Updated: 3/7/2019

Bartter Syndrome

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Snapshot
  • A 3-year-old boy is brought to the pediatrician due poor growth and increased urinary frequency. According to the mother, the child appears to be very thirsty. He was born prematurely and the mother states she was found to have polyhydramnios on ultrasonograpahy while pregnant. Laboratory testing is significant for hypokalemia, hypochloremia, mild hypomagnesemia, 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
      • neonatal cases
        • can be suspected before birth and diagnosed soon after birth
      • 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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Questions (2)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
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