ArticlePediatric nephrology (Berlin, Germany)2018
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 41 citations in OpenAlex.
- Article
- Distal renal tubular acidosis triggered by clozapine in a patient with a heterozygous ATP6V0A4 c.1029 + 5G > A variant: a case report and literature review.BMC nephrology · 2025Review
- 6-year treatment follow-up with an extended-release alkaline formulation (SibnayalOrphanet journal of rare diseases · 2025Article
- Etiology and outcomes of primary renal tubular acidosis.Pediatric nephrology (Berlin, Germany) · 2025Article
- Research progress on renal calculus associate with inborn error of metabolism.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
- Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.Molecular genetics and genomics : MGG · 2022Article
- Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.Pediatric nephrology (Berlin, Germany) · 2021Article
- Kidney function in patients with primary distal renal tubular acidosis.Pediatric nephrology (Berlin, Germany) · 2021Article
- Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments.Pediatric nephrology (Berlin, Germany) · 2021Article
- Audiological and otologic manifestations of glutaric aciduria type I.Orphanet journal of rare diseases · 2020Article
- Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.Pediatric nephrology (Berlin, Germany) · 2020Article
- Genetics of kidney stone disease.Nature reviews. Urology · 2020Review
- Educational review: role of the pediatric nephrologists in the work-up and management of kidney stones.Pediatric nephrology (Berlin, Germany) · 2020Review
- Combination of furosemide and fludrocortisone as a loading test for diagnosis of distal renal tubular acidosis in a pediatric case.CEN case reports · 2020Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundTo evaluate whether there are differences in the phenotype of primary distal renal tubular acidosis (dRTA) patients according to the causal defective gene.
methodsTwenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene. Demographic features, growth impairment, biochemical variables and presence of deafness, nephrocalcinosis, and urolithiasis at diagnosis were compared among the three groups.
resultsPatients with SLC4A1 mutations presented later than those with ATP6V1B1 or ATP6V0A4 defects (120 vs. 7 and 3 months, respectively). Hearing loss at diagnosis was present in the majority of patients with ATP6V1B1 mutations, in two patients with ATP6V0A4 mutations, and in none of cases harboring SLC4A1 mutations. Serum potassium concentration (X ± SD) was higher in SLC4A1 group (3.66 ± 0.44 mEq/L) than in ATP6V0A4 group (2.96 ± 0.63 mEq/L) (p = 0.046). There were no differences in the other clinical or biochemical variables analyzed in the three groups.
conclusionsThis study indicates that non-oriental patients with dRTA caused by mutations in the SLC4A1 gene present later and have normokalemia or milder hypokalemia. Hypoacusia at diagnosis is characteristically associated with ATP6V1B1 gene mutations although it may also be present in infants with ATP6V0A4 defects. Other phenotypical manifestations do not allow predicting the involved gene.
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