Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease - PubMed
12 hours ago
- #biochemical-phenotyping
- #genetic-variants
- #kidney-stone-disease
- Kidney stone disease (KSD) affects ~10% of the population, with genetic factors playing a role.
- The Swiss Kidney Stone Cohort study included 701 kidney stone formers (KSFs) and 200 non-kidney stone formers (NKSFs).
- Deep biochemical phenotyping and whole-exome sequencing identified rare (likely) pathogenic (LP/P) variants in 6.8% of KSFs.
- LP/P variants in SLC34A3 caused hyperphosphaturia, while variants in SLC34A1, SLC9A3R1, or CYP24A1 did not show expected biochemical changes.
- Monoallelic SLC7A9 variants in cystinuria acted as intermediate risk factors, requiring additional factors for KSD occurrence.
- Presence of strong genetic risk factors correlated with higher kidney stone recurrence over 3 years.
- Genetic testing combined with biochemical phenotyping has prognostic value for KSD.