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Bartter Syndrome (BS)

Definition

Bartter syndrome is a rare inherited disease charachterized by thickness of the ascending limb of the loop of Henle which results in salt wasting, low potassium and metabolic alkalosis. Mutations of several genes encoding the transporters involved in salt reabsortion cause different types of BS. The majority are autosmal recessive, but there are also autosomal dominant forms.

Why to perform genetic testing in cases with suspected BS?

  • To confirm the diagnosis
  • To better perform risk stratification and prognosis
  • To identify other relatives at risk to develop the disease
  • To enable the possibility of eventual future gene therapy

 

Our BS panel

BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: The yield of the genetic test in clear phenotyped cases is close to 80%

 

Recommended Literature

  • Bartter syndrome: causes, diagnosis, and treatment
    Da Silva Cunha et al. Int J Nephrol Renovasc Dis. 2018; 11: 291–301.
  • Tsang SH, et al., Ciliopathy: Bardet-Biedl Syndrome. Adv Exp Med Biol. 2018;1085:171-174.
  • Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia. Bao M, et al., Clin Exp Hypertens. 2019;41(4):381-388.
  • Bartter Syndrome and Gitelman Syndrome. Fulchiero R, Seo-Mayer P. Pediatr Clin North Am. 2019 Feb;66(1):121-134.

 

Download here interesting open access manuscripts on BS