Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis

• Main Authors: Viola D'Ambrosio (Author), Alessia Azzarà (Author), Eugenio Sangiorgi (Author), Fiorella Gurrieri (Author), Bernhard Hess (Author), Giovanni Gambaro (Author), Pietro Manuel Ferraro (Author)
• Format: Book
• Published: Karger Publishers, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH. If not treated, this chronic condition eventually leads to nephrocalcinosis, nephrolithiasis, impaired rena...