Primary Hyperoxaluria with Pleural Effusion and Thickening: A Case Report and Literature Review

Introduction: Primary Hyperoxaluria (PH) is a rare autosomal recessive disorder resulting in excessive oxalate production, which causes complications such as kidney stones, nephrocalcinosis, and early renal failure. The most severe form, PH۱, stems from a mutation in the AGXT gene.Case Presentation: We describe the case of a ۲۴-year-old male with PH۱ who has progressed to end-stage renal disease (ESRD). His early symptoms, including frequent fever, vomiting, and abdominal pain, were initially overlooked.Conclusion: The patient presented with knee pain, swelling, and pleural effusion. His history of untreated symptoms highlights the challenges in early diagnosis and the importance of recognizing PH۱’s impact across multiple organ systems. This case emphasizes the critical need for early detection and a comprehensive management plan to address the multi-organ involvement and mitigate severe complications associated with PH۱.

کلیدواژه ها:

Hyperoxaluria ، Pleural Effusion ، ESRD ، Oxalate