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Article

Genetic assessment in primary hyperoxaluria: why it matters.

Pediatric nephrology (Berlin, Germany) - 1 Mar 2023

Mandrile Giorgia, Beck Bodo, Acquaviva Cecile, Rumsby Gill, Deesker Lisa, Garrelfs Sander, Gupta Asheeta, Bacchetta Justine, Groothoff Jaap

Abstract excerpt

Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis than those with other PH types, despite the same extent of oxalate excretion. The relation between genotype and clinical phenotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35695965
DOI: 10.1007/s00467-022-05613-2
PMCID: PMC9842587

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