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Primary Hyperoxaluria

Study finds alarming mortality rates among pediatric PH1 patients in Turkey

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A recent study on pediatric patients in Turkey, highlighted the severity of the primary hyperoxaluria type 1 (PH1), particularly in infants and children, with a significant proportion experiencing advanced kidney disease and mortality. The study underscores the importance of early detection through family screening and the urgent need for improved therapeutic strategies to mitigate the systemic complications and devastating outcomes associated with PH1.

The study, which evaluated 48 patients with confirmed PH1 mutations, identified distinct patient groups based on presentation: those presenting in infancy with nephrocalcinosis/nephrolithiasis (Group 1), childhood-onset cases with recurrent nephrolithiasis (Group 2), and asymptomatic children identified through family screening (Group 3).

Notably, infants with PH1 exhibited a significantly more advanced stage of chronic kidney disease (CKD) or kidney failure requiring dialysis compared to other groups. Mortality rates were markedly higher in this group, with 23.1% succumbing to the disease. Death was often associated with significant comorbidities, particularly cardiovascular complications.

In contrast, patients in Group 3, who were identified through family screening, demonstrated more favorable outcomes, with no cases of kidney failure or mortality reported during the study period.

Reference
Bakkaloğlu SA, Büyükkaragöz B, Pınarbaşı AS, et al. Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study. Nephrology (Carlton). 2024;doi: 10.1111/nep.14273. Epub ahead of print. PMID: 38290500.

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