Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia

Sayali Thakare; Anurag Lila; Vaibhav Keskar; Thenral S. Geetha; Kruteesh Kumar BS; Nikhil Rao; Ashwini Joga; Prateek Shirke; Abhimanyu Singh Sardar; Rita Bothara; Prajakta Kadu; Geetanjali Thakur; Tulsi Modi; Sreyashi Bose; Divya Bajpai; Tejashree More; Prabhakar Kedar; B. T. Deshmukh; Nanda Pai; Pratap Jadhav; Tushar Bandgar; Niwrutti Hase; Tukaram Jamale

doi:10.1093/ndt/gfaf222

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Abstract

Primary dRTA in Asian Indians is a genetically diverse disease, and is characterised by delayed diagnosis, severe growth failure, bone deformities, and decreased kidney function in the long term. Findings from this study highlight the regional diversity and expand genotype-phenotype correlations in primary dRTA.

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Thakare et al. (2025) studied this question.

synapsesocial.com/papers/69dd112bceb896e1a0e52e1e https://doi.org/10.1093/ndt/gfaf222

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Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia

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Abstract

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Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia

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Abstract

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