Gitelman Syndrome

Also known as

  • Gitelman Syndrome

Gitelman Syndrome is a life threatening genetic inherited kidney disease.

Condition details

It is caused by a defect in the renal tubules thus causing low potassium, low magnesium and low calcium levels. It is located in the distal convoluted tubule of the kidney. It causes the kidney to waste magnesium, sodium, potassium and chloride into your urine, instead of re-absorbing it back into your blood stream as it's supposed to.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Adult
Lay terms Clinical terms
  • Low potassium Low magnesium Low calcium Heart rhythm problems Muscle weakness Joint pain
  • Hypokalemia Metabolic alkalosis Hypocalciuria Hypomagnesemia Arrthrythmias Calcium in the joints

Affected genes identified to date

  • SLC12A3

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

Symptoms have been noted

How many are affected?

1 in 40,000

Support groups and organisations

Mrs Natalie Gee
Gitelman Syndrome online patient resource
285 Dales Road
Ipswich
Suffolk
Ip1 4LR
UK
Tel 07787131789
Facebook

Known experts

Professor of Nephrology Fiona Karet
Field of interestRenal genetic and tubular disorders
Addenbrookes hospital
Tel
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