2015
DOI: 10.1681/asn.2015040367
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The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers

Abstract: Mutations in the vacuolar-type H + -ATPase B1 subunit gene ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA). We previously identified a single-nucleotide polymorphism (SNP) in the human B1 subunit (c.481G.A; p.E161K) that causes greatly diminished pump function in vitro. To investigate the effect of this SNP on urinary acidification, we conducted a genotype-phenotype analysis of recurrent stone formers in the Dallas and Bern kidney stone registries. Of 555 patients examined, 32 (5.8%) we… Show more

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Cited by 51 publications
(50 citation statements)
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“…2B). Nadir urinary pH was achieved at 5 hrs, which is comparable to previous studies [5,44]. Venous blood pH and bicarbonate, measured at baseline and at 2 and 4 hrs, respectively, revealed the presence of a significant metabolic acidosis at 2 hrs with slight recovery after 4 hrs ( Fig.…”
Section: Downregulation Of Pendrin In Urinary Exosomes After Nh4cl Losupporting
confidence: 89%
See 1 more Smart Citation
“…2B). Nadir urinary pH was achieved at 5 hrs, which is comparable to previous studies [5,44]. Venous blood pH and bicarbonate, measured at baseline and at 2 and 4 hrs, respectively, revealed the presence of a significant metabolic acidosis at 2 hrs with slight recovery after 4 hrs ( Fig.…”
Section: Downregulation Of Pendrin In Urinary Exosomes After Nh4cl Losupporting
confidence: 89%
“…As a matter of fact, Rab11a is responsible for apical recycling of endosomes [6,27]. Indeed Rab11a and Rab11b regulated the trafficking and recycling of the epithelial sodium channel (ENaC) within the CCD [5]. Urinary exosomes are released into the urine by fusion of the outer membrane of the multivesicular bodies (MVBs) with the apical plasma membrane [12,26].…”
Section: Discussionmentioning
confidence: 99%
“…In both species, the absence of functional B1 or a4 H + -ATPase subunits can be associated with the development of nephrocalcinosis or -lithiasis [6,9,12,14,16,17,21]. Moreover, recent studies described that monoallelic mutations in these 2 genes can also lead to urinary acidification defects with elevated risk for nephrocalcinosis or-lithiasis [10,11,22]. Along this line, a recent study investigated the ability of Atp6v0a4 heterozygous mice regarding to handle a chronic acid load.…”
Section: Discussionmentioning
confidence: 99%
“…2) which however did not reach statistical significance when compared to Atp6v1b1 +/+ . Patients with biallelic ATP6V1B1 mutations frequently develop nephrocalcinosis [9,11,12] and nephrocalcinosis has been also reported in some patients with only monoallelic ATP6V1B1 mutations [10,11]. We thus tested whether urinary calcium, phosphate and citrate excretion were different between genotypes and found no obvious difference at any of the time points tested (Tables 1 -3).…”
Section: Atp6v1b1 Heterozygous Mice Exhibit No Overt Drta But Developmentioning
confidence: 93%
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