Article
Importance of Assessing Compliance with Conservative Treatment of Primary Hyperoxaluria Type 1: A Case Report of a Patient with I244T/c.969-3C>G Mutation.
The Permanente journal - 1 Jan 2020
Medina Paloma Gutiérrez, Román Laura Espinosa
Abstract excerpt
INTRODUCTION: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder that progresses to end-stage renal disease. Patients experience excessive urinary oxalate excretion, which causes nephrocalcinosis and recurrent urolithiasis. When the glomerular filtration rate declines, calcium oxalate accumulates in extrarenal tissues, causing end-organ damage. More than 190 responsible mutations have...
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