Recent advances in the identification and management of inherited hyperoxalurias

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...

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Veröffentlicht in:	Urolithiasis 2019-02, Vol.47 (1), p.79-89
Hauptverfasser:	Sas, David J., Harris, Peter C., Milliner, Dawn S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alcohol Oxidoreductases - genetics Enzymes Fluid Therapy Genes Genetic Testing - methods Humans Hyperoxaluria, Primary - complications Hyperoxaluria, Primary - diagnosis Hyperoxaluria, Primary - genetics Hyperoxaluria, Primary - therapy Identification Invited Review Kidney Calculi - etiology Kidney Calculi - prevention & control Kidney Calculi - surgery Kidney diseases Kidney stones Kidney Transplantation Lithotripsy Liver Liver Transplantation Medical Biochemistry Medicine Medicine & Public Health Metabolism Mutation Nephrocalcinosis - etiology Nephrocalcinosis - prevention & control Nephrology Oxalates - metabolism Oxo-Acid-Lyases - genetics Patients Pyridoxine - therapeutic use Renal Replacement Therapy - methods Transaminases - genetics Treatment Outcome Urine Urology
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