Primary hyperoxaluria type 2 without l‐glycericaciduria: is the disease under‐diagnosed?

Rumsby, Gill; Sharma, Abhishek; Cregeen, David; Solomon, L. R.

doi:10.1093/ndt/16.8.1697

Cited by 38 publications

(20 citation statements)

References 10 publications

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“…Additional biochemical analyses, such as urinary glycolate, can be used to support a presumptive diagnosis of PH1 but glycolate is normal in approximately one third of cases and has been shown to be raised in some cases which do not have the disease [18]. Conversely, L-glycericaciduria is still of use for the diagnosis of PH2, but it should be noted that the converse is not true (i.e., lack of glycericaciduria cannot exclude PH2 [19]). The specificity of genetic testing would be expected to equate to the carrier frequency providing the analytical test is reliable.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias

Rumsby¹,

Williams

Coulter‐Mackie

2004

Kidney International

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Section: Discussionmentioning

confidence: 99%

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias

Rumsby¹,

Williams

Coulter‐Mackie

2004

Kidney International

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“…One of us has recently identified a pair of brothers, resident outside the West Midlands region, in whom L-glycerate excretion was not elevated in enzymically proven PH2, so this metabolite is not 100% reliable as a marker for this disease [21].…”

Section: Discussionmentioning

confidence: 99%

Primary hyperoxaluria type 2 in children

et al. 2002

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The primary hyperoxalurias (PH1 and PH2) are rare defects of oxalate overproduction. There are only 24 reported cases of PH2, which is characterized by raised urine oxalate and L-glycerate. We describe 13 previously unreported children with PH2, representing the largest single-centre cohort in the world. DNA samples were tested for a common mutation and four other documented mutations in the gene encoding the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). Two of the five kindred showed homozygosity for two different mutations in the GRHPR gene. The genetic defect was not identified in the other three families. The median age at diagnosis of PH2 was 1.7 years. Five children presented with nephrolithiasis between 0.8 and 9 years. Haematuria was common, but urinary tract infection and nephrocalcinosis were not. All had normal renal function at diagnosis, and only 1 patient had a significant decline in glomerular filtration rate. We conclude that all children with nephrolithiasis secondary to hyperoxaluria should have urinary glycerate measured, as PH2 may be more prevalent than currently estimated. DNA mutational analysis may be useful in supporting the diagnosis.

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“…However, normal urine glycolate does not exclude the diagnosis. Elevated urinary L-glyceric acid excretion is found in nearly all patients with PH type II though occasional patients with normal L-glyceric acid values have been reported [17]. In PH type I the urinary oxalate excretion tends to be higher (2.14 ± 1.29 mmol/1.73 m 2 /d) than in PH type II (1.46 ± 0.49 mmol/1.73 m 2 /d), though the degree of overlap precludes its use for diagnostic differentiation [18].…”

Section: Diagnostic Evaluationmentioning

confidence: 99%

The primary hyperoxalurias

Höppe

Beck

Milliner

2009

Kidney International

340

314

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The primary hyperoxalurias are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are the principal manifestations. End stage renal failure occurs frequently and is followed by systemic oxalate deposition with its devastating effects. Due to lack of familiarity with the primary hyperoxalurias and their heterogeneous clinical expression, the diagnosis is often delayed until there is advanced disease. In recent years, improvements in medical management have been associated with better patient outcomes. Though there are several therapeutic options that can help to prevent early kidney failure, to date the only curative treatment is combined liver-kidney transplantation in those patients with type I primary hyperoxaluria. Promising areas of investigation are being identified. Knowledge of the spectrum of disease expression, early diagnosis, and initiation of treatment before renal failure ensues are essential to realize a benefit for patients.

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Primary hyperoxaluria type 2 without l‐glycericaciduria: is the disease under‐diagnosed?

Cited by 38 publications

References 10 publications

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias

Primary hyperoxaluria type 2 in children

The primary hyperoxalurias

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