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- Title
Recent advances in the identification and management of inherited hyperoxalurias.
- Authors
Sas, David J.; Harris, Peter C.; Milliner, Dawn S.
- 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.
- Subjects
KIDNEY diseases; CHRONIC kidney failure; GENETIC testing; KIDNEY calcification; OVERPRODUCTION; CHRONIC diseases
- Publication
Urolithiasis, 2019, Vol 47, Issue 1, p79
- ISSN
2194-7228
- Publication type
Article
- DOI
10.1007/s00240-018-1093-3