Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man

Simeoni, Mariadelina; Columbano, Valeria; Suzumoto, Yoko; Salviano, Lívia Maria Oliveira; Capolongo, Giovanna; Zacchia, Miriam; Blanco, Francesca Del Vecchio; Perna, Alessandro; Nigro, Vincenzo; Capasso, Giovambattista; Trepiccione, Francesco

doi:10.1093/qjmed/hcaa104

Cited by 1 publication

(1 citation statement)

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“…Loss-of function mutations in the gene encoding NCC are associated with Gitelman syndrome, an autosomal recessive form of salt wasting, low blood pressure, hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria (Fig. 2 ) [ 70 , 71 ]. Mouse model with deletion of NCC (NCC − / − ) showed similar phenotypes as Gitelman's syndrome, with mild perturbations of sodium and fluid volume homeostasis (Table 1 ).…”

Section: The Roles Of Ncc In the Control Of Blood Pressurementioning

confidence: 99%

Kidney and blood pressure regulation—latest evidence for molecular mechanisms

Suzumoto

Zucaro

Iervolino

et al. 2023

Clinical Kidney Journal

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Hypertension is one of the major health problems leading to the development of cardiovascular diseases. Despite a rapid expansion in global hypertension prevalence, molecular mechanisms leading to hypertension are not fully understood largely due to the complexity of pathogenesis involving several factors. Salt intake is recognized as a leading determinant of blood pressure, since reduced dietary salt intake is related to lower morbidity and mortality, and hypertension in relation with cardiovascular events. Compared with salt-resistant populations, salt-sensitive individuals exhibit high sensitivity in blood pressure responses according to changes in salt intake. In this setting, kidney plays a major role on the maintenance of blood pressure under the hormonal control of Renin-Angiotensin-Aldosterone System (RAAS). In the present review, we summarize the current overview on the molecular mechanisms for modulation of blood pressure associated with renal ion channels/transporters including NHE3, NKCC2, NCC, ENaC and Pendrin expressed in different nephron segments. In particular, recent studies on experimental animal models with deletion of renal ion channels led to the identification of several crucial physiological mechanisms and molecules involved in hypertension. These findings could further provide a potential for novel therapeutic approaches applicable on human patients with hypertension.

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Section: The Roles Of Ncc In the Control Of Blood Pressurementioning

confidence: 99%