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Nephrocalcinosis in a patient with primary hyperoxaluria type 2
M J Kemper1, D E Müller-Wiefel
1Division of Pediatric Nephrology, University Children's Hospital, Hamburg, Germany.
Insights
Primary hyperoxaluria type 2 (PH 2) rarely causes nephrocalcinosis, a kidney calcification. This case highlights a PH 2 infant with severe nephrocalcinosis but stable kidney function, challenging typical outcomes.
Area of Science:
- Nephrology
- Medical Genetics
- Biochemistry
Background:
- Primary hyperoxaluria type 2 (PH 2) is a rare metabolic disorder.
- It is typically associated with a better renal prognosis compared to PH 1.
- Nephrocalcinosis is an uncommon finding in PH 2.
Observation:
- An 8-month-old infant presented with recurrent urinary tract infections.
- Imaging revealed severe corticomedullary nephrocalcinosis without kidney stones.
- Biochemical analysis confirmed elevated urinary oxalate and D-glycerate, consistent with PH 2.
Findings:
- The patient exhibited significant nephrocalcinosis progression over two years.
- Despite radiological progression, renal function remained stable during the observation period.
- Absence of urinary glycolate and glyoxylate supported the PH 2 diagnosis.
Implications:
- This case suggests that severe nephrocalcinosis can occur in PH 2.
- The long-term impact of nephrocalcinosis on renal prognosis in PH 2 requires further investigation.
- Understanding this association may refine diagnostic and management strategies for PH 2.
Abstract:
Although nephrocalcinosis is a classical finding in primary hyperoxaluria type 1 (PH 1) associated with a poor renal survival it is exceptional in patients with PH type 2 (PH 2), characterized by a more favorable outcome. We describe an 8-month-old girl who suffered from recurrent urinary tract infections. Imaging studies revealed a profound corticomedullary nephrocalcinosis with no evidence of calculi. Urinary oxalate and D-glycerate excretion were massively elevated, while urinary glycolate or glyoxylate could not be detected, confirming the diagnosis of PH 2. Although the nephrocalcinosis progressed radiologically, renal function remained stable for over 2 years. Only further follow-up will show whether the associated nephrocalcinosis worsens the prognosis of our patient and of PH 2 in general.