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A case of late-onset primary hyperoxaluria type 1
Sabine Blaschke1, Clemens Grupp, Jens Haase
1Department of Nephrology and Rheumatology, Georg-August University, Goettingen, Germany. sblasch@gwdg.de
Insights
Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder. Early combined liver and kidney transplant is crucial for PH1 patients to prevent severe oxalosis and kidney failure.
Area of Science:
- Nephrology
- Metabolic Disorders
- Genetics
Background:
- Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disease causing kidney stones and damage.
- It leads to calcium oxalate buildup, affecting organs and causing kidney failure, typically in younger individuals.
Observation:
- A 56-year-old woman with late-onset PH1 experienced rapid kidney failure and systemic oxalosis.
- Despite dialysis, she had severe skin and eye involvement due to oxalate deposits.
Findings:
- This case highlights challenges in managing PH1-induced end-stage renal disease.
- Late-onset PH1 can present aggressively with widespread oxalosis.
Implications:
- Combined liver and kidney transplantation is vital for PH1 patients.
- Prompt transplantation can reverse the metabolic defect and restore kidney function, improving outcomes.
Abstract:
Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder characterized by recurrent urolithiasis and nephrocalcinosis frequently leading to progressive renal insufficiency during the second decade of life. Systemic organ involvement as a result of the accumulation of calcium oxalate crystal deposits in vessel walls often is observed. We report a case of a 56-year-old woman with late-onset of PH1 who developed rapidly progressive renal failure and severe systemic oxalosis with skin and eye involvement despite intensified hemodialytic therapy during the waiting period for combined liver and kidney transplantation. This case illustrates the difficulties in treatment of PH1-induced end-stage renal disease. Combined liver and kidney transplantation should be offered to these patients as soon as possible to reverse the underlying metabolic defect and to restore renal function.