Primary Hyperoxaluria
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Advancing the Understanding of Primary Hyperoxaluria: Insights from Two Compelling Case Reports

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Primary hyperoxaluria (PH) encompasses a group of rare genetic disorders marked by the overproduction of oxalate, leading to severe complications such as end-stage renal disease (ESRD). Among the various types, Primary Hyperoxaluria-1 (PH1) and Primary Hyperoxaluria-2 (PH2) stand out, each presenting distinct genetic underpinnings and clinical manifestations. In this article, we delve into 2 noteworthy case reports that not only shed light on the complexities of PH but also contribute significantly to the evolving landscape of its diagnosis and management.

Primary Hyperoxaluria-1: A Pediatric Presentation
The first case revolves around a 3-month-old male infant exhibiting loose stools; reduced oral intake; decreased activity; edema; and a peeling rash on the cheeks, lips, and genitalia. This clinical presentation prompted a investigation, revealing bilateral hyperechoic kidneys with increased cortical echogenicity on kidney ultrasound and diffusely calcified renal cortices on computed tomography scan. The subsequent renal biopsy confirmed the diagnosis of “oxalate nephropathy,” and genetic testing pinpointed the deficiency of alanine:glyoxylate aminotransferase, defining it as PH1.

The significance of this case lies not only in the rarity of PH1 but also in the urgency it imparts for early diagnosis and intervention. The child underwent conservative management initially, followed by peritoneal dialysis and eventual transition to intermittent hemodialysis. This underscores the critical role of prompt recognition and a multi-disciplinary approach in mitigating the devastating effects of PH1, particularly in pediatric populations.

Primary Hyperoxaluria-2: Navigating a Lifelong Challenge
The second case report centers around a 26-year-old male with PH2, a less common variant characterized by glyoxylate metabolism alterations. The patient’s journey with PH2 began in childhood, marked by recurrent nephrolithiasis that eventually culminated in ESRD. Genetic testing became instrumental in unraveling the underlying cause, revealing a heterozygous missense variant in the GRHPR gene.

This case not only underscores the long-term implications of PH2 but also emphasizes the pivotal role of genetic testing in its diagnosis and management. Early identification of the genetic variant allowed for strategic planning to delay progression to ESRD. However, it also highlights the ongoing challenges in the post-transplantation phase, where diligent preventive measures are imperative to mitigate the risk of hyperoxaluria-related graft damage.

Common Threads and Future Directions
Although PH1 and PH2 differ in their genetic origins, both cases underscore the critical importance of early detection, genetic testing, and a comprehensive treatment approach. The cases highlight the potential for conservative management, dialysis, and transplantation as crucial components in the care continuum for these patients.

Moving forward, the integration of genetic testing into routine clinical practice emerges as a pivotal step in managing primary hyperoxalurias effectively. This not only allows for precise diagnosis but also enables tailored interventions, potentially altering the natural course of the disease. Furthermore, these cases prompt a deeper exploration of preventive strategies post-transplantation, aiming to optimize long-term outcomes and safeguard against the relentless impact of hyperoxaluria.

Kashiv P, Dubey S, Sejpal KN, et al. Young Male With End-Stage Renal Disease Due to Primary Hyperoxaluria Type 2: A Rare Presentation. Cureus. 2023;15(10):e46555. doi: 10.7759/cureus.46555. PMID: 37933374; PMCID: PMC10625654.

Mittal A, Jain H, Singh A, et al. A Rare Sparkle: A Case of Calcified Kidneys in a Young Infant With Renal Failure. Cureus. 2023;15(10):e46827. doi: 10.7759/cureus.46827. PMID: 37954792; PMCID: PMC10636571.