OBJECTIVES: Clinical consequences of distal renal tubular acidosis (dRTA) may include profound dehydration, failure to thrive, growth delay, hearing impairment/loss, nephrocalcinosis, and nephrolithiasis. Little has been published about patients’ and caregivers’ lived experiences with dRTA, including burden of disease and unmet needs of current standard of care (SoC) therapies. This preliminary descriptive qualitative study provides context and understanding of patients’ and caregivers’ lived perspectives as well as the nephrologists’ experiences managing the patient with dRTA.

METHODS:One-on-one, semi-structured, one-hour telephone/WebEx interviews with two adult patients, a pediatric patient and caregiver pair, and one caregiver of a pediatric patient were performed. Four pediatric nephrologists experienced in dRTA, following 1-5 patients each, participated from the United States. An interview guide was used to facilitate discussion. Thematic analysis of interview transcripts was conducted utilizing a qualitative data analysis software.

RESULTS:Nephrologists provided insights into the clinical challenges associated with dRTA and its management, including diagnostic challenges (e.g., secondary forms of dRTA), and poor adherence to medication regimen. Patients and caregivers added to understanding the significant negative impacts of the disease on physical health and functioning (fatigue, poor appetite, weakened immune system), social and emotional functioning (anxiety/worry, coping mechanisms, occurrences of marital discord), academic or professional life (missing school or limiting involvement in career-related activities), and health-related quality of life (chronic treatments, frequent blood tests, difficulty traveling, need for hearing aids). All were aligned on burden of treatment associated with current SoC (number of pills, low palatability, and poor tolerability).

CONCLUSIONS: Interview findings provide individual views that help bridge the gap in knowledge regarding patient and caregiver lived experience with dRTA and support the need for increased recognition of dRTA. These findings also support the need for alkali therapy with improved tolerability and patient acceptability to decrease the treatment burden and improve adherence.