Bartter syndrome
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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
- far less common than Gitelman's syndrome[4]
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
- typically presents in early childhood[4]
- normal to low blood pressure[4]
- no edema, mild volume depletion[4]
- polyuria
- nocturia
- growth is generally retarded
Laboratory
- arterial blood gas: metabolic alkalosis
- basic metabolic panel
- aldosterone in serum markedly increased
- renin in plasma mildly to moderately increased
- magnesium in serum: hypomagnesemia
- urinalysis:
- urine chloride > 20 meq/L
- normal to increased urine calcium[4]
Diagnostic procedures
- renal biopsy: juxtaglomerular hyperplasia
Management
- prostaglandin inhibitors are temporarily effective
- potassium supplementation
- spironolactone (Aldactone)
- ACE inhibitor
More general terms
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)
Additional terms
References
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2049
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 622
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 Medical Knowledge Self Assessment Program (MKSAP) 17, 19 American College of Physicians, Philadelphia 2015, 2021
Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022