Young Male With End-Stage Renal Disease Due to Primary Hyperoxaluria Type 2: A Rare Presentation

Primary hyperoxaluria type 2 (PH2) is a rare genetic disorder characterized by excessive oxalate production due to glyoxylate metabolism alterations. This case report presents a 26-year-old male with PH2 who experienced recurrent nephrolithiasis since childhood, leading to end-stage renal disease (ESRD). The patient's history prompted genetic testing, which revealed a heterozygous missense variant in the GRHPR gene, confirming PH2. Early genetic diagnosis is crucial for preventing ESRD and planning effective treatments. Patients with PH2 require intensive hemodialysis and may benefit from kidney transplantation. However, even after transplantation, ongoing preventive measures are essential due to the risk of hyperoxaluria-related graft damage. This case highlights the importance of early detection and genetic testing in managing PH2 to delay ESRD and improve patient outcomes.

Automated summary

This case report presents a 26-year-old male with primary hyperoxaluria type 2 (PH2) who experienced recurrent nephrolithiasis since childhood, leading to end-stage renal disease. Genetic testing confirmed the diagnosis of PH2, highlighting the importance of early detection and genetic testing in managing this condition.