Living with Distal Renal Tubular Acidosis: Qualitative Research with Nephrologists, Patients, and Caregivers

Abstract Rationale & Objective: Clinical consequences of distal renal tubular acidosis (dRTA) may include profound dehydration, failure to thrive, growth delay, rickets, hearing impairment/loss, nephrocalcinosis, and nephrolithiasis. Little has been published about patients’ and caregivers’ lived experiences with this rare disease. This study provides context and understanding of patients’ and caregivers’ perspectives as well as the nephrologists’ experiences managing the patient with dRTA.Study Design: Descriptive qualitative study. Setting & Participants: One-on-one, semi-structured, one-hour telephone/WebEx interviews were performed using an interview guide. Four pediatric nephrologists experienced in the treatment of dRTA, two adult patients, a pediatric patient and caregiver pair, and one caregiver of a pediatric patient participated from the United States. Analytical Approach: Thematic analysis of interview transcripts was conducted utilizing a qualitative data analysis software.Results: Three primary themes emerged from the analysis of the interviews: diagnostic challenges, burden of disease, and burden of treatment. Nephrologists provided complete insights into the diagnostic and clinical challenges associated with dRTA and its management, including previous misdiagnosis, and poor adherence to medication regimen. Patients and caregivers added to understanding the significant physical, social, emotional, educational/professional, and health-related quality of life (HRQoL) impacts of the disease. Patients, caregivers, and nephrologists were aligned on the significant unmet needs associated with current medicinal standard of care (SoC) due to high dosing frequency, low palatability, and tolerability of available treatments.Limitations: Due to rare disease recruitment challenges, the sample size was small and lacked geographic diversity. Conclusion: Interview findings bridge the gap in knowledge regarding patient and caregiver lived experience with dRTA and support the need for increased recognition of the disease and the use of algorithms to improve the diagnostic challenges. Key findings included frequent alkali dosing is a barrier to medication adherence and the need for improved social/emotional support for patients and caregivers.