» Articles » PMID: 25519509

Primary Hyperoxalurias: Diagnosis and Treatment

Overview
Journal Pediatr Nephrol
Specialties Nephrology
Pediatrics
Date 2014 Dec 19
PMID 25519509
Citations 19
Authors
Affiliations
Soon will be listed here.
Abstract

Primary hyperoxalurias (PH) comprise a group of three distinct metabolic diseases caused by derangement of glyoxylate metabolism in the liver. Recent years have seen advances in several aspects of PH research. This paper reviews current knowledge of the genetic and biochemical basis of PH, the specific epidemiology and clinical presentation of each type, and therapeutic approaches in different disease stages. Potential future specific therapies are discussed.

Citing Articles

Bone health in children with primary hyperoxaluria type 1 following liver and kidney transplantation.

Buscher R, Pape L, Buscher A Front Pediatr. 2024; 12:1353880.

PMID: 38455394 PMC: 10917879. DOI: 10.3389/fped.2024.1353880.


.

Boussetta A, Fatnassi R, Jellouli M, Maamouri R, Mrad R, Gargah T Tunis Med. 2024; 101(7):626-630.

PMID: 38445424 PMC: 11217970.


Long-term outcomes after pre-emptive liver transplantation in primary hyperoxaluria type 1.

Shasha-Lavsky H, Avni A, Paz Z, Kalfon L, Dror A, Yakir O Pediatr Nephrol. 2022; 38(6):1811-1820.

PMID: 36449101 DOI: 10.1007/s00467-022-05803-y.


Primary hyperoxaluria: the pediatric nephrologist's point of view.

Ben-Shalom E, Garrelfs S, Groothoff J Clin Kidney J. 2022; 15(Suppl 1):i23-i28.

PMID: 35592624 PMC: 9113416. DOI: 10.1093/ckj/sfab231.


Clinical and economic impact of primary hyperoxaluria: a retrospective claims analysis.

Mucha L, Hoppe B, Silber A, Wang Z, Miyasato G, Skaar J J Manag Care Spec Pharm. 2022; 28(3):316-323.

PMID: 35199581 PMC: 10373026. DOI: 10.18553/jmcp.2022.28.3.316.


References
1.
Williams H, SMITH Jr L . L-glyceric aciduria. A new genetic variant of primary hyperoxaluria. N Engl J Med. 1968; 278(5):233-8. DOI: 10.1056/NEJM196802012780502. View

2.
CHOU L, Donohue W . Oxalosis; possible inborn error of metabolism with nephrolithiasis and nephrocalcinosis due to calcium oxalate as the predominating features. Pediatrics. 1952; 10(6):660-6. View

3.
van der Hoeven S, van Woerden C, Groothoff J . Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. Nephrol Dial Transplant. 2012; 27(10):3855-62. DOI: 10.1093/ndt/gfs320. View

4.
Frishberg Y, Feinstein S, Rinat C, Drukker A . Hypothyroidism in primary hyperoxaluria type 1. J Pediatr. 2000; 136(2):255-7. DOI: 10.1016/s0022-3476(00)70112-0. View

5.
Nolkemper D, Kemper M, Burdelski M, Vaismann I, Rogiers X, Broelsch C . Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. Pediatr Transplant. 2000; 4(3):177-81. DOI: 10.1034/j.1399-3046.2000.00107.x. View