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Background <p>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.</p> Methods <p>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.</p> Results <p>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 <i>SLC4A1</i> (42.4%) and <i>ATP6V1B1</i> (28.8%) were the most common etiologies of distal RTA. Compared to other etiologies, patients with <i>SLC4A1</i> variants were older at symptom onset (<i>P</i> = 0.008). Hematological abnormalities were more frequent in patients with biallelic compared to heterozygous <i>SLC4A1</i> variants (50% vs. 12.5%; <i>P</i> = 0.18). Nephrocalcinosis and metabolic control were similarly prevalent across genetic categories of distal RTA. Sensorineural hearing loss was more common with <i>ATP6V1B1</i> than with <i>ATP6V0A4</i> variants (61.5% vs. 22.2%, <i>P</i> = 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.</p> Conclusions <p>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.</p> Graphical abstract <p></p>

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Etiology and outcomes of primary renal tubular acidosis

  • 期刊论文

  • 发表日期：

    2025年4月15日

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  • Sukanya Priyadarshini,
  • Aditi Sinha,
  • Manisha Jana,
  • Radhika Tandon,
  • Kapil Sikka,
  • Vijay Prakash Mathur,
  • Girish Chandra Bhatt,
  • Menka Yadav,
  • Jitendra Kumar Meena,
  • Priyanka Khandelwal,
  • Pankaj Hari,
  • Arvind Bagga

摘要

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.

Graphical abstract