Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia
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.
Authors
- Sreyashi Bose
- Nikhil Rao
- Vaibhav Keskar (ORCID: https://orcid.org/0000-0002-8990-3331)
- Tejashree More
- Prabhakar Kedar (ORCID: https://orcid.org/0000-0003-3509-2913)
- Prajakta Kadu
- Tukaram Jamale (ORCID: https://orcid.org/0000-0003-4334-1860)
- Anurag Lila (ORCID: https://orcid.org/0000-0002-9623-4471)
- Tushar Bandgar (ORCID: https://orcid.org/0000-0002-6902-4639)
- Sayali Thakare (ORCID: https://orcid.org/0000-0002-4710-6561)
- Divya Bajpai (ORCID: https://orcid.org/0000-0003-2294-0506)
- Tulsi Modi
- Rita Bothara
- Ashwini Joga
- Geetanjali Thakur
- Niwrutti Hase
- Abhimanyu Singh Sardar
- Thenral S. Geetha
- Pratap Jadhav
- Nanda Pai
- B. T. Deshmukh
- Prateek Shirke
- Kruteesh Kumar BS
Institutions
- King Edward Memorial Hospital and Seth G.S. Medical College (IN)
- ICMR - National Institute of Immunohaemotology (IN)
- Jupiter Medical Center (US)
- Fortis Hospital (IN)
- SciGenom Labs (India) (IN)
Publication Details
- Journal
- Nephrology Dialysis Transplantation
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1093/ndt/gfaf222
- Citations
- 1
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.81