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Kidney non-tumor

Hereditary renal disease

Bartter’s syndrome


Reviewer: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 6 August 2012, last major update August 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Rare, < 150 cases reported
● Hypokalemia, metabolic alkalosis, hyperaldosteronism, growth retardation, normal blood pressure but with blunted pressor response to exogenous angiotensin II (eMedicine)
● Also polyuria, impairment of concentrating ability, increased renin, angiotensin II and prostaglandins
● Hyperuricemia and gouty arthritis are common (Saudi J Kidney Dis Transpl 2010;21:1129)
Neonatal type: more severe, presents with polyhydramnios due to intrauterine polyuria; also high urinary calcium, nephrocalcinosis, severe failure to thrive and marked growth retardation
Classic type: develops during first months or years with failure to thrive, dehydration, growth retardation, at most mild hypercalciuria and no significant nephrocalcinosis
● Pseudo-Bartter's syndrome: hypokalemic metabolic alkalosis and persistent failure to thrive due to cystic fibrosis (Acta Paediatr 2011;100:e234)

Etiology
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● Due to primary molecular defect in NaCl reabsorption in thick ascending limb of Henle’s loop
● Causes increased delivery of NaCl to distal and collecting tubules, which promotes increased potassium and acid secretion in collecting tubules; leads to hypokalemia, metabolic alkalosis
● Lack of NaCl reabsorption is associated with lack of calcium reabsorption
● Salt wasting and volume depletion cause renin secretion and increased serum angiotensin II and aldosterone, further stimulating potassium and acid secretion, causing hypokalemia and acidosis

Case reports
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● Presentation in two sisters (J Bras Nefrol 2012;34:82)

Treatment
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● Large doses of oral KCl with spironolactone; possibly ACE inhibitors, indomethacin, ibuprofen (Indian J Nephrol 2010;20:207)
● Potassium sparing diuretics may not be indicated during pregnancy (Am J Med Sci 2009;338:500)

Micro description
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● Hyperplasia of juxtaglomerular apparatus

Micro images
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Neonatal variant

Electron microscopy description
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● Epithelioid cells associated with afferent and sometimes efferent arterioles, with prominent Golgi complexes and secretory granules and some rhomboidal
● Also immature glomeruli in children, nephrocalcinosis

Differential diagnosis
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● High dose loop diuretics
● Conditions causing severe GI potassium chloride loss (have low chloride levels)
● Cystinosis: Ren Fail 2010;32:277

End of Kidney non-tumor > Hereditary renal disease > Bartter’s syndrome

Ref Updated: 6/5/12


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