Gitelman Syndrome– This is a rare autosomal recessive genetic disorder characterized by hypomagnesemia (low blood magnesium), hypocalciuria (abnormally decrease calcium level in urine) and secondary aldosteronism (high blood aldosterone hormone levels), which is responsible for hypokalemia (low blood potassium) and metabolic alkalosis (blood pH suggest high alkalinity). This disorder is also known by the name of Familial Hypokalemia-Hypomagnesemia.
What is Gitelman Syndrome?
As stated, Gitelman Syndrome, which is also known by the name of Familial Hypokalemia (low blood potassium)-Hypomagnesemia (low blood magnesium), is an autosomal recessive disorder of the renal tubules in which there is development of hypomagnesemia, hypocalciuria (low urine calcium excretion), and secondary aldosteronism resulting in hypokalemia and metabolic alkalosis. This is one of the frequent inherited disorders of the renal tubules.
Causes of Gitelman Syndrome
Gitelman Syndrome is connected to inactivating mutations in SLC12A3 gene causing loss of function of Thiazide-sensitive Sodium Chloride co-transporter. Gitelman Syndrome as stated is an autosomal-recessive condition and the defective gene has to be inherited from each parent.
Symptoms of Gitelman Syndrome
Individuals affected with Gitelman Syndrome are usually above seven years of age and in majority of cases a confirmed diagnosis is not made until adulthood. Majority of affected individuals suffer from tetany usually during with fever or vomiting and diarrhea. There may also be frequent complaints of facial paresthesias. Some individuals also experience fatigue, which hampers their daily activities. Some affected individuals may also have chondrocalcinosis as a result of significant loss of magnesium from the body resulting in swelling and tenderness at the affected joints.
Diagnosis of Gitelman Syndrome
A diagnosis of Gitelman Syndrome can be made depending on symptoms experienced by the individual and other chemical abnormalities to include presence of hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Treatment for Gitelman Syndrome
The mainstay of treatment of Gitelman Syndrome is dependent on the treatment of the symptoms. Apart from that, frequent monitoring is also required. The vitamins and minerals lost can be replenished.
The overall prognosis of Gitelman Syndrome is actually excellent, although the degree of fatigue may significantly affect the individual in performance of daily activities.
