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Gitelman syndrome

MIM.263800

Monday 14 December 2009

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