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 (E...

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Published inCurēus (Palo Alto, CA) Vol. 15; no. 10
Main Authors Kashiv, Pranjal, Dubey, Shubham, Sejpal, Kapil N, Malde, Sunny, Gurjar, Prasad, Pasari, Amit, Balwani, Manish
Format Journal Article
LanguageEnglish
Published Palo Alto Cureus Inc 05.10.2023
Cureus
Subjects
Case reports
Disease prevention
Genetic disorders
Genetic testing
Hemodialysis
Kidney diseases
Kidney stones
Kidney transplants
Mutation
Nephrology
Patients
Peritoneal dialysis
Plasma
Urine
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.46555