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- W2955577054 abstract "Primary distal renal tubular acidosis (dRTA) is a hereditary renal tubular disorder caused by impaired secretion of proton by the renal collecting ducts. Previous reports described that 70-80% of patients harbor causative mutations in one of the three genes involved in renal acid-base handling, namely the ATP6V1B1, the ATP6V0A4, and the SLC4A1 genes. Clinical and genetic studies on dRTA are lacking in Japanese population. We performed next generation sequencing or Sanger sequencing in 26 patients from 21 families recruited by a nation-wide survey. Genetic mutations were identified in 11 (52%) families: 2 (9.5%) families had causative mutations in the ATP6V1B1 gene, 5 (24%) families had mutations in the ATP6V0A4 gene, and 4 (19%) families had mutations in the SLC4A1 gene. Large deletions were identified in 3 families with ATP6V0A4 mutations, which have not been described in other countries. All patients with mutations in the ATP6V1B1 and ATP6V0A4 genes developed dRTA in infancy. In contrast, the median age at onset was 2.5 (interquartile range (IQR), 1.3-4.4) years in patients with SLC4A1 mutations. Failure to thrive was noted in 18 (69%) patients at first presentation. Sensorineural hearing loss (SNHL) was noted in 2 patients with ATP6V1B1 mutations, 1 patient with ATP6V0A4 mutations, and no patients with SLC4A1 mutations. All patients received alkali therapy, which significantly improved height SD score from -1.35 SD at onset to -0.65 SD at last follow-ups (p=0.016). The median age at last follow-ups was 13 (IQR, 4.7-39) years, and 9 (35%) patients developed chronic kidney disease (CKD) stage 2-5. The proportion of gene mutations in our cohort was lower than that in the previous reports, which might be explained by a small sample size, difference in ethnicity, and large deletions identified in the ATP6V0A4 gene which can be difficult to detect. The ATP6V1B1 and ATP6V0A4 genes are the candidates for patients with SNHL, while the SLC4A1 gene would be the first candidate for patients with onset at or older than one year old. Careful monitoring of renal function is mandatory because CKD was frequently noted." @default.
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- W2955577054 date "2019-07-01" @default.
- W2955577054 modified "2023-09-23" @default.
- W2955577054 title "SUN-329 Clinical manifestations and genetic analysis of primary distal renal tubular acidosis" @default.
- W2955577054 doi "https://doi.org/10.1016/j.ekir.2019.05.738" @default.
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