Anonymous ID: bfe5c2 April 17, 2023, 6:24 p.m. No.18712699   🗄️.is 🔗kun   >>2720 >>2729

>>18712211

>"Liddle"

 

Liddle Syndrome

Disease Overview

Summary

Liddle syndrome is a rare genetic disorder caused by abnormal kidney function that results in high blood pressure (hypertension). This disorder is caused by a disease-causing variant (mutation) in one of 3 genes (SCNN1A, SCNN1B, and SCNN1G) that encode the epithelial sodium channel (ENaC).

 

While ENaC is present throughout the body in organs such as the lungs and kidney, ENaC activity in the kidney characterizes the clinical presentation. Mutation of one of the 3 genes that cause Liddle syndrome results in higher-than-normal ENaC activity. Over-active ENaC in the distal nephrons of the kidney leads to excessive sodium reabsorption and associated electrolyte imbalances. The excess sodium retention effects blood pressure control, resulting in hypertension that is resistant to most anti-hypertensive medications. Potassium secretion in the kidney is affected, and low concentration of serum blood potassium (hypokalemia) is present in most, but not all, patients.

 

Plasma renin activity and serum aldosterone levels are low. Severity of hypertension, which is the presenting finding, varies from mild to severe, even in patients in the same family. The symptoms and severity can vary by age, sex and life events such as pregnancy. Amiloride, a potassium-sparing diuretic, inhibits ENaC, and is the mainstay of therapy. Additional treatment includes a low-salt diet and additional anti-hypertensive medications, as needed.

 

https://rarediseases.org/rare-diseases/liddle-syndrome/

Anonymous ID: bfe5c2 April 17, 2023, 6:28 p.m. No.18712729   🗄️.is 🔗kun

>>18712699

>>18712211

>"Liddle"

House Liddle

House Liddle is the formal name given to the mountain clan of the Liddles in the north that inhabit the high mountains north of the wolfswood.[3]

 

The chief of the clan is known as "The Liddle", although at Winterfell he is given the treatment of "Lord Liddle".

 

Their arms are per pale white and green, a fir tree line between, three brown pinecones on the white.[4] Their motto does not appear in the books.

https://awoiaf.westeros.org/index.php/House_Liddle