Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure

Höppe, Bernd; Graf, Dorothee; Offner, G.; Latta, Kay; Byrd, Dennis J.; Michalk, Dietrich; Brodehl, J.

doi:10.1007/s004670050145

Cited by 92 publications

(53 citation statements)

References 8 publications

(3 reference statements)

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“…4,5 With advanced renal insufficiency and failure to excrete the metabolic end product oxalic acid, the disease turns into a lethal multisystemic condition making renal replacement therapy and subsequent liver-kidney transplantation mandatory. [6][7][8][9][10] Type II PH (PHII, MIM# 260000; gene GRHPR, MIM# 604296) is a result of deficient glyoxylate reductase/hydroxypyruvate reductase (GRHPR) enzyme activity. 11 In general, PHII shows a milder course with the absence of infantile oxalosis and ESRD occurring in about 20% of patients.…”

Section: Introductionmentioning

confidence: 99%

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

et al. 2012

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Identification of mutations in the HOGA1 gene as the cause of autosomal recessive primary hyperoxaluria (PH) type III has revitalized research in the field of PH and related stone disease. In contrast to the well-characterized entities of PH type I and type II, the pathophysiology and prevalence of type III is largely unknown. In this study, we analyzed a large cohort of subjects previously tested negative for type I/II by complete HOGA1 sequencing. Seven distinct mutations, among them four novel, were found in 15 patients. In patients of non-consanguineous European descent the previously reported c.700 þ 5G4T splice-site mutation was predominant and represents a potential founder mutation, while in consanguineous families private homozygous mutations were identified throughout the gene. Furthermore, we identified a family where a homozygous mutation in HOGA1 (p.P190L) segregated in two siblings with an additional AGXT mutation (p.D201E). The two girls exhibiting triallelic inheritance presented a more severe phenotype than their only mildly affected p.P190L homozygous father. In silico analysis of five mutations reveals that HOGA1 deficiency is causing type III, yet reduced HOGA1 expression or aberrant subcellular protein targeting is unlikely to be the responsible pathomechanism. Our results strongly suggest HOGA1 as a major cause of PH, indicate a greater genetic heterogeneity of hyperoxaluria, and point to a favorable outcome of type III in the context of PH despite incomplete or absent biochemical remission. Multiallelic inheritance could have implications for genetic testing strategies and might represent an unrecognized mechanism for phenotype variability in PH.

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Section: Introductionmentioning

confidence: 99%

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

et al. 2012

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“…Daily prolonged haemodialysis may at best be able to remove oxalate sufficiently effectively to slow the rate of accumulation but is probably not able to balance the rate of production [21, 22]. Renal transplantation alone does not correct the underlying metabolic defect but, in selected cases, with living donors to ensure an optimal early graft function and with appropriate careful post-operative medical management can produce good outcomes [18, 23, 24].…”

Section: Introductionmentioning

confidence: 99%

A 20-Year Experience of Combined Liver/Kidney Transplantation for Primary Hyperoxaluria (PH1): The European PH1 Transplant Registry Experience 1984–2004

Jamieson¹

2005

Am J Nephrol

159

106

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Primary hyperoxaluria (PH1) is a condition caused by a hepatic-based enzyme defect which can lead to renal failure due to oxalate stone disease, obstructive uropathy and nephrocalcinosis. It has been shown that the underlying metabolic defect can be corrected by liver transplantation and in most cases (renal failure having already occurred) is accompanied by a kidney graft. This paper describes the current results of 127 liver transplants performed in 117 patients over a 20-year period from 1984 to 2004 in 35 European centres. The mean age at onset of symptoms was 5.6 ± 7.8 years and the mean age at which a diagnosis was made was 8.8 ± 9.5 years. The diagnosis was confirmed by liver biopsy proven decreased AGT activity in 68% of cases, hyperoxaluria in 74%, hyperglycolicaciduria in 37% and hyperoxalaemia in 50%. Patients were transplanted at a mean age of 16.5 ± 11.4 years following a period of dialysis of 3.2 ± 3.2 years (range 0–14.4 years). 1-, 5- and 10-year patient survival values were 86, 80 and 69%, respectively, and liver graft survival rates of 80, 72 and 60% at the same time intervals. There have been 27 deaths and 10 liver retransplants have been carried out. Patient outcomes are improved when prolonged periods on dialysis and the complications of systemic oxalosis have not occurred.

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“…More and more oxalate is accumulated systemically, leading the severe systemic oxalosis [1, 10]. Hence, the time on dialysis has to be kept as short as possible [11].…”

Section: Introductionmentioning

confidence: 99%

Primary Hyperoxaluria – The German Experience

et al. 2005

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Background: Primary hyperoxaluria (PH) is a heterogeneous disease with variable age of onset and inconsistent progression into renal failure (ESRF). Aims: In 1994 we initiated a survey within our Pediatric Nephrology working group to ascertain epidemiologic data and current practices. Updates were performed in 2000 and 2004. Results: Diagnosis of PH was made in 65 patients (42 with PH type I, 3 with PH type II, 12 unclassified and 8 reported dead), which suggests a minimum prevalence of 0.7 per 1 million of the population. First symptoms were urolithiasis, nephrocalcinosis, urinary tract infection or hematuria. Diagnosis was often delayed and was made only in ESRF in 11% of patients. Measurement of urine metabolites or plasma oxalate in ESRF was performed in 76 and 57%, respectively. Determination of enzyme activity in liver biopsy (55% overall) and mutation analysis have increasingly been performed since 2000 (84.2 and 51%). Treatment included high fluid intake, pyridoxine, citrate and magnesium preparations. Pyridoxine response was reported in 21% of patients. No genotype/phenotype correlation was seen. Most patients (39) do not require renal replacement therapy, 5 patients receive chronic hemodialysis. Preemptive liver (n = 5) and combined liver-kidney transplantation (n = 9) were the preferred transplantation procedures. Conclusion: Despite increasing knowledge and awareness, diagnosis of PH is still too often delayed and diagnosis only made in ESRF. Most German patients, however, do currently not require renal replacement therapy. Genotype/phenotype correlations were not found. Combined liver kidney transplantation is the preferred procedure, but has its specific risks. Additional treatment options are clearly needed.

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Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure

Cited by 92 publications

References 8 publications

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

A 20-Year Experience of Combined Liver/Kidney Transplantation for Primary Hyperoxaluria (PH1): The European PH1 Transplant Registry Experience 1984–2004

Primary Hyperoxaluria – The German Experience

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