Gitelman syndrome

the Gitelman variant of Bartter syndrome is caused by mutation in the thiazide-sensitive Na-Cl cotransporter (SLC12A3; MIM.600968).

Synopsis

 Autosomal recessive
 Onset in childhood (later than in antenatal Bartter syndrome MIM.241200)
 Polyuria
 Renal potassium wasting
 Renal magnesium wasting
 Chondrocalcinosis
 Generalized muscle weakness
 Muscle cramps
 Tetany
 Seizures
 Paresthesias
 Paralysis, episodic, after strenuous exercise
 Hypokalemic alkalosis
 Polydipsia
 Increased plasma renin
 Hypokalemia
 Hypomagnesemia
 Hypocalciuria

Etiology

 Caused by mutation in the thiazide-sensitive Na-Cl cotransporter (SLC12A3, MIM.600968)

See also

 Bartter syndrome (MIM.241200)
 pseudoaldosteronism (MIM.177200)

References

 Earle, D. P.; Sherry, S.; Eichna, L. W.; Conan, N. J. : Low potassium syndrome due to defective renal tubular mechanisms for handling potassium. Am. J. Med. 11: 283-301, 1951. PubMed ID : 14877834

 France, R.; Tolleson, W. J. : Potassium depletion of undetermined origin in two brothers. Trans. Am. Clin. Climatol. Assoc. 69: 106-112, 1958.

 A.; Hebert, S. C. : Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in the kidney. J. Biol. Chem. 269: 17713-17722, 1994. PubMed ID : 8021284

 Gamba, G.; Saltzberg, S. N.; Lombard, M.; Miyanoshita, A.; Lytton, J.; Hediger, M. A.; Brenner, B. M.; Hebert, S. C. : Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter. Proc. Nat. Acad. Sci. 90: 2749-2753, 1993. PubMed ID : 8464884

 Gitelman, H. J.; Graham, J. B.; Welt, L. G. : A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Assoc. Am. Phys. 79: 221-235, 1966. PubMed ID : 5929460

 Hisakawa, N.; Yasuoka, N.; Itoh, H.; Takao, T.; Jinnouchi, C.; Nishiya, K.; Hashimoto, K. : A case of Gitelman’s syndrome with chondrocalcinosis. Endocr. J. 45: 261-267, 1998. PubMed ID : 9700481

 Jeck, N.; Konrad, M.; Peters, M.; Weber, S.; Bonzel, K. E.; Seyberth, H. W. : Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediat. Res. 48: 754-758, 2000. PubMed ID : 11102542

 Ng, H.-Y.; Lin, S. H.; Hsu, C.-Y.; Tsai, Y.-Z.; Chen, H.-C.; Lee, C.-T. : Hypokalemic paralysis due to Gitelman syndrome: a family study. Neurology 67: 1080-1082, 2006. PubMed ID : 17000984

 Pachulski, R. T.; Lopez, F.; Sharaf, R. : Gitelman’s not-so-benign syndrome. (Letter) New Eng. J. Med. 353: 850-851, 2005. PubMed ID : 16120871

 Simon, D. B.; Nelson-Williams, C.; Bia, M. J.; Ellison, D.; Karet, F. E.; Molina, A. M.; Vaara, I.; Iwata, F.; Cushner, H. M.; Koolen, M.; Gainza, F. J.; Gitelman, H. J.; Lifton, R. P. : Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genet. 12: 24-30, 1996. PubMed ID : 8528245

 Spencer, R. W.; Voyce, M. A. : Familial hypokalaemia and hypomagnesaemia: a further family. Acta Paediat. Scand. 65: 505-508, 1976. PubMed ID : 945655

 Zarraga Larrondo, S.; Vallo, A.; Gainza, J.; Muniz, R.; Garcia Erauzkin, G.; Lampreabe, I. : Familial hypokalemia-hypomagnesemia or Gitelman’s syndrome: a further case. Nephron 62: 340-344, 1992. PubMed ID : 1436349