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Bartter Syndrome

Topic updated on 02/28/17 9:08pm

Snapshot
  • A 2-year-old boy is brought to the pediatrician due to vomiting and frequent urination. His mother reports that he appears to be very thirsty. Obstetric history is significant for prematuritry and polyhydramnios noted on prenatal testing. Laboratory testing is significant for hypokalemia, hypochloremia, and metabolic alkalosis.
Introduction

  • Clinical definition
    • a renal tubular disorder characterized by
      • hypokalemia
      • hypochloremia
      • metabolic alkalosis
      • normotension
      • elevated plasma renin level
  • Epidemiology
    • incidence
      • rare
      • precise incidence is unknown
    • demographics
      • in neonatal cases
        • can be suspected before birth and diagnosed soon after birth
      • in classic cases
        • begins around 2 years of age or younger
      • no race or sex predilection
    • risk factors
      • family history
  • Pathophysiology
    • pathobiology
      • mutation involving the Na+/K+/Cl- cotransporter (NKCC2) results in salt and water loss resulting in
        • activation of the renin-angiotensin-aldosterone system secondary to volume depletion
        • renal vasoconstriction due to angiotensin II and hypokalemia leads to an increase in prostaglandin E (PGE)
  • Genetics
    • inheritance pattern
      • autosomal recessive
  • Prognosis
    • can slowly progress to interstitial fibrosis resulting in chronic renal failure
Presentation
  • Symptoms
    • failure to thrive
    • increased thirst
    • polyuria
    • polydipsia
    • vomiting
  • Physical exam
    • clinical volume depletion
    • maternal polyhydramnios
    • growth retardation
Studies
  • Labs
    • plasma renin and aldosterone
    • serum potassium and chloride
    • urine prostaglandin E
    • genetic testing
Differential
  • Diuretic abuse
  • Gitleman syndrome
  • Surreptitious vomiting
  • Mineralocorticoid excess
  • Cystic fibrosis
Renal Tubular Defects
Category
Fanconi Syndrome
Bartter Syndrome Gitelman Syndrome Liddle Syndrome
Defect localization
  • Proximal tubule
  • Thick ascending loop of Henle
  • Distal convoluted tubule   
  • Collecting tubule      
Etiology
  • Wilson disease
  • Tyrosinemia
  • Cystinosis
  • Multiple myeloma
  • Galactosemia
  • Mitochondrial myopathies
  • Medications
    • aminoglycosides
    • cisplatin
    • ifosfamide
    • valproic acid
  • Heavy metals
    • mercury
    • lead
  • Autosomal recessive mutation involving the NKCC2 cotransporter
  • Autosomal recessive mutation involving the Na+Cl- cotransporter
  • Autosomal dominant mutation leading to increased activity of epithelial sodium channel (ENaC)
Findings
  • Hypophosphatemia
  • Aminoaciduria
  • Renal glucosuria
  • Tubular proteinuria
  • Proximal renal tubular acidosis
  • Hypokalemia
  • Hypochloremia
  • Metabolic alkalosis
  • Normotension
  • Elevated plasma renin level
  • Hypokalemia
  • Hypochloremia
  • Metabolic alkalosis
  • Hypomagnesemia
  • Hypocalciuria
  • Normotension
  • Hypertension
  • Hypokalemia
  • Metabolic alkalosis
 
Treatment
  • Medical
    • nonsteroidal anti-inflammatory drugs (NSAIDs)
      • indication
        • for patients with Bartter syndrome
      • drugs
        • indomethicin
        • celecoxib
    • potassium-sparring diuretics
      • indication
        • to treat hypokalemia and metabolic alkalosis in Bartter syndrome
      • drugs
        • spironolactone
        • eplerenone
        • amiloride
    • potassium and magnesium supplementation
      • indication
        • to help improve potassium and magnesium levels in Bartter syndrome
Complications
  • Cardiac arrhythmia due to severe hypokalemia


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