What is it?
Bartter syndrome/Gitelman syndrome refers to a rare group of conditions that affect the kidneys.
- Bartter Syndrome is divided up into subtypes according to the different genetic causes of the condition.
- Bartter Syndromes type 1 and 2 are clinically similar.
- Bartter Syndrome type 3 is often similar to Gitelman Syndrome and is dealt with separately (these conditions affect the working of the kidney, they do not cause structural damage.
- Gitelman Syndrome is a kidney disorder seen in older children and young adults caused by:
- Low potassium in the blood (hypokalemia)
- Low magnesium in the blood (hypomagnesemia) and low calcium in the urine (hypocalciuria).
- People with Gitelman and Bartter Syndromes are therefore unlikely to need dialysis or a kidney transplant).
- Bartter Syndrome type 4 has the added problem of deafness.
- This deafness is of sensorineural type, the problem being in translating the vibration of sound into nerve impulses in the inner ear.
- Unfortunately the hearing loss cannot be reversed, but hearing aids may be prescribed, and audiological evaluation and follow-up are important.
- Each condition is caused by changes in one gene that is important for moving salt around in the kidneys.
- The proteins produced from these genes are involved in the kidneys ‘reabsorption’ of salt (sodium chloride or NaCl) from urine back into the bloodstream.
Mutations in either gene impair the kidneys’ ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other ions, including ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major features of Gitelman syndrome.
- People with Type 1.2.,4 Bartter syndrome have a loss of potassium (hypokalaemia), a high level of bicarbonate ( (hypokalaemic alkalosis).
- People with Type 3 Bartter 3 and Gitelman and will have a loss of potassium (hypokalaemia), a high level of bicarbonate (hypokalaemic alkalosis) and/or loss of Magnesium.
- In Gitelman syndrome one also has a low calcium in the urine (hypocalciuria) (there may be also high levels of renin in the blood (hyperreninemia), and high levels of aldosterone in the blood (hyperaldosteronemia). The latter two laboratory findings are appropriate regulatory responses to dehydration caused by salt wasting kidney).
Cause
- Family history
- Type 1 Bartter syndrome, this gene is called SLC12A1
- Type 2 Bartter syndrome, this gene is called ROMK2
- Type 3 Bartter Syndrome, the gene is called CLCNKB
- Type 4 Bartter syndrome is caused by changes in one or two of three genes, BSND (Barttin), CLCNKA and CLCNKB
- Gitelman Syndrome,this gene is called SLC12A3, the CLCNKB gene
Complications /Information to beware of/General tips:
This condition may show similar symptoms to:
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Bartter’s Syndrome/Gitelman Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
- NHS
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- Medscape
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