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Università della Svizzera italiana

Dietary chloride deficiency syndrome : pathophysiology, history, and systematic literature review

Signorelli, Giulia C. ; Bianchetti, Mario G. ; Jermini, Luca M. M. ; Agostoni, Carlo ; Milani, Gregorio P. ; Simonetti, Giacomo D. ; Lava, Sebastiano A. G.

In: Nutrients, 2020, vol. 12, no. 11, p. 10 p

Metabolic alkalosis may develop as a consequence of urinary chloride (and sodium) wasting, excessive loss of salt in the sweat, or intestinal chloride wasting, among other causes. There is also a likely underrecognized association between poor salt intake and the mentioned electrolyte and acid–base abnormality. In patients with excessive loss of salt in the sweat or poor salt intake, the...

Université de Fribourg

Cathepsin B increases ENaC activity leading to hypertension early in nephrotic syndrome

Larionov, Alexey ; Dahlke, Eileen ; Kunke, Madlen ; Rodriguez, Luis Zanon ; Schiessl, Ina M. ; Magnin, Jean‐Luc ; Kern, Ursula ; Alli, Abdel A. ; Mollet, Geraldine ; Schilling, Oliver ; Castrop, Hayo ; Theilig, Franziska

In: Journal of Cellular and Molecular Medicine, 2019, vol. 23, no. 10, p. 6543–6553

The NPHS2 gene, encoding the slit diaphragm protein podocin, accounts for genetic and sporadic forms of nephrotic syndrome (NS). Patients with NS often present symptoms of volume retention, such as oedema formation or hypertension. The primary dysregulation in sodium handling involves an inappropriate activation of the epithelial sodium channel, ENaC. Plasma proteases in a...