A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy
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...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2014/156250 |
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| author | Amelia Caretto Liviana Primerano Francesca Novara Orsetta Zuffardi Stefano Genovese Maurizio Rondinelli |
| author_facet | Amelia Caretto Liviana Primerano Francesca Novara Orsetta Zuffardi Stefano Genovese Maurizio Rondinelli |
| author_sort | Amelia Caretto |
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| description | 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. |
| format | Article |
| id | doaj-art-e4f6387989c049ceb22e9b6800c31cfb |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-e4f6387989c049ceb22e9b6800c31cfb2025-02-03T05:44:39ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922014-01-01201410.1155/2014/156250156250A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during PregnancyAmelia Caretto0Liviana Primerano1Francesca Novara2Orsetta Zuffardi3Stefano Genovese4Maurizio Rondinelli5Department of Medicine, San Raffaele Scientific Institute and Università Vita-Salute, Via Olgettina 60, 20132 Milan, ItalyDepartment of Obstetrics and Gynecology, Hospital Buzzi, Via Castelvetro 32, 20154 Milan, ItalyDepartment of Molecular Medicine, University of Pavia, Via Forlanini 14, 27100 Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Via Forlanini 14, 27100 Pavia, ItalyDiabetes and Endocrine Unit, Cardiovascular and Metabolic Department, IRCCS Multimedica, Via Milanese 300, 20099 Sesto San Giovanni, ItalyDiabetes and Endocrine Unit, Cardiovascular and Metabolic Department, IRCCS Multimedica, Via Milanese 300, 20099 Sesto San Giovanni, ItalyLiddle’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.http://dx.doi.org/10.1155/2014/156250 |
| spellingShingle | Amelia Caretto Liviana Primerano Francesca Novara Orsetta Zuffardi Stefano Genovese Maurizio Rondinelli A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy Case Reports in Obstetrics and Gynecology |
| title | A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy |
| title_full | A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy |
| title_fullStr | A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy |
| title_full_unstemmed | A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy |
| title_short | A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy |
| title_sort | therapeutic challenge liddle s syndrome managed with amiloride during pregnancy |
| url | http://dx.doi.org/10.1155/2014/156250 |
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