Clinical implications of mutation analysis in primary hyperoxaluria type 1
van Woerden CS, Groothoff JW, Wijburg FA, Annink C, Wanders RJ, Waterham HR
Published in Kidney Int, Vol. 66 (2), pp. 746-52
Methodology
AGXT mutation analysis with biochemical and clinical outcome review in 33 of 57 patients from the Dutch PH1 cohort identified over 30 years.
Key Findings
Ten mutations were found; Gly170Arg, Phe152Ile and 33insC had allele frequencies of 43%, 19% and 15%. Homozygous Gly170Arg and Phe152Ile were associated with pyridoxine responsiveness and preserved kidney function over time when treatment started on time. All patients homozygous for 33insC had end-stage kidney disease before age 1.
Conclusions
Early detection of Gly170Arg and Phe152Ile matters because of their link with pyridoxine responsiveness and outcome.
Limitations
Observational national cohort, genotyped subset only, no control for treatment timing; associations, not trial results.
Supplements Studied
Homozygous Gly170Arg and Phe152Ile mutations were associated with pyridoxine responsiveness
Related Health Concerns
Study Details
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