Bartter syndrome pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
==Pathophysiology== | ==Pathophysiology== | ||
*The thick ascending limb of the loop of Henle is not permeable to water and reabsorbs a large proportion of the filtered sodium chloride, which leads to interstitial hypertonicity that powers the countercurrent exchange and urinary concentration mechanisms. In case of impairment of this function, a major loss of water and sodium occurs, as seen with loop diuretics.<ref name="pmid21503667">{{cite journal| author=Seyberth HW, Schlingmann KP| title=Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. | journal=Pediatr Nephrol | year= 2011 | volume= 26 | issue= 10 | pages= 1789-802 | pmid=21503667 | doi=10.1007/s00467-011-1871-4 | pmc=3163795 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21503667 }} </ref> | *The thick ascending limb of the loop of Henle is not permeable to water and reabsorbs a large proportion of the filtered sodium chloride as shown in figure, which leads to interstitial hypertonicity that powers the countercurrent exchange and urinary concentration mechanisms. In case of impairment of this function, a major loss of water and sodium occurs, as seen with loop diuretics.<ref name="pmid21503667">{{cite journal| author=Seyberth HW, Schlingmann KP| title=Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. | journal=Pediatr Nephrol | year= 2011 | volume= 26 | issue= 10 | pages= 1789-802 | pmid=21503667 | doi=10.1007/s00467-011-1871-4 | pmc=3163795 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21503667 }} </ref> | ||
*Bartter syndrome is a renal tubular salt-wasting disorder in which the kidneys cannot reabsorb sodium and chloride in the thick ascending limb of the loop of Henle. | *Bartter syndrome is a renal tubular salt-wasting disorder in which the kidneys cannot reabsorb sodium and chloride in the thick ascending limb of the loop of Henle. | ||
*Impairment of sodium and chloride reabsorption is the primary defect in the Bartter syndrome that initiates the cascade. | *Impairment of sodium and chloride reabsorption is the primary defect in the Bartter syndrome that initiates the cascade. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]
Overview
Pathophysiology
- The thick ascending limb of the loop of Henle is not permeable to water and reabsorbs a large proportion of the filtered sodium chloride as shown in figure, which leads to interstitial hypertonicity that powers the countercurrent exchange and urinary concentration mechanisms. In case of impairment of this function, a major loss of water and sodium occurs, as seen with loop diuretics.[1]
- Bartter syndrome is a renal tubular salt-wasting disorder in which the kidneys cannot reabsorb sodium and chloride in the thick ascending limb of the loop of Henle.
- Impairment of sodium and chloride reabsorption is the primary defect in the Bartter syndrome that initiates the cascade.
- This leads to increased delivery of salt to the distal tubules and excessive salt and water loss from the body. The resultant volume depletion causes activation of the renin-angiotensin-aldosterone system (RAAS) and subsequent secondary hyperaldosteronism. Long-term stimulation causes hyperplasia of the juxtaglomerular apparatus and elevates renin levels.[2][3]
- Excessive distal delivery of sodium follows by sodium (Na) reabsorption in the distal convoluted tubule. Na reabsorption exchange with the secretion of positively charged potassium or hydrogen ion and leads to increased loss of potassium (K+) in urine and increased hydrogen (H+) secretion.
- Decreased chloride (Cl-) reabsorption decreases the exchange with bicarbonate (HCO3-). Thus, increased bicarbonate retention and hypokalemia result in metabolic alkalosis.[4]
References
- ↑ Seyberth HW, Schlingmann KP (2011). "Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects". Pediatr Nephrol. 26 (10): 1789–802. doi:10.1007/s00467-011-1871-4. PMC 3163795. PMID 21503667.
- ↑ Deschênes G, Fila M (2011). "Primary molecular disorders and secondary biological adaptations in bartter syndrome". Int J Nephrol. 2011: 396209. doi:10.4061/2011/396209. PMC 3177086. PMID 21941653.
- ↑ BARTTER FC, PRONOVE P, GILL JR, MACCARDLE RC (1962). "Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome". Am J Med. 33: 811–28. doi:10.1016/0002-9343(62)90214-0. PMID 13969763.
- ↑ Soylu Ustkoyuncu P, Nalcacioglu H, Bastug F, Yel S, Altuner Torun Y (2019). "Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome". Iran J Kidney Dis. 13 (1): 71–72. PMID 30851722.