Distar Renal Tubular Acidosis (dRTA): Epidemiological, diagnostics, clinical follow-up and therapeutical issues. Nephrologists cohort survey outcome

José Vicente Torregrosa Prats; Fernando Santos Rodríguez; Emilio González Parra; Laura Espinosa Román; Juan Manuel Buades Fuster; Enrique Monteagud-Marrahí; Victor Manuel Navas Serrano

doi:10.1016/j.nefroe.2021.02.002

Distar Renal Tubular Acidosis (dRTA): Epidemiological, diagnostics, clinical follow-up and therapeutical issues. Nephrologists cohort survey outcome

Nefrologia (Engl Ed). 2021 Jan-Feb;41(1):62-68. doi: 10.1016/j.nefroe.2021.02.002. Epub 2021 Feb 25.

Authors

José Vicente Torregrosa Prats¹, Fernando Santos Rodríguez², Emilio González Parra³, Laura Espinosa Román⁴, Juan Manuel Buades Fuster⁵, Enrique Monteagud-Marrahí¹, Victor Manuel Navas Serrano⁶

Affiliations

¹ Hospital Clinic, Barcelona, Spain.
² Hospital Universitario Central de Asturias, Oviedo, Spain.
³ Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.
⁴ Hospital Universitario La Paz, Madrid, Spain.
⁵ Hospital Universitario Son Llatzer, Palma de Mallorca, Spain.
⁶ Advicenne Pharma Iberia, Villanueva del Pardillo, Madrid, Spain. Electronic address: vnavas2007@hotmail.com.

PMID: 36165363
DOI: 10.1016/j.nefroe.2021.02.002

Abstract

Background and objectives: dRTA is a genetic or acquired rare disease, characterized by an unability to excrete hydrogens (H+) into urine, hypobicarbonatemia, hyperchloremia, and frequently hypercalciuria and hypokalaemia. Genetic forms are usually diagnosed during the first months of life and its treatment is based on providing alkali supplements in order to prevent long term clinical consequences, particularly chronic kidney disease (described in some cohorts up to 82% of dRTA patients) and the associated bone disease. A 10 queries multi choice closed response survey was designed to know more about epidemiological, diagnostics, clinical management and therapeutical issues of this disease among Spanish nephrologists.

Methods and materials: This survey was delivered to the attendees to a scientific meeting on dRTA at the Spanish Nephrology Society congress in 2019. Surveys were collected at the end of this dRTA event. Results were analyzed by using a parametric statistical test, obtaining the percentage of each response for the 10 questions.

Results: Among the survey responders, 44.4% and 37.7% did not visit any dRTA patient during the 1st and 3rd last year respectively. When having a suspicious diagnose, confirming genetic diagnostic test is only performed on the 13.3% of cases and pedigree studies only on 11.1%. Only a 26.6% confirms that metabolic control is excellent, good or very good. 69% of the responders believe that treatment compliance is not bad, bad or very bad.

Conclusions: This survey enhances the fact that dRTA is not a well known entity, satisfaction with metabolic control is poor and compliance is low. All these factors can lead to a higher severity of renal and bone diseases associated to dRTA.

Keywords: Acidosis tubular renal distal; Bone disease; Calciuria; Chronic renal disease; Distal renal tubular acidosis; Enfermedad renal crónica; Enfermedad ósea; Hipobicarbonatemia; Hipokaliemia; Hypobicarbonatemia; Hypokalemia.