Bhandarkar A, Varmudy A, Boro H, Bhat S. Renal tubular acidosis: Varied aetiologies and clinical presentations: Three case reports. World J Nephrol 2025; 14(2): 104760 [DOI: 10.5527/wjn.v14.i2.104760]
Corresponding Author of This Article
Sowrabha Bhat, Associate Professor, Department of Endocrinology, Yenepoya Medical College, University Road, Deralakatte, Mangalore 575018, Karnātaka, India. sowrabhas@gmail.com
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Akhila Bhandarkar, Department of Endocrinology, K. S. Hegde Medical Academy, Mangalore 575018, Karnātaka, India
Anwitha Varmudy, Department of Nephrology, Indiana Hospital and Heart Institute, Mangalore 575002, Karnātaka, India
Hiya Boro, Department of Endocrinology, Aadhar Health Institute, Hisar 125001, Haryāna, India
Sowrabha Bhat, Department of Endocrinology, Yenepoya Medical College, Mangalore 575018, Karnātaka, India
Co-first authors: Akhila Bhandarkar and Anwitha Varmudy.
Co-corresponding authors: Hiya Boro and Sowrabha Bhat.
Author contributions: Bhandarkar A contributed to conceptualization and manuscript writing; Boro H and Varmudy A contributed to manuscript writing and editing; Bhat S contributed to conceptualization, manuscript writing and supervision; all authors have read and approved the final manuscript. Bhandarkar A and Varmudy A contributed equally to this work as co-first authors. The two authors suggested as co-corresponding authors have contributed almost equally to the manuscript and its development into its current form. Boro H has wonderful research experience and deserves to be a co-corresponding author here. A corresponding author has a prestigious position in a manuscript and an opportunity to be one is a coveted privilege. Also, having 2 designated corresponding authors has eased the process of communication with the journal.
Informed consent statement: Informed consent was obtained from all patients included in this case series.
Conflict-of-interest statement: All the authors have declared no competing interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Sowrabha Bhat, Associate Professor, Department of Endocrinology, Yenepoya Medical College, University Road, Deralakatte, Mangalore 575018, Karnātaka, India. sowrabhas@gmail.com
Received: January 6, 2025 Revised: February 26, 2025 Accepted: March 10, 2025 Published online: June 25, 2025 Processing time: 96 Days and 1.9 Hours
Abstract
BACKGROUND
Renal tubular acidosis (RTA) refers to a group of kidney disorders characterized by defective acid excretion or bicarbonate reabsorption, leading to metabolic acidosis. This case series presents three cases of RTA with distinct etiologies and clinical manifestations. These cases emphasize the necessity of a comprehensive evaluation of RTA, considering both renal and systemic origins.
CASE SUMMARY
The first case describes a female patient with osteopetrosis-related RTA, diagnosed with Guibaud-Vainsel syndrome, emphasizing the importance of genetic assessment. The second case delineates RTA secondary to focal segmental glomerulosclerosis, associating tubular dysfunction with glomerular pathology. In the first two cases whole exome sequencing confirmed genetic diagnosis. The third case illuminates RTA as a complication of Graves’ disease, highlighting autoimmune implications.
CONCLUSION
These cases underscore the interdisciplinary approach essential in RTA management. Understanding the diverse pathophysiology of RTA aids in tailored therapeutic strategies and improved patient outcomes.
Core Tip: Renal tubular acidosis (RTA) is characterized by systemic acidosis due to impaired ability of kidneys to excrete acid or absorb bicarbonate. The etiology is varied with both renal and extrarenal causes. Here we present three unique cases of RTA due to rare etiologies. Associated features may provide a clue to diagnosis in these cases such as osteopetrosis, thyrotoxicosis and renal failure. Whole exome sequencing may help. These cases emphasize the importance of multi-disciplinary approach to such cases for evaluation and management.
