Recent Advances in the Identification and Management of Inherited Hyperoxalurias

Overview

Journal Urolithiasis

Publisher Springer

Specialty Urology

Date 2018 Dec 12

PMID 30535828

Citations 23

Authors

David J Sas

Peter C Harris

Dawn S Milliner

Affiliations

Soon will be listed here.

Abstract

Primary hyperoxaluria (PH) is caused by genetic mutations resulting in oxalate overproduction leading to nephrolithiasis, nephrocalcinosis, extrarenal manifestations, chronic kidney disease, and end-stage renal disease. Advances in genetic testing techniques have improved our ability to efficiently and effectively obtain a definitive diagnosis of PH as well as easily screen at-risk family members. Similarly, advances in technologies related to intervening at the genetic and molecular level promise to change the way we treat patients with PH. In this review, we provide an update regarding the identification of underlying molecular and biochemical causes of inherited hyperoxalurias, clinical manifestations, and treatment strategies.

Citing Articles

Advances in Diagnosis and Treatment of Inherited Kidney Diseases in Children.

Wang G, Liao M, Tan D, Chen X, Chao R, Zhu Y Kidney Dis (Basel). 2024; 10(6):558-572.

PMID: 39664340 PMC: 11631113. DOI: 10.1159/000541564.

Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory.

Cellini B, Baum M, Frishberg Y, Groothoff J, Harris P, Hulton S Kidney Int Rep. 2024; 9(11):3083-3096.

PMID: 39534212 PMC: 11551133. DOI: 10.1016/j.ekir.2024.08.031.

Diagnosis and management of primary hyperoxalurias: best practices.

Michael M, Harvey E, Milliner D, Frishberg Y, Sas D, Calle J Pediatr Nephrol. 2024; 39(11):3143-3155.

PMID: 38753085 DOI: 10.1007/s00467-024-06328-2.

Nedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3.

Groothoff J, Sellier-Leclerc A, Deesker L, Bacchetta J, Schalk G, Tonshoff B Kidney Int Rep. 2024; 9(5):1387-1396.

PMID: 38707801 PMC: 11068990. DOI: 10.1016/j.ekir.2024.02.1439.

A molecular journey on the pathogenesis of primary hyperoxaluria.

Cellini B Curr Opin Nephrol Hypertens. 2024; 33(4):398-404.

PMID: 38602143 PMC: 11139248. DOI: 10.1097/MNH.0000000000000987.

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