Background/Aims: Primary hyperoxaluria (PH) is an inherited disorder that causes calcium urolithiasis and renal failure. Due to its rarity, experience at most centers with this disease is limited. Methods: A secure, web-based, institutional review board/ethics committee and American Health Insurance Portability and Accountability Act (HIPAA)-compliant registry was developed to facilitate international contributions to a data base. To date 95 PH patients have been entered. Results: PH type was confirmed in 84/95 (PH1 79%, PH2 9%). Mean age ± SD at symptom onset was 9.5 ± 10.2 (median 5.5) years whereas age at diagnosis was 15.0 ± 15.2 (median 10.0) years. Urolithiasis was present at diagnosis in 90% (mean 7, median 1, stones prior to diagnosis) and nephrocalcinosis in 48%. Surprisingly 15% of the patients were asymptomatic at the time of diagnosis. Nineteen of the 95 patients were first recognized to have PH after they had reached end-stage renal disease, with the diagnosis made only after kidney transplantation in 7 patients. Patients were followed for 12.1 ± 10.6 (median 9.4) years. Thirty-four of 95 progressed to end-stage renal failure, before (19 patients) or after (15 patients) diagnosis. In the PH1 cohort actuarial renal survival was 64% at 30 years of age, 47% at 40 years, and 29% at 50 years. Conclusion: We have developed a PH registry, and demonstrated the feasibility of this secure, web-based approach for data entry. By facilitating accumulation of an increasing cohort of patients, this registry should allow more complete characterization of clinical expression of PH, an appreciation of geographic variability, and identification of treatment outcomes.

Keywords:
Calcium oxalate, Nephrolithiasis, Nephrocalcinosis, Oxalate, Oxalosis
1.
Van Acker KJ, Eyskens FJ, Espeel MF, Wanders RJ, Dekker C, Kerckaert IO, Roels F: Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria. Kidney Int 1996;50:1747–1752.
2.
Monico CG, Milliner DS, Wilson DM, Rumsby G: Atypical primary hyperoxaluria: PH type III? Nephrol Dial Transplant 1999;14:2784–2789.
3.
Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N: Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique. Nephrol Dial Transplant 1995;10:3–7.
4.
Danpure CJ, Rumsby G: Enzymology and molecular genetics of primary hyperoxaluria type 1. Consequences for clinical management; in Khan SR (ed): Calcium Oxalate in Biological Systems. Boca Raton, CRC Press, 1995, pp 189–205.
5.
Gibbs DA, Watts RWE: The variation of urinary oxalate excretion with age. J Lab Clin Med 1969;736:901–908.
6.
Barratt TM, Kasidas GP, Murdoch I, Rose GA: Urinary oxalate and glycolate excretion and plasma oxalate concentration. Arch Dis Child 1991;66:501–503.
7.
von Schnakenburg C, Byrd DJ, Latta K, Reusz GS, Graf D, Brodehl J: Determination of oxalate excretion in spot urines of healthy children by ion chromatography. Eur J Clin Chem Clin Biochem 1994;32:27–29.
8.
Milliner DS, Eickholt JT, Bergstralh E, Wilson DM, Smith LH: Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. N Engl J Med 1994;331:1553–1558.
9.
Cochat P, Gaulier JM, Koch Nogueira PC, Feber J, Jamieson NV, Roland M-O, Divry P, Bozon D, DuBourg L: Combined kidney-liver transplantation in primary hyperoxaluria type 1. Eur J Pediatr 1999;158(suppl 2):S75–S80.
10.
Saborio P, Scheinman JI: Transplantation for primary hyperoxaluria in the United States. Kidney Int 1999;56:1094–1100.
11.
Hoppe B, Langman CB: A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria. Pediatr Nephrol 2003;18:986–991.
12.
Wrong OM, Norden AGW, Feest TG: Dent’s disease; a familial proximal renal tubualar syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and marked male predominance. QJM 1994;87:473–493.
© 2005 S. Karger AG, Basel
2005
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.