Gitelman Syndrome

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Classification according to ICD-10
E26.8 Other hyperaldosteronism
- Gitelman syndrome
ICD-10 online (WHO version 2019)

The Gitelman syndrome is a very rare autosomal - recessive inherited kidney disease . It's a tubulopathy .

genetics

The SLC12A3 gene responsible for Gitelman syndrome [ Solute carrier family 12 (sodium / potassium / chloride transporters), member 3 ] is located in humans on chromosome 16 gene locus q13.

Mutations in the SLC12A3 gene lead to Gitelman syndrome. The gene codes for the NCC protein (thiazide-sensitive NaCl co-transporter), which is responsible for the transepithelial transport of saline (NaCl) in the distal convolute of the tubules ( distal convoluted tubule , DCT) of the nephron in the kidneys . Over 100 different mutations that are distributed throughout the protein are known.

Prevalence

Gitelman syndrome only manifests itself when the mutated alleles are homozygous . For this reason, the disease is extremely rare.

The prevalence of heterozygous carriers is estimated to be at least 1%. The prevalence of Gitelman syndrome for the total population is around 2: 100,000.

Symptoms and Diagnosis

The symptoms of Gitelman's syndrome occur the first time at the age of about six years. The symptoms can cover a wide range. In some cases, Gitelman syndrome is symptom-free. The spectrum ranges from mild symptoms, such as slight muscle cramps and tiredness, to abdominal pain and vomiting , to severe manifestations such as cramp-like disorders in motor skills ( tetania ), complete paralysis of the skeletal muscles ( plegia ) and the dissolution of striated muscle fibers ( rhabdomyolysis ) .

In blood , the Gitelman syndrome indicated by a magnesium and potassium deficiency (hypomagnesaemia or hypokalemia) and in the urine by a correspondingly increased excretion of magnesium ( Hypermagnesiurie ). A reduced excretion of calcium ( hypocalciuria ) can also be measured in the urine . The causes of hypomagnesaemia and hypocalciuria are still largely unclear. In contrast, the related Bartter syndrome has hypercalciuria . In affected patients, Gitelman syndrome manifests itself as hypokalemic alkalosis , renal salt loss and low blood pressure (arterial hypotension ).

therapy

The therapy takes place depending on the symptoms. In addition to the administration of magnesium, sodium and potassium ions, ACE inhibitors and spironolactone can also be administered.

Course and prognosis

The prognosis is favorable with appropriate therapy and therapy control. Too little data is available on the long-term effects.

History

Gitelman syndrome was first described by Hillel J. Gitelman (1932 to 2015) in 1966 . Gitelman noted a number of different symptoms in some patients who had symptoms of Bartter's syndrome . He noticed that this disease - compared to Bartter syndrome - breaks out much later and does not affect the patient's body length . Likewise, they do not develop polyuria or polydipsia . There is also no renal insufficiency .

References and footnotes

  1. ↑ a b c I. Meij, N. Knoers: Gitelman syndrome In: Orphanet encyclopedia. May 2003.
  2. ↑ a b Roland Schmitt: The expression of sodium transport proteins in the distal rat nephron during ontogenesis. Dissertation, Humboldt University Berlin, 2000.
  3. ^ A. Voiculescu: Unchanged a challenge - diagnosis and therapy of hypokalaemia. In: The clinic doctor. 35, 2006, pp. 348-352, doi: 10.1055 / s-2006-954831 .
  4. ↑ a b Henning Ott: Mutation analysis in hereditary salt loss tubulopathies. Dissertation, Philipps University Marburg, 2004.
  5. ↑ DN Cruz et al .: Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life. In: Kidney Int . 59/2001, pp. 710-7.
  6. ↑ A. Bettinelli et al .: Use of calcium excretion values ​​to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. In: J. Pediatr. 120/1992, pp. 38-43.
  7. ↑ DB Simon et al .: Gitelman's variants of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na Cl cotransporter. In: Nature Genetics . 12/1996, pp. 24-30.
  8. ^ DB Simon, RP Lifton: Ion transporter mutations in Gitelman's and Bartter's syndromes. In: Curr. Op. Nephrol. Hypert. 7/1998, pp. 43-47.
  9. ^ Hillel J. Gitelman et al.: A new familial disorder characterized by hypokalemia and hypomagnesemia. In: Trans. Assoc. At the. Phys. 79/1966, pp. 221-235. PMID 5929460
  10. ^ Whonamedit: Gitelman's syndrome , accessed April 14, 2008.

literature

  • MJ Lentze, Klaus Heyne: Pediatrics: Basics and Practice. Springer, 2003, ISBN 3-540-43628-6 .
  • K. Lhotta: Tubular Kidney Diseases. In: Viennese clinical weekly Education. 2/2007, pp. 59-71. doi : 10.1007 / s11812-007-0023-z
  • HJ Gitelman: Hypokalaemia, hypomagnesiaemia, and alkalosis: A rose is a rose-or is it? In: J. Pediatr. 120/1992, pp. 79-80.
  • NV Knoers, EN Levtchenko: Gitelman syndrome. In: Orphanet J Rare Dis. 2008 Jul 30; 3, p. 22. PMID 18667063 , PMC 2518128 (free full text)

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