Bartter Syndrome

Zahrnuty jsou také specifické formy

• Bartter Disease Type 1

  Autozomálně recesivní

  SLC12A1

• Bartter Disease Type 2

  Autozomálně recesivní

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

  KCNJ1

• Bartter Disease Type 3

  Autozomálně recesivní

  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

  Autozomálně recesivní

  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-vázaně recesivní

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

  MAGED2