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

Pranjal Kashiv; Shubham Dubey; Kapil N Sejpal; Sunny Malde; Prasad Gurjar; Amit Pasari; Manish Balwani

doi:10.7759/cureus.46555

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

Cureus. 2023 Oct 5;15(10):e46555. doi: 10.7759/cureus.46555. eCollection 2023 Oct.

Authors

Pranjal Kashiv¹, Shubham Dubey¹, Kapil N Sejpal¹, Sunny Malde¹, Prasad Gurjar¹, Amit Pasari¹, Manish Balwani¹

Affiliation

¹ Nephrology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education & Research, Wardha, IND.

Abstract

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.

Keywords: dialysis; end-stage renal disease; genetic testing; nephrolithiasis; primary hyperoxaluria type 2 (ph2).

Publication types

Case Reports