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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 been documented, with some genotype-phenotype differences reported. Regardless of the genetic basis, prompt diagnosis and treatment are decisive for the long-term outcome. If the condition advances to chronic kidney disease stage 4 or 5, a combined liver-kidney transplant should be considered.

the permanente journal/permanente journal

Importance of Assessing Compliance with Conservative Treatment of Primary Hyperoxaluria Type 1: A Case Report of a Patient with I244T/c.969-3C&gt;G Mutation