Polskie Archiwum Medycyny Wewnętrznej
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Pol. Arch. Med. Wewn.
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Pol. Arch. Med. Wewn. · Dec 2020
Multicenter StudyStill diagnosed too late and under-recognized? A first comprehensive report on primary hyperoxaluria from Poland.
Primary hyperoxalurias (PHs) are rare disorders leading to overproduction and increased urinary excretion of oxalate. Three monogenic forms (PH1-PH3) were classified. PHs lead to urolithiasis and chronic kidney disease. There are only sparse data on patients with PH from Eastern European countries including Poland. ⋯ The prevalence of PH1 and PH2 in Poland seems to be much lower than in Western countries with PH3 constituting about 30% of all cases. The molecular findings and clinical course are typical, but the underdiagnosis is of concern.