Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

Woerden, Christiaan S. van; Groothoff, Jaap W.; Wanders, Ronald J. A.; Davin, Jean–Claude; Wijburg, Frits A.

doi:10.1093/ndt/18.2.273

Cited by 155 publications

(137 citation statements)

References 20 publications

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“…The calculated prevalence of PH is with 0.7 per 1 million of the population lower in Germany than it has been previously reported for other European countries, as well as for the USA [12,15,16,17]. However, our survey may be biased by underreporting since completeness of patients is difficult to achieve.…”

Section: Discussionmentioning

confidence: 56%

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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Section: Discussionmentioning

confidence: 56%

Primary Hyperoxaluria – The German Experience

et al. 2005

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“…Patients with PH1 may benefit from conservative treatment measures, including aggressive hydration, calcium oxalate crystallization inhibitors, and pyridoxine (4,5), but usually progress to ESRD over time at a median age of 24-35 years (6)(7)(8). Children who are symptomatic during infancy have a more severe course and most of them reach ESRD before the age of 3 years (9).…”

Section: Introductionmentioning

confidence: 99%

Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy

Harambat

Stralen

Espinosa

et al. 2012

Clinical Journal of the American Society of Nephrology

134

105

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SummaryBackground and objectives Primary hyperoxaluria (PH) as a cause of ESRD in children is believed to have poor outcomes. Data on management and outcomes of these children remain scarce.Design, setting, participants, & measurements This study included patients aged ,19 years who started renal replacement therapy (RRT) between 1979 and 2009 from 31 countries providing data to a large European registry.Results Of 9247 incident patients receiving RRT, 100 patients had PH. PH children were significantly younger than non-PH children at the start of RRT. The median age at RRT of PH children decreased from 9.8 years in 1979-1989 to 1.5 years in 2000-2009. Survival was 86%, 79%, and 76% among PH patients at 1, 3, and 5 years after the start of RRT, compared with 97%, 94%, and 92% in non-PH patients, resulting in a three-fold increased risk of death over non-PH patients. PH and non-PH patient survival improved over time. Sixty-eight PH children received a first kidney (n=13) or liver-kidney transplantation (n=55). Although the comparison was hampered by the lower number of kidney transplantations primarily derived from the earlier era of RRT, kidney graft survival in PH patients was 82%, 79%, and 76% at 1, 3, and 5 years for liver-kidney transplantation and 46%, 28%, and 14% at 1, 3, and 5 years for kidney transplantation alone, compared with 95%, 90%, and 85% in non-PH patients. ConclusionsThe outcomes of PH children with ESRD are still poorer than in non-PH children but have substantially improved over time.

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“…Approximately 50% patients presenting in childhood will have end-stage renal failure by the age of 15 years [Latta and Brodehl, 1990], a situation which leads to systemic oxalosis with oxalate precipitation in the eye, heart, and bones, with significant morbidity and mortality. The incidence of PH1 is in the range of 1 in 120,000 live births [Cochat et al, 1995] with prevalence ranging from 1.05 Â 10 6 to 2.9 Â 10 6 in France, Switzerland, and the Netherlands [Cochat et al, 1995;Kopp and Leumann, 1995;Van Woerden et al, 2003], respectively. Excessive oxalate excretion is an indicator of this disease, although the test is not specific for PH1 and may actually be misleadingly reduced in renal failure.…”

Section: Introductionmentioning

confidence: 99%

Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene

Acquaviva²,

et al. 2009

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Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine: glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene. The disease is manifested by excessive endogenous oxalate production, which leads to impaired renal function and associated morbidity. At least 146 mutations have now been described, 50 of which are newly reported here. The mutations, which occur along the length of the AGXT gene, are predominantly singlenucleotide substitutions (75%), 73 are missense, 19 nonsense, and 18 splice mutations; but 36 major and minor deletions and insertions are also included. There is little association of mutation with ethnicity, the most obvious exception being the p.Ile244Thr mutation, which appears to have North African/Spanish origins. A common, polymorphic variant encoding leucine at codon 11, the so-called minor allele, has significantly lower catalytic activity in vitro, and has a higher frequency in PH1 compared to the rest of the population. This polymorphism influences enzyme targeting in the presence of the most common Gly170Arg mutation and potentiates the effect of several other pathological sequence variants. This review discusses the spectrum of AGXT mutations and polymorphisms, their clinical significance, and their diagnostic relevance.

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Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

Cited by 155 publications

References 20 publications

Primary Hyperoxaluria – The German Experience

Primary Hyperoxaluria – The German Experience

Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy

Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene

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