BARTTER SYNDROME

AMENAH SHAHIN
PRESENTED TO DR. SAMIR ZAWAHREH
BARTTER SYNDROME
 Batter syndrome is autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia,
metabolic alkalosis, and hyperreninemia with normal blood pressure. The underlying kidney abnormality results
in excessive urinary losses of sodium, chloride, and potassium. It mimics the effects of loop diuretics such as
furosemide which inhibits the Na-K-2Cl symporter
 It is the result of a defective Na/K/2 C| cotransporter, or NKCC2, in the thick ascending loop of Henle (TAL). This
cotransporter mediates the secondary active transport of one sodium, one potassium, and two chloride ions from
the lumen into the tubular cells (across the apical membrane).
 Less commonly, Bartter Syndrome may arise from a loss-of-function mutation in renal outer medullary potassium
channels (ROMK), which are ATP dependent channels involved in renal potassium homeostasis. These channels
play two critical roles in the TAL - potassium recycling (essential for sodium reabsorption) and generating a
positive transepithelial gradient. which drives paracellular reabsorption of divalent cations (magnesium and
calcium)
TYPES

1. Neonatal (type 1 and 2) in utero presents as maternal polyhydramnios, secondary to fetal polyuria, is evident by
24-30 weeks' gestation. Delivery often occurs before term. The newborn has massive polyuria (rate as high as 12-
50 mL/kg/h). As neonates it presents as fever, dehydration and early onset of nephrocalcinosis
2. Classical (type 3) in infantile as polyuria and growth retardation. Nephrocalcinosis is not a feature.
3. Type 4 linked with sensorineural hearing loss due to mutation of Barttin gene at chromosome 1p
PHYSICAL FINDINGS

 Patients are thin and have reduced muscle mass and a

triangularly shaped face, which is characterized by a
prominent forehead, large eyes, protruding ears, and
drooping mouth. Blood pressure is within the
reference range.
 LAB TESTS

 Due to the defective NKCC2 cotransporter, sodium ions are lost in the urine. Failure to reabsorb sodium causes both
salt loss (natriuresis) and water loss. This leads to volume depletion and hypotension which is sensed by the
juxtaglomerular cells. And high sodium chloride concentration in the filtrate of the DCT is sensed by the macula
densa cells. Both of these activate the RAAS and increases aldosterone levels. Aldosterone exacerbates hypokalemia
by promoting potassium and hydrogen ion excretion in exchange for sodium reabsorption.
 Due to defective NKCC2 cotransporter, calcium is also lost in the urine, resulting in hypercalciuria. This
differentiates it from Gitelman, which is associated with hypocalciuria. Increased hypercalciuria over time results in
nephrocalcinosis and nephrolithiasis.
TREATMENT

 Natriuresis causes polyuria while activation of RAAS causes polydipsia from stimulation of thirst center in the
hypothalamus.
 Treatment is lifelong potassium-sparing diuretics, particularly those that inhibit RAAS, such as spironolactone
which is a mineralocorticoid receptor antagonist which helps counteract the increased aldosterone levels in
patients.