The future of pharmacogenetics in the treatment of heart failure [PDF]
, 2015 Heart failure is a common disease with high levels of morbidity and mortality. Current treatment comprises β-blockers, ACE inhibitors, aldosterone antagonists and diuretics.
Alex S Doney +11 more
core +2 more sources
Gitelman syndrome combined with complete growth hormone deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Se Ra Min +4 more
doaj +1 more source
The FASEB Journal, Volume 40, Issue 7, 15 April 2026.Kidney size is sex‐dimorphic and regulated by androgens in adult humans and mice. Male mice lacking the main testosterone‐producing enzyme HSD17B3 had reduced testosterone during a short fetal time window, leading to reduced size of kidneys in adults, which were not responsive to high adult testosterone.
Arttu Junnila +14 more
wiley +1 more source
Il Gene del cotrasportatore NaCl tiazide-sensibile è associato con l'attività reninica plasmatica e l'effetto antiipertensivo dei diuretici tiaridici nell'ipertensione arteriosa essenziale [PDF]
, 2009 Essential hypertension originates from gene-environment interaction. Thiazide diuretics play a key role in the treatment of essential hypertension.
Pitzoi, Silvia
core
ENaC activity in collecting ducts modulates NCC in cirrhotic mice. [PDF]
, 2015 Cirrhosis is a frequent and severe disease, complicated by renal sodium retention leading to ascites and oedema. A better understanding of the complex mechanisms responsible for renal sodium handling could improve clinical management of sodium retention.
Beatrice, R. +8 more
core +1 more source
Molecular Characterization of A Novel Mutation In The Renal NaCl Cotransporter Causing Gitelman's Syndrome By Impairing Transporter Trafficking [PDF]
, 2017 Mutations affecting the sodium-chloride cotransporter (NCC) in the distal convoluted tubule of the nephron are causative of Gitelman's syndrome (GS), a rare autosomal recessive disease characterized by electrolytic alterations similar to those induced by
Ravarotto, Verdiana
core +1 more source
Case Reports in Pediatrics, 2021 Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described.
Valeria Calcaterra +6 more
doaj +1 more source
First case of Gitelman syndrome in a child in Macau
Global Pediatrics, 2023 The first case of a child with Gitelman syndrome (GS) in Macau was analyzed. The normotensive child presented with hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemia and hypocalciuria. SLC12A3 gene mutation was detected.
Yan Chen +3 more
doaj +1 more source
Cellular microenvironment of erythropoietin‐producing cells in hypoxic and injured mouse kidneys
Experimental Physiology, Volume 111, Issue 4, Page 2236-2267, 1 April 2026.Abstract The main sources of circulating erythropoietin (Epo) in the adult are kidney Norn cells, a recently identified interstitial cell type capable of becoming renal Epo‐producing (REP) cells following a local decrease in tissue oxygenation. REP cells are restricted to small clusters in the corticomedullary border region, suggesting that their ...
Olga M. Lempke +3 more
wiley +1 more source
Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: Early diagnosis by ultrasonographic study [PDF]
, 2015 Gitelman's syndrome is a rare autosomal-recessive tubular disorder characterized by hypomagnesemia and hypocalciuria associated to hypokalemia. The clinical spectrum is wide and usually characterized by chronic fatigue, cramps, muscle weakness and ...
Zabotti, Alen +5 more
core +2 more sources