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ArticlePediatric nephrology (Berlin, Germany)2025

Etiology and outcomes of primary renal tubular acidosis.

Sukanya Priyadarshini, Aditi Sinha, Manisha Jana, Radhika Tandon, Kapil Sikka, Vijay Prakash Mathur, Girish Chandra Bhatt, Menka Yadav, Jitendra Kumar Meena, Priyanka Khandelwal and 2 more

Abstract read
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In one paragraph

Article in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026
    Observational
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Sukanya PriyadarshiniDivision of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Aditi SinhaDivision of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. aditisinhaaiims@gmail.com.ORCID 0000-0002-9566-3370
Manisha JanaDepartment of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.
Radhika TandonDr. Rajendra Prasad Center for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Kapil SikkaDepartment of Otorhinolaryngology, All India Institute of Medical Sciences, New Delhi, India.
Vijay Prakash MathurCenter for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
Girish Chandra BhattDepartment of Pediatrics, All India Institute of Medical Sciences, Bhopal, India.
Menka YadavDivision of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Jitendra Kumar MeenaDivision of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Priyanka KhandelwalDivision of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Pankaj HariDivision of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Arvind BaggaDivision of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

Funding

Indian Council of Medical Research 33/12/2019-TF/Rare/BMSIndian Council of Medical Research 5/7/1090/2013-RHN
6 · The paper itself

Abstract

backgroundThis study investigates the etiology, outcomes, and genotype-phenotype correlations in patients with renal tubular acidosis (RTA) at a tertiary care center in New Delhi.

methodsThis cross-sectional study included children and young adults with RTA who underwent clinical, biochemical, radiological and/or genetic evaluations between July 2020 and December 2024. We report clinical phenotype, anthropometry, metabolic control and progression to chronic kidney disease (CKD) in relation to genotype of distal RTA.

resultsOf 135 patients enrolled, 69 had distal RTA. The yield of genetic testing was 72% in distal RTA and 88.7% in Fanconi syndrome. Variants in SLC4A1 (42.4%) and ATP6V1B1 (28.8%) were the most common etiologies of distal RTA. Compared to other etiologies, patients with SLC4A1 variants were older at symptom onset (P = 0.008). Hematological abnormalities were more frequent in patients with biallelic compared to heterozygous SLC4A1 variants (50% vs. 12.5%; P = 0.18). Nephrocalcinosis and metabolic control were similarly prevalent across genetic categories of distal RTA. Sensorineural hearing loss was more common with ATP6V1B1 than with ATP6V0A4 variants (61.5% vs. 22.2%, P = 0.099) and did not vary by metabolic control. At median follow-up of 5-years, 74.1% of patients with distal RTA had short stature, 74.6% had poor metabolic control and 2.9% had progressed to CKD G3-5.

conclusionsThis study outlines the genetic etiology and phenotype of distal RTA in south Asia. Over short-term follow-up, poor metabolic control and severe stunting were common, while CKD was uncommon.

Indexed as

Acidosis, Renal TubularRenal Insufficiency, ChronicAdolescentAdultAnion Exchange Protein 1, ErythrocyteChildChild, PreschoolCross-Sectional StudiesDisease ProgressionFanconi SyndromeFemaleGenetic Association StudiesGenetic TestingHumansIndiaInfantAnion Exchange Protein 1, ErythrocyteATP6V1B1 protein, humanSLC4A1 protein, humanVacuolar Proton-Translocating ATPasesChronic kidney diseaseDistal renal tubular acidosisNephrocalcinosisSensorineural hearing loss

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.