Gitelman Syndrome

Gitelman Syndrome (GS) is a rare, inherited condition of the kidney that can give rise to various complications in a patient. Know all about the disorder, including its development, possible causes, symptoms, treatment options and more.

What is Gitelman Syndrome?

It is characterized by the loss of function of the kidney to absorb salt back from urine into the blood. It not only hampers with the transportation of salt but also that of essential minerals like calcium, magnesium and potassium. This ionic imbalance leads to several complications in the body of a patient.

Gitelman Syndrome Synonyms

This disease is referred to by several other names like:

  • Familial hypokalemia – hypomagnesemia
  • Gitelman’s Syndrome

Gitelman Syndrome Causes

This is an austosomal recessive disorder which affects the kidneys. Parents carry a mutated gene, which augments the risk of their child to inherit it. The defect lies in the Thiazide Co-Transporter, the functionality of which is affected due to the mutations in the SLC12A3 gene. This gene is entrusted with the production of proteins that help the kidneys to carry out the function of reabsorbing the salts and ions into the bloodstream. The defect in the gene leads to the wastage of the minerals through urine.

Symptoms of Gitelman Syndrome

In most of the cases, the disease does not give rise to any symptoms. Sometimes, the symptoms may start showing in the adolescent years of a child. Children may exhibit symptoms after they reach the age of 6, although only in rare cases. In adults, the condition can be diagnosed during investigation following hypokalemia.

Some of the main signs of this syndrome are:

  • Weakness of the muscles
  • Poor height and weight gain
  • Neuromuscular irritability
  • Tiredness
  • Possible joint pain (due to Hypomagnesemia)
  • Hyponatremia
  • Metabolic Alkalosis
  • Stable or excess level of aldosterone
  • Chronic dermatitis
  • Heightened plasma rennin activity
  • Tetany heart palpitations
  • Salt craving

Gitelman Syndrome Diagnosis

It can be diagnosed by conducting a physical examination along with urine and laboratory tests. Symptoms of the patient have to be considered and medical history to be consulted for diagnosis. Urine tests are done to check potassium and sodium content. Usually, calcium concentration is low in urine tests. High pH value in blood also indicates this syndrome. DNA test can also be conducted to reach to a definite conclusion. If the diagnosis of mutation running in the family has been identified, embryo and carrier diagnosis is possible. Diagnosis via blood tests findings includes low potassium and magnesium. Most of the time, since it doesn’t show symptoms, often it is accidentally discovered while conducting other laboratory tests. Especially during adolescence, it can be incidentally diagnosed during other investigations. There may be a need to perform several other tests to distinguish it from Bartter Syndrome, which is almost similar.

Differential Diagnosis

In order to perform differential diagnosis, evaluation of hormone along with analysis of electrolytes is primary.

Treatment for Gitelman Syndrome

All the patients might not require treatment. Treatment guidelines for this disorder mainly involve normalizing levels of sodium, blood potassium, chloride and magnesium. By taking these supplements, much of the symptoms can be cured:

  • Potassium Supplements
  • Spironolactone
  • Magnesium Supplements
  • Amilioride
  • Triamterene

Magnesium supplements work wonders for some, if given in right dosage every day. This is done under medical supervision to avoid any side effects (like Diarrhea) arising due to the use of such supplements. In case of severe muscle cramps, intravenous administration of magnesium might be deemed necessary. It helps in controlling hypokalemia and hypomagnesemia.

NSAIDs are prescribed to adults who are suffering from chondrocalcinosis due to GS. Close monitoring of certain patients may be necessary. Beta blockers and specific medications for asthma might affect heart. Naturally, these should be carefully administered to GS patients. Patients are always advised to take breaks from physical activities and never to over-strain. Proper diets, rich in potassium and sodium, should be followed.

Gitelman Syndrome during Pregnancy

Reports about pregnancy among patients diagnosed with GS are not frequent. It might be a tad difficult to manage pregnancy during this condition. Several complications may arise which would require expert management.

Gitelman Syndrome Life Expectancy

The life expectancy of patients with GS tends to be good. It has to be managed with life-long use of supplements or similar treatment modalities.

Prognosis of Gitelman Syndrome

This syndrome does not lead to kidney failure. Hence, renal functions remain intact. Prognosis is excellent with proper diagnosis and treatment. Patients, who do not show any symptoms, might need to be kept under monitoring of nephrologists. Yearly checkups might be conducted to know about any anomaly arising due to the disorder in future.

Gitelman Syndrome and Bartter Syndrome

GS was first discovered by Dr Hillel Gitelman in the year 1966. Bartter syndrome (BS) is uncannily similar to the disease. However, it occurs due to NKCC2 gene mutations. GS was previously supposed to be a subset of BS. However, that was rectified later. GS patients display a lack of calcium in urine, increase in magnesium in urine and hypomagnesemia or lack of magnesium in blood. BS patients, on the other hand, do not exhibit such traits.  However, wastage of salt is common in both the disorders. In Type 1 patients with BS, there is a risk of kidney stones due to calcification in kidneys along with loss of kidney functions.

Gitelman Syndrome Incidence

GS is a rare disease, but can be found globally. GS seems to be more common than BS. According to a study, only 1 among 40,000 may be afflicted with it. But patients with BS are found to be rare, making up to around 1 among 1,000,000.

Gitelman Syndrome Support Groups

Patients with GS can approach support groups online as well as in person. These support groups furnish information about the disease, treatment, diagnosis including several other important aspects to the patients. They also share experiences and stories of patients apart from videos, forums and suggestions from doctors. They provide support and care to the ailing ones who otherwise feel lonely and helpless. Some of these support groups are:

The Bartter Site

Website: http://barttersite.org

The Genetic and Rare Diseases Information Center (GARD)

P.O. Box 8126

Gaithersburg, MD 20898-8126

Fax: (301) 251-4911

References:

http://health.groups.yahoo.com/group/NephroTalk/message/442?var=1

http://www.socialstyrelsen.se/rarediseases/barttersyndromeandgitelmansynd

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518128/

http://barttersite.org/gitelman-syndrome-orphanet/#more-160

http://en.wikipedia.org/wiki/Gitelman_syndrome

http://rarediseases.about.com/od/kidneyurinarydisorders/a/gitelman.htm

Leave a Reply

Your email address will not be published. Required fields are marked *