Bartter Syndrome

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Contents 1 More Specific Terms 2 Introduction 3 Etiology 4 Epidemiology 5 Pathology 6 Genetics 7 Clinical-manifestations 8 Laboratory 9 Management 10 More General Terms 11 Additional Terms 12 Internet Database 13 References

More Specific Terms

• Bartter syndrome type 1 (SLC12A1 linked)
• Bartter syndrome type 2 (hyperprostanglandin E syndrome 2, KCNJ1 linked)
• Bartter syndrome type 3 (classic Bartter syndrome)
• Bartter syndrome type 4 (infantile Bartter syndrome with sensorineural deafness)

Introduction

• Primary juxtaglomerular cell hyperplasia with secondary hyperaldosteronism
  

• (Also see hyperaldosteronism.)

Etiology

• genetic defect in chloride reabsorption in the thick ascending loop of Henle

Epidemiology

• occurs in children

Pathology

• defect in chloride reabsorption in the thick ascending loop of Henle
• defect in sodium reabsorption
• pronounced salt wasting
• secondary hyperaldosteronism
• hypokalemic metabolic alkalosis
• varying degrees of hypercalciuria
• overproduction of prostaglandins
• hyperplasia of juxtaglomerular & medullary interstitial cells

Genetics

• autosomal recessive inheritance

Clinical-manifestations

• normal blood pressure
• no edema
• polyuria
• nocturia
• growth is generally retarded

Laboratory

• arterial blood gas: metabolic alkalosis
• aldosterone markedly increased
• renin mildly to moderately increased
• hypomagnesemia
• hypokalemia
• urinalysis: urine chloride > 20 meq/L
• biopsy: juxtaglomerular hyperplasia

Management

• prostaglandin inhibitors are temporarily effective
• potassium supplementation
• spironolactone ( Aldactone)
• ACE inhibitor

More General Terms

• genetic disease of the kidney
• endocrine disease
• genetic syndrome (multisystem disorder)

Additional Terms

• Gitelman syndrome
• hyperaldosteronism

Internet Database

OMIM: 241200
OMIM: 600359
OMIM: 600839

References

1. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2049
2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 622
3. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324

Bartter syndrome