title: A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy.
abstract: Liddle's syndrome (LS) is a rare heritable form of hypertension that often affects young patients. It is caused by gain-of-function mutations of the kidney epithelial sodium channel (ENaC) and it is classically associated with hypokalemia and suppression of renin and aldosterone. LS is characterized by responsiveness to ENaC inhibitors but not to mineralocorticoid receptor inhibitors. Consequently the most effective treatment is amiloride. This drug is not used in pregnancy, as it has not been sufficiently studied during gestation. However for pregnant LS patient amiloride is the most effective drug in decreasing blood pressure. Herein we report the case of a LS patient, who has been followed up by a multidisciplinary teamwork during her first pregnancy. Hypertension worsened after the 25th week of gestation and amiloride was safely administered, firstly in combination with hydrochlorothiazide (the only formulation commercially available in Italy) and, thereafter, as a single drug. Genetic testing was performed in the patient's family in order to support diagnosis and clinical management.
authors.affiliation: Department of Medicine, San Raffaele Scientific Institute and Università Vita-Salute, Via Olgettina 60, 20132 Milan, Italy.
authors.forename: Amelia
authors.identifier: 0000-0003-1153-6700
authors.initials: A
authors.lastname: Caretto
authors.affiliation: Department of Obstetrics and Gynecology, Hospital Buzzi, Via Castelvetro 32, 20154 Milan, Italy.
authors.forename: Liviana
authors.initials: L
authors.lastname: Primerano
authors.affiliation: Department of Molecular Medicine, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.affiliation: Department of Molecular Medicine, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy.
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.affiliation: Diabetes and Endocrine Unit, Cardiovascular and Metabolic Department, IRCCS Multimedica, Via Milanese 300, 20099 Sesto San Giovanni, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Genovese
authors.affiliation: Diabetes and Endocrine Unit, Cardiovascular and Metabolic Department, IRCCS Multimedica, Via Milanese 300, 20099 Sesto San Giovanni, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Rondinelli