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. 2025 Aug;40(8):2515-2527.
doi: 10.1007/s00467-025-06747-9. Epub 2025 Apr 15.

Etiology and outcomes of primary renal tubular acidosis

Sukanya Priyadarshini  1 , Aditi Sinha  2 , Manisha Jana  3 , Radhika Tandon  4 , Kapil Sikka  5 , Vijay Prakash Mathur  6 , Girish Chandra Bhatt  7 , Menka Yadav  1 , Jitendra Kumar Meena  1 , Priyanka Khandelwal  1 , Pankaj Hari  1 , Arvind Bagga  1
Affiliations

Etiology and outcomes of primary renal tubular acidosis

Sukanya Priyadarshini et al. Pediatr Nephrol. 2025 Aug.

Abstract

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

Methods: This 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.

Results: Of 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.

Conclusions: This 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.

Keywords: Chronic kidney disease; Distal renal tubular acidosis; Nephrocalcinosis; Sensorineural hearing loss.

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Conflict of interest statement

Declarations. Conflict of interest: All authors declare no competing interests.

References

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