Availability of assays for definitive diagnosis of primary hyperoxaluria types 1 and 2.

نویسندگان

  • G Rumsby
  • C Samuell
چکیده

References 1. Shaw LM, Bowers L, Demers L, Freeman D, Moyer T, Sanghvi A, et al. Critical issues in cyclosporine monitoring: report of the Task Force on Cyclosporine Monitoring. Clin Chem 1987;33:1269–88. 2. Oellerich M, Armstrong VW, Kahan B, Shaw L, Holt DW, Yatscoff R, et al. Lake Louise Consensus Conference on cyclosporine monitoring in organ transplantation: report of the consensus panel. Ther Drug Monit 1995;17:642–54. 3. Armijo JA, Navarro FA, Angeles de Cos M. Is the monoclonal fluorescence polarization immunoassay for cyclosporine specific? Comparison with specific radioimmunoassay. Ther Drug Monit 1992;14:333–8. 4. Beresini MH, Davalian D, Alexander S, TotonQuinn R, Barnett B, Cerelli MJ, et al. Evaluation of EMIT cyclosporine assay for use with whole blood. Clin Chem 1993;39:2235–41. 5. Dusci LJ, Hackett LP, Chiswell GM, Ilet KF. Comparison of cyclosporine measurement in whole blood by HPLC, MFPI and EMIT. Ther Drug Monit 1991;14:327–32. 6. LeGatt DF, Chooi M, Simpson AI, Yatscoff RW. EMIT cyclosporine assay: development of an application protocol for Technicon AXON System. Clin Biochem 1994;27:387–94. 7. Dias VC, LeGatt DF, Yatscoff RW. The EMIT cyclosporine assay: development of application protocols for the Boehringer Mannheim Hitachi 911 and 917 analyzers. Clin Biochem 1997; 30:155–62. 8. Seydoux C, Goy JJ. A specific monoclonal antibody for cyclosporine measurement: the clinician’s point of view. Therapie 1997;52:321–5. Renata Fatio* Gabor Sütsch Patrick Pei Ferenc Follath Wolfgang Kiowski Depts. of Intern. Med. and 1 Clin. Chem. University Hosp. Zürich CH 8091, Zürich Switzerland

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Hyperoxalurias and their treatment

Hyperoxaluria is characterized by an increased in excretion of oxalate by kidney.There are two distinct clinical expressions of hyperoxaluria, named primary and secondary hyperoxaluria. Primary hyperoxaluria is a genetic disorder due to defective enzyme activity .In contrast , secondary hyperoxaluria , is caused by increased dietary ingestion of oxalate or oxalate precursors. There are three ma...

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Primary hyperoxaluria: a rare but important cause of nephrolithiasis.

We report on a middle-aged man with end-stage renal failure apparently secondary to recurrent renal stones. He developed systemic oxalosis soon after commencing dialysis. The diagnosis of primary hyperoxaluria type 1 was supported by the finding of high dialysate glycolate excretion. The patient subsequently received an isolated cadaveric renal transplant, but the outcome was a rapid recurrence...

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Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.

BACKGROUND Definitive diagnosis of primary hyperoxaluria type 1 (PH1) requires analysis of alanine:glyoxylate aminotransferase (AGT) activity in the liver. We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy. Havi...

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Early dysfunction of transplanted kidney revealed the cause of recurrent nephrolithiasis: a case report of primary hyperoxaluria

Primary hyperoxaluria (PH) disorder causes end-stage renal disease (ESRD). Missed diagnosis or relapse in transplanted kidney is common. We present a 36-year-old patient with a history of recurrent renal calculus which progressed to end-stage renal disease. He underwent kidney-transplant surgery. Renal function tests had worsening progressively at first-week post-transplant. Transplanted kidney...

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The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

BACKGROUND Mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene have been recently identified in patients with atypical primary hyperoxaluria (PH). However, it was not clearly established whether these mutations caused disease via loss of function or activation of the gene product. METHODS Whole-gene sequencing of HOGA1 was conducted in 28 unrelated patients with a high clinical su...

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عنوان ژورنال:
  • Clinical chemistry

دوره 44 3  شماره 

صفحات  -

تاریخ انتشار 1998