What is Gitelman syndrome?
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence.
Who is Gitelman syndrome named after?
Angelman syndrome was once known as ‘happy puppet syndrome’ because of the child’s sunny outlook and jerky movements. It is now called Angelman syndrome after Harry Angelman, the doctor who first investigated the symptoms in 1965.
When was Gitelman syndrome discovered?
History. The condition is named for Hillel Jonathan Gitelman (1932– January 12, 2015), an American nephrologist working at University of North Carolina School of Medicine. He first described the condition in 1966, after observing a pair of sisters with the disorder.
What causes Bartter’s syndrome?
Bartter syndromes are caused by recessive mutations in the SLC12A1 gene (type 1), the KCNJ1 gene (type 2), the CLCNKB gene (type 3), the BSND gene (type 4A), or both the CLCNKA and CLCNKB genes (type 4B). Genes provide instructions for creating proteins that play a critical role in many functions of the body.
How is Gitelman’s syndrome treated?
There is no cure for Gitelman syndrome. The mainstay of treatment for affected individuals is a high salt diet with oral potassium and magnesium supplements. Potassium rich foods such as dried fruit are helpful. Magnesium supplements in single large doses cause diarrhea and should be avoided.
Is Gitelman syndrome an autoimmune disease?
Gitelman syndrome is an inherited disease. However, Gitelman syndrome can be acquired in patients with autoimmune diseases, especially Sjögren’s syndrome. The presence of circulating auto-antibodies to NCCT was suggested as a mechanism of acquired Gitelman syndrome.
What is happy baby syndrome?
People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities. Developmental delays, which begin between about 6 and 12 months of age, are usually the first signs of Angelman syndrome.
How do you get Gitelman syndrome?
Most cases of Gitelman syndrome are caused by mutations in the SLC12A3 gene. In a minority of cases, mutations in the CLCNKB gene cause the disorder. Genes provide instructions for creating proteins that play a critical role in many functions of the body.
Why does Gitelman syndrome cause metabolic alkalosis?
The elevated aldosterone levels give rise to increased electrogenic sodium reabsorption in the cortical collecting duct via the epithelial sodium channel (ENaC), defending salt homeostasis at the expense of increased secretion of potassium and hydrogen ions, thus resulting in hypokalemia and metabolic alkalosis.
Is Gitelman syndrome serious?
Fundamentally, like Bartter’s syndrome, Gitelman syndrome is a salt wasting nephropathy. The symptoms and severity of the disorder can vary greatly from one person to another and can range from mild to severe. For unknown reasons, the onset of symptoms is frequently delayed until the second decade of life.
How do you manage Gitelman syndrome?