Author: Enrico Orzes 23 June 2023
Dr. Giulia Florio (University “Vanvitelli” of Naples): “Together with colleagues from Padua we are evaluating a method to measure bicarbonatemia in saliva”
An essential aspect in the field of rare diseases is to try to make diagnostic tools not only ever faster but also less invasive for patients, especially when a pathology tends to manifest itself from an early age. This is precisely the case ofacidosis tubular renale distale (dRTA)a rare disease in which the buildup of acids in the body causes a situation known as metabolic acidosis.
The first therapeutic approach to dRTA involves the administration of an alkalizing therapy to correct the pH and restore electrolyte balance. This means that, to calibrate the therapy, the dosage of the bicarbonates must be carried out regularly to monitor its concentration (bicarbonatemia represents the level of bicarbonates in the blood): however, repeated blood draws can be a problemespecially in the case of younger patients, who fear this practice.
During third National meeting dedicated to dRTA, held in Montecatini Terme between 3 and 4 June last, there was also talk of the new possibilities offered by research to overcome this obstacle, thus contributing to improving adherence to treatments. “Is it really necessary to prick the little patients to measure the bicarbonates in the body?”, said the Dr. Giulia Floriodoctor belonging to the University of Campania “Luigi Vanvitelli” and to the research institute Biogem (Click here or on the image of the article to watch the video interview). “We started from this simple question and, together with researchers from the University of Padua, we looked for a way to dose bicarbonates in saliva and see if they correlate with those in the blood.” The project, born from the discussion between doctors and patients’ families, has the advantage of reduce the need for an invasive practice such as intravenous blood samplingwhich children experience with anxiety and discomfort but which, in the case of dRTA, must be repeated with a certain frequency to monitor the level of bicarbonates.
“It is difficult to predict the developments and effects of scientific research on the patient”, concludes Florio. “Nevertheless, studying the pathophysiology of dRTA and what the mutations capable of causing it involve at the cellular and molecular levels will help us better understand the disease, predict its effects and better treat patients.”
The video interview with Dr. Giulia Florio was made thanks to the non-conditioning contribution of SPA-Società Prodotti Antibiotici.