Liddle Syndrome Overview
Learn About Liddle Syndrome
Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.
Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a piece (subunit) of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, where the channels transport sodium into cells.
Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Di Zhang practices in Beijing, China. Zhang is rated as an Elite expert by MediFind in the treatment of Liddle Syndrome. Their top areas of expertise are Liddle Syndrome, Low Potassium Level, Apparent Mineralocorticoid Excess, and Hypoaldosteronism.
Peng Fan practices in Beijing, China. Mr. Fan is rated as an Elite expert by MediFind in the treatment of Liddle Syndrome. His top areas of expertise are Liddle Syndrome, Sengers Syndrome, Low Potassium Level, and Takayasu Arteritis.
Kun-qi Yang practices in Beijing, China. Yang is rated as an Elite expert by MediFind in the treatment of Liddle Syndrome. Their top areas of expertise are Liddle Syndrome, Low Potassium Level, Apparent Mineralocorticoid Excess, and Familial Progressive Cardiac Conduction Defect.
Summary: The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: * Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. * Audit treatments and outcomes. An audit makes checks to see if ...
Published Date: March 01, 2013
Published By: National Institutes of Health