Bartter Syndrome

Szintén szereplő specifikus formák

• Bartter Disease Type 1

  Autoszomális recesszív

  SLC12A1

• Bartter Disease Type 2

  Autoszomális recesszív

  Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.

  KCNJ1

• Bartter Disease Type 3

  Autoszomális recesszív

  Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.

  CLCNKB

• Bartter Syndrome Type 4

  Autoszomális recesszív

  A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.

  BSND, CLCNKB

• Bartter Disease Type 5

  X-kromoszómához kötött recesszív

  Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.

  MAGED2