Bartter Syndrome
A group of inherited salt-wasting kidney tubule disorders, caused by genes such as SLC12A1, KCNJ1, CLCNKB, BSND and CASR, with low potassium, metabolic alkalosis and high urine calcium.
Co se diagnózou změní
Knowing guides salt and potassium replacement and monitoring of growth and kidney calcification.
Známé také jako
Bartter disease; Bartter's syndrome; hypokalemic alkalosis; hypokalemic alkalosis with hypercalciuria; Potassium wasting; renal tubular normotensive hypokalemic alkalosis with hypercalciuria; salt-losing tubular disorder, Henle's loop type; salt-wasting tubulopathy, Henle's loop type
Zahrnuty jsou také specifické formy
Bartter Disease Type 1
Autozomálně recesivní
Bartter Disease Type 2
Autozomálně recesivní
Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.
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.
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.
Bartter Disease Type 5
X-vázaně recesivní
Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.
Zahrnuje 8 příbuzných podtypů ↓Skrýt podtypy ↑
- Bartter disease type 1
- Bartter disease type 2
- Bartter disease type 3
- Bartter disease type 4A
- Bartter disease type 4B
- Bartter disease type 5
- Bartter syndrome type 4
- Bartter syndrome with hypocalcemia
