa, Nouriya; Raslan, Wasim F.

doi:10.1007/8904_2011_67

Cited by 12 publications

(12 citation statements)

References 21 publications

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“…The V339 is not well conserved among species (Table 4). The other three pathogenic variants were previously reported: c.473C>T (p.S158L) (Alkhunaizi et al 2012), c.614C>T (p.S205L) (Williams et al 2009), and p.…”

Section: Features Of the Identified Mutationsmentioning

confidence: 88%

“…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. The c.473C>T (p.S158L) mutation was found in a late-onset Saudi PH1 patient who is homozygous for this allele (Alkhunaizi et al 2012); the patient developed ESRD and underwent combined liver-kidney transplantation. In addition, the p.S205L variant was shown to have 3% in vitro enzyme activity (% normal control) Table 3.…”

Section: Features Of the Identified Mutationsmentioning

confidence: 99%

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

Yang

et al. 2018

Tohoku J. Exp. Med.

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Primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, is characterized by renal stones, nephrocalcinosis, and chronic kidney disease. PH1 is caused by defects in alanine glyoxylate aminotransferase (AGT, 392 amino-acid residues), which is encoded by the alanine-glyoxylate and serinepyruvate aminotransferase (AGXT) gene. This study aimed to determine the clinical, biochemical, and mutation spectrum of patients with PH1 from mainland China. Four patients (two adults and two children, age range: 1 to 34 years) from four unrelated families were admitted because of kidney stones. The adult patients had chronic kidney disease, while the pediatric patients retained the normal kidney function. Four mutations of the AGXT gene were detected, including one novel mutation, c.1015delG (p.V339Sfs*2). One adult male with late-onset PH1 is a compound heterozygote of the c.815_816insGA (p.S275Rfs*38) and c.1015delG (p.V339Sfs*2) mutations. These frame-shift mutations could result in the production of truncated AGT proteins. Other patients include an adult female who is heterozygous for c.473C>T (p. S158L) and c.815_816insGA mutations and two boys that are respectively homozygous for the c.815_816insGA mutation and for the c.614C>T (p.S205L) mutation. Thus, the c.815_816insGA mutation accounts for 4/8 alleles in the present study; importantly, the position c.815 represents the 5′-end of the consecutive wild-type sequence of GAGAGAGA. In conclusion, we describe one novel mutation, c.1015delG, and a common mutation, c.815_816insGA, of the AGXT gene among four unrelated families with PH1. Moreover, we suggest that the short repeat of the GA dinucleotide may represent a mutation hotspot in the Chinese population.

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Section: Features Of the Identified Mutationsmentioning

confidence: 88%

Section: Features Of the Identified Mutationsmentioning

confidence: 99%

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

Yang

et al. 2018

Tohoku J. Exp. Med.

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“…In all PH1 patients, it is worthwhile to perform a hemodialysis immediately prior to CLKT . It appears reasonable to target maintenance plasma oxalate levels of <30 μ m post‐hemodialysis . Furthermore, it is necessary to provide a high fluid intake and crystallization inhibitors postoperatively to prevent disease recurrence in the new kidney.…”

Section: Pre‐ and Postoperative Managementmentioning

confidence: 99%

Review of combined liver and kidney transplantation in children

Ganschow

Höppe²

2015

Pediatric Transplantation

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In this review, we focused on CLKT with regard to indication, results, outcome, and future developments. PH1 is one of the most common diagnoses for adult and pediatric patients qualifying for CLKT. The other major indication for combined transplantation is ARPKD. CLKT appears to be superior to sequential liver and kidney transplantation in the majority of patients and overall results following CLKT are now good, even in small children. Clinical observations suggest that there is an immunological advantage of CLKT in comparison with isolated liver or kidney transplantation. More clinical studies are necessary to identify the best candidates for CLKT while the availability of donor organs is low.

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“…Even after combined liver and kidney transplantation, the levels of systemic oxalate can remain dangerously elevated as tissue deposits continue to mobilize even after oxalate overproduction ceases. Without additional intervention, it can take several months and sometimes years before the plasma oxalate concentration normalizes, posing an ongoing risk of damaging nephrolithiasis and nephrocalcinosis in the newly transplanted kidneys as well as accelerated graft failure . As the calcium oxalate accumulates primarily in the kidneys, native kidneys become a substantial reservoir of residual calcium oxalate in the post‐transplant period.…”

Section: Introductionmentioning

confidence: 99%

Bilateral native nephrectomy reduces systemic oxalate level after combined liver‐kidney transplant: A case report

Villani

Gupta

Elias

et al. 2017

Pediatric Transplantation

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Primary hyperoxaluria type 1 (PH1) is a rare liver enzymatic defect that causes overproduction of plasma oxalate. Accumulation of oxalate in the kidney and subsequent renal failure are fatal to PH1 patients often in pediatric age. Combined liver and kidney transplantation is the therapy of choice for end-stage renal disease due to PH1. Levels of plasma oxalate remain elevated for several months after liver transplantation, as the residual body oxalate is slowly excreted. Patients with persistent hyperoxaluria after transplant often require hemodialysis, and accumulation of residual oxalate in the kidney can induce graft dysfunction. As the native kidneys are the main target of calcium oxalate accumulation, we postulated that removal of native kidneys could drastically decrease total body oxalate levels after transplantation. Here, we report a case of bilateral nephrectomy at the time of combined liver-kidney transplantation in a pediatric PH1 patient. Bilateral nephrectomy induced a rapid decrease in plasma oxalate to normal levels in less than 20 days, compared to the several months reported in the literature. Our results suggest that removal of native kidneys could be an effective strategy to decrease the need for hemodialysis and the risk of renal dysfunction after combined liver-kidney transplantation in patients with PH1.

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Hyperoxaluria and Rapid Development of Renal Failure Following a Combined Liver and Kidney Transplantation: Emphasis on Sequential Transplantation

Cited by 12 publications

References 21 publications

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

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

Review of combined liver and kidney transplantation in children

Bilateral native nephrectomy reduces systemic oxalate level after combined liver‐kidney transplant: A case report

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