What is Bartter and Gitelman syndrome?

Bartter syndrome and Gitelman syndrome are autosomal recessive renal disorders characterized by fluid, electrolyte, urinary, and hormonal abnormalities, including renal potassium, sodium, chloride, and hydrogen wasting; hypokalemia; hyperreninemia and hyperaldosteronism without hypertension; and metabolic alkalosis.

What is the 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.

What are the symptoms of hypokalemia?

What are the symptoms of low potassium levels?

Muscle twitches.
Muscle cramps or weakness.
Muscles that will not move (paralysis)
Abnormal heart rhythms.
Kidney problems.

What are the symptoms of Liddle syndrome?

Liddle syndrome is a rare hereditary disorder involving increased activity of the epithelial sodium channel (ENaC), which causes the kidneys to excrete potassium but retain too much sodium and water, leading to hypertension. Symptoms are of hypertension, fluid retention, and metabolic alkalosis.

What are the symptoms of Bartter syndrome?

Common symptoms include muscle weakness, cramping, spasms and fatigue. Excessive thirst (polydipsia), excessive urination (polyuria), and the need to urinate at night (nocturia) may also occur. Despite excessive fluid intake, frequent urination can lead to dehydration. Some children may crave salt.

Why is there hypokalemia in Bartter syndrome?

Bartter syndrome (BS) is currently recognized as a rare inherited renal tubular disorder that affects around 1 in 1,000,000 of the population, caused by a defective salt reabsorption in the thick ascending limb (TAL) of loop of Henle, resulting in salt wasting, hypokalemia, and metabolic alkalosis with relatively low …

Can adults get Bartter syndrome?

Bartter’s syndrome is a rare cause of chronic hypokalemic alkalosis in adults. Neverthless, Neverthless, the syndrome has aroused great interest in many clinical investigators because it may provide new insights in to renal electrolyte metabolism and the pathophysiology of hypertension3).

What are the causes of Bartter and Gitelman syndrome?

‘Bartter’ and ‘Gitelman’ syndromes are recessively inherited salt-wasting disorders associated with secondary hyperaldosteronism and (usually) a low blood pressure. Gitelman syndrome is caused by inactivating mutations of SLC12A3 that encodes the thiazide-sensitive sodium chloride co-transporter (NCC) in the distal convoluted tubule (DCT) [ 1 ].

What is the treatment for Gitelman and Bartter?

The mainstay of treatment in Gitelman and Bartter is sodium, potassium and magnesium supplementation. ‘Liddle syndrome’ and ‘chronic liquorice ingestion’ also cause hypokalaemia, but with hypertension and aldosterone suppression.

Which is autosomal dominant Liddle or Bartter syndrome?

NSAIDs reduce polyuria and salt wasting in Bartter’s syndrome (increased renal PGE2 production in Bartter’s). Bartter’s and Gitelmann’s are autosomal recessive ( AR) while Liddle’s is autosomal dominant ( AD ).

What kind of disease does Liddle syndrome cause?

Liddle syndrome is due to autosomal dominant ENaC gain-of-function mutations [ 6 ], leading to suppression of renin and aldosterone [ 7 ]. It presents early in life with hypertension, hypokalaemia and alkalosis, although presentation in adulthood has been reported.

What is Bartter and Gitelman syndrome? Bartter syndrome and Gitelman syndrome are autosomal recessive renal disorders characterized by fluid, electrolyte, urinary, and hormonal abnormalities, including renal potassium, sodium, chloride, and hydrogen wasting; hypokalemia; hyperreninemia and hyperaldosteronism without hypertension; and metabolic alkalosis. What is the Liddle syndrome? Liddle syndrome is an inherited form of high blood…