Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

Gómez, Juan; Gil‐Peña, Helena; Santos, Fernando; Coto, Eliécer; Arango, Ana María; Hernandez, Olaya; Rodríguez, Julián; Nadal, Inmaculada; Cantos, Virginia; Chocrón, Sara; Vergara, Inés; Madrid, Álvaro; Vázquez, Carlos; González, Luz E.; Blanco, Fiona

doi:10.1038/pr.2015.243

Cited by 22 publications

(18 citation statements)

References 29 publications

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“…However, the clinical courses and the long-term prognosis showed no difference between the two groups. These findings were consistent with those of previously reported studies [10, 13, 15]. …”

Section: Discussionsupporting

confidence: 94%

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Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Park

Cho

Hyun

et al. 2018

Kidney Blood Press Res

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Background/Aims: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. Methods: A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. Results: Pathogenic mutations, including six novel mutations, were detected in 15 (88.2%) patients: dominant SLC4A1 mutations in ten (58.8%) patients, recessive ATP6V0A4 mutations in three (17.6%) patients, and recessive ATP6V1B1 mutations in two (11.8%) patients. Compared to other patients, patients with SLC4A1 mutations showed an older age of onset (3.7 ± 2.6 years) and less severe metabolic acidosis at initial presentation. All patients developed nephrocalcinosis, and sensorineural hearing loss was observed in two patients with ATP6V1B1 mutations. Three (17.6%) patients had decreased renal function (chronic kidney disease stage 2), and five (29.4%) patients had persistent growth retardation at the last follow-up. Long-term prognosis showed no genotype–phenotype correlation. Conclusions: SLC4A1 is the most common defective gene in Korean children with dRTA. Patients with SLC4A1 mutations show later onset and milder disease severity. Long-term follow-up of hearing ability, renal function, and growth is necessary for patients with dRTA.

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Section: Discussionsupporting

confidence: 94%

“…Several comprehensive genotype–phenotype correlation studies of patients with dRTA have been published worldwide [10, 13, 15]. In this Korean cohort study of pediatric patients with dRTA, the most distinctive finding compared to other studies was the high incidence (58.8%) of patients with SLC4A1 mutations (Table 3).…”

Section: Discussionmentioning

confidence: 85%

Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Park

Cho

Hyun

et al. 2018

Kidney Blood Press Res

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“…As for the SLC4A1 group, it is of note that almost no data are available in the literature on children of Occidental origin with this variant form of autosomal dominant dRTA not associated with hemolytic anemia [23][24][25][26][27]. SLC4A1 variants found in our patients have already been related with a late clinical onset of dRTA [18,28,29]. The median age at diagnosis of our patients with SLC4A1 mutations was 10 years.…”

Section: Discussionmentioning

confidence: 73%

“…This study provides interesting findings useful for the diagnosis and phenotypical characterization of primary dRTA. Few publications [18][19][20][21], such as those of Palazzo et al [20] and Besouw et al [22] recently reported, have compared the clinical manifestations of pediatric patients with dRTA classified according to the underlying genetic defect. Among the patients here presented, ten had mutations in theATP6V1B1 gene.…”

Section: Discussionmentioning

confidence: 99%

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Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

et al. 2018

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A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis

Raimondo

Possenti

Andrea

et al. 2022

Pediatric Blood & Cancer

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Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

Cited by 22 publications

References 29 publications

Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis

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