Gitelman syndrome
The Gitelman syndrome is a very rare autosomal recessive disease.
Genetics
The person responsible for Gitelman syndrome SLC12A3 gene [ Solute carrier family 12 (sodium / potassium / chloride transporters ), member 3 ] in humans is located on chromosome 16 q13 locus.
Mutations in the SLC12A3 gene cause Gitelman 's syndrome. The gene encoding the protein NCC ( thiazide - sensitive NaCl cotransporter ), the (distal convoluted tubule, DCT) of the nephron is the distal convoluted tubule in the kidney responsible for the transepithelial transport of sodium chloride ( NaCl). Over 100 different mutations, which are spread over the entire protein, have been reported.
Prevalence
The Gitelman syndrome manifests itself only when the mutant alleles are present in homozygous form. The disease is extremely rare for this reason.
The prevalence of heterozygous carriers of the trait is estimated to at least 1 %. In the overall population expect the prevalence is approximately 2:100.000.
Symptoms and diagnosis
The symptoms of Gitelman 's syndrome occur the first time at the age of about six years. Symptoms may thereby cover a broad spectrum. Thus, the Gitelman syndrome also runs asymptomatic in some cases. From mild symptoms, such as slight muscle cramps and fatigue, abdominal pain and vomiting, to severe manifestations, such as convulsive disorders in motor skills ( tetany ), complete paralysis of skeletal muscles ( Plegien ) and dissolution of striated muscle fibers (rhabdomyolysis ), it is sufficient that spectrum.
In the blood, the Gitelman syndrome shows by magnesium and potassium deficiency ( hypokalemia or hypomagnesemia ) and by an increased excretion of magnesium in the urine ( Hypermagnesiurie ). In the urine, further decreased excretion of calcium ( hypocalciuria ) is measurable. The causes of hypomagnesemia and the hypocalciuria are still largely unclear. In contrast to this is in the related Bartter 's syndrome before a hypercalciuria. In the patients, the Gitelman syndrome manifested by hypokalemic alkalosis yet, renal salt wasting and low blood pressure.
Therapy
THe treatment is carried out depending on the symptoms. In addition to the administration of magnesium, sodium and potassium ions, ACE inhibitors and spironolactone can be administered.
Course and prognosis
The prognosis is favorable, with a corresponding therapy and therapy control. Over the long-term effects are still too few data.
History
The Gitelman syndrome was first described in 1966 by Hillel Gitelman. In some patients showed the symptoms of Bartter's syndrome, Gitelman identified a number of different symptoms. He remarked that this disease - compared to Bartter syndrome - much later breaks out and does not affect the length of the body of the patients. Likewise, they do not develop polyuria or polydipsia.