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

Kidney & blood pressure research - 1 Jan 2021

D'Ambrosio Viola, Azzarà Alessia, Sangiorgi Eugenio, Gurrieri Fiorella, Hess Bernhard, Gambaro Giovanni, Ferraro Pietro Manuel

Abstract excerpt

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 renal function, and bone demineralization. dRTA is a well-defined entity that can be diagnosed by genetic testing of 5...

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PMID: 34107482
DOI: 10.1159/000516389

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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