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Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
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The clinical spectrum of dRTA varies depending on age and the type of genetic mutation. Significant epidemiological gaps remain regarding the distribution of gene variants across populations, despite advances in understanding the genetic and molecular basis of dRTA. Limited longitudinal data hinder knowledge of disease progression, genotype-phenotype correlations, and long-term treatment outcomes
This study was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA, 2020) guidelines and was prospectively registered on the International Prospective Register of Systematic Reviews (PROSPERO ID: CRD42024516613). We searched databases from Medline, EMBASE, and Google Scholar up to May 2025 to identify relevant literature.
Following screening of 3288 records from 3 databases, a total of 37 studies (n=3943) were included in the meta-analysis for evaluating the prevalence and spectrum of ATP6V1B1, ATP6V0A4, SLC4A1, and WDR72 mutations in distal renal tubular acidosis (dRTA). These studies exhibited variability in sample size, ethnic composition, and methodological approaches, contributing to substantial heterogeneity. Overall, the pooled proportion estimates revealed that ATP6V0A4 mutations were slightly more frequent, at 29% (95% CI: 23%-36%); ATP6V1B1 mutations accounted for 28% (95% CI: 23%-33%); SLC4A1 mutations were observed in 25% (95% CI: 18%-32%); and WDR72 mutation in 8% (95% CI: 4%-15%). The prevalence of mutations was different across ethnicity, and the most common was SLC4A1 in the Asian population. The pooled proportion of progression to CKD in dRTA was 21% (95% CI: 16%-28%) (n=8), and its subgroup analysis indicated prevalences of CKD in SLC4A1, ATP6V0A4, ATP6V1B1,and WDR72 of 27%, 16%,18% and 23%, respectively (Table 1).
Gene
Ethnicity
Prevalence
SLC4A1
Europe
19%(10%-33%) I2=77.6%
Asia
34%(29%-39%)I2=21.5%
South America
25%(18%-32%) I2=75.3%
ATP6V0A4
32%(22%-44%) I2=84.9%
29%(21%-39%) I2=57.3%
North Africa
28%(15%-47%) I2=78.9%
North America
14%(1%-72%) I2=90.6%
29%(23%-36%) I2=74.8%
ATP6V1B1
24%(19%-31%) I2=60.5%
24%(18%-31%) I2=26.4%
45%(17%-77%) I2=89.8%
28%(14%-49%) I2=0%
28%(23%-34%) I2=66.2%
WDR72
7%(4%-13%) I2=0%
19%(4%- 46%)
Europe & Asia
5%(0-24%)
CKD progression
27%(15%-43%) I2=11.46%
16%(7%-31%) I2=28.56%
ATPV1B1
18%(9%-33%) I2=14.74%
23%(0-100%) I2=0%
This systematic review and meta-analysis emphasise the epidemiological spectrum of ATP6V1B1, ATP6V0A4, SLC4A1, and WDR72 mutations in dRTA and SLC4A1 being the most common in Asia. These findings underscore the critical need for population-specific genetic screening strategies
