scholarly journals Liddle’s syndrome mechanisms, diagnosis and management

2019 ◽  
Vol Volume 12 ◽  
pp. 13-22 ◽  
Author(s):  
Benjamin T Enslow ◽  
James D Stockand ◽  
Jonathan M Berman
Keyword(s):  
Diagnosis And Management ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

Liddle's syndrome: late diagnosis of a rare cause of arterial hypertension

2002 ◽  
Vol 78 (3) ◽  
pp. 251-4 ◽  
Author(s):  
Ana C. S. Silva ◽  
Eduardo A. Oliveira ◽  
Camila R. Gomes ◽  
Flávio Souza Lima ◽  
José S.S. Diniz
Keyword(s):  
Arterial Hypertension ◽  
Late Diagnosis ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

scholarly journals Liddle’s syndrome mutations increase proteolytic cleavage of ENaC

2006 ◽  
Vol 20 (4) ◽  
Author(s):  
Kristin K Knight ◽  
Diane R Olson ◽  
Ruifeng Zhou ◽  
Peter M Snyder
Keyword(s):  
Proteolytic Cleavage ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

scholarly journals A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Amelia Caretto ◽  
Liviana Primerano ◽  
Francesca Novara ◽  
Orsetta Zuffardi ◽  
Stefano Genovese ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Mineralocorticoid Receptor ◽  
Young Patients ◽  
Pregnancy Hypertension ◽  
Single Drug ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome ◽  
Multidisciplinary Teamwork ◽  
In Pregnancy ◽  
Epithelial Sodium Channel Enac

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.

A Case of Adrenocortical Adenoma Causing Subclinical Cushing's Syndrome Mistaken for Liddle's Syndrome

2006 ◽  
Vol 21 (1) ◽  
pp. 58
Author(s):  
Kyu Hong Kim ◽  
Kwang Hyun Kim ◽  
Ho Yoel Ryu ◽  
Soo Min Nam ◽  
Mi Young Lee ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Cushing's Syndrome ◽  
Adrenocortical Adenoma ◽  
Subclinical Cushing’S Syndrome ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

scholarly journals A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel β‑subunit

2019 ◽  
Author(s):  
Xia Ding ◽  
Na Jia ◽  
Cong Zhao ◽  
You Zhong ◽  
Dapeng Dai ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Deletion Mutation ◽  
Β Subunit ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome
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