Bartter syndrome differential diagnosis: Difference between revisions

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| style="padding: 5px 5px; background: #DCDCDC;" | '''Congenital chloride diarrhea'''
| style="padding: 5px 5px; background: #DCDCDC;" | '''Congenital chloride diarrhea'''
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*Early diagnosis is a prerequisite for congenital chloride diarrhea in a newborn. It is a medical emergency that leads to severe dehydration and infant death.<ref name="pmid19912155">{{cite journal| author=Wedenoja S, Höglund P, Holmberg C| title=Review article: the clinical management of congenital chloride diarrhoea. | journal=Aliment Pharmacol Ther | year= 2010 | volume= 31 | issue= 4 | pages= 477-85 | pmid=19912155 | doi=10.1111/j.1365-2036.2009.04197.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19912155  }} </ref>
*Early diagnosis is a prerequisite for [[Diarrhea|congenital chloride diarrhea]] in a newborn. It is a medical emergency that leads to severe [[dehydration]] and infant death.<ref name="pmid19912155">{{cite journal| author=Wedenoja S, Höglund P, Holmberg C| title=Review article: the clinical management of congenital chloride diarrhoea. | journal=Aliment Pharmacol Ther | year= 2010 | volume= 31 | issue= 4 | pages= 477-85 | pmid=19912155 | doi=10.1111/j.1365-2036.2009.04197.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19912155  }} </ref>
*This disorder is due to a mutation in a gene that encodes an exchange protein, expressed in the ileum and colon, which works as a channel to absorbs chloride from the intestinal lumen and secretes bicarbonate.
*This disorder is due to a [[mutation]] in a gene that encodes an exchange protein, expressed in the [[ileum]] and [[colon]], which works as a channel to absorbs [[chloride]] from the intestinal lumen and secretes [[bicarbonate]].
*Mutation impairs the function of the chloride-bicarbonate channel and results in very high stool chloride concentrations (>100 mEq/L). In contrast to Bartter Syndrome, the urinary chloride measurement is less than 20 mEq/L.<ref name="pmid14259421">{{cite journal| author=EVANSON JM, STANBURY SW| title=CONGENITAL CHLORIDORRHOEA OR SO-CALLED CONGENITAL ALKALOSIS WITH DIARRHOEA. | journal=Gut | year= 1965 | volume= 6 | issue=  | pages= 29-38 | pmid=14259421 | doi=10.1136/gut.6.1.29 | pmc=1552247 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14259421  }} </ref>
*[[Mutation]] impairs the function of the [[chloride-bicarbonate channel]] and results in very high stool [[chloride]] concentrations (>100 mEq/L). In contrast to [[Bartter Syndrome]], the urinary [[chloride]] measurement is less than 20 mEq/L.<ref name="pmid14259421">{{cite journal| author=EVANSON JM, STANBURY SW| title=CONGENITAL CHLORIDORRHOEA OR SO-CALLED CONGENITAL ALKALOSIS WITH DIARRHOEA. | journal=Gut | year= 1965 | volume= 6 | issue=  | pages= 29-38 | pmid=14259421 | doi=10.1136/gut.6.1.29 | pmc=1552247 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14259421  }} </ref>
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| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Hypochloremia|Hypochloremic alkalosis]]'''
| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Hypochloremia|Hypochloremic alkalosis]]'''

Revision as of 16:36, 31 July 2020

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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

Differentiating Bartter syndrome from other Diseases

Bartter syndrome diagnosis should be differentiated from other diseases manifesting with hypokalemia and hypochloremic metabolic alkalosis.[1]

Disease Findings
Gitelman syndrome
Diuretic abuse
Cyclical vomiting
Hyperprostaglandin E syndrome
Familial hypomagnesemia with hypercalciuria/nephrocalcinosis
Cystic fibrosis
Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy
Mineralocorticoid excess
Activating mutations of the CaSR calcium-sensing receptor
Hypomagnesemia
Congenital chloride diarrhea
Hypochloremic alkalosis
Hypokalemia

References

  1. Gitelman HJ, Graham JB, Welt LG (1966). "A new familial disorder characterized by hypokalemia and hypomagnesemia". Trans Assoc Am Physicians. 79: 221–35. PMID 5929460.
  2. Scognamiglio R, Negut C, Calò LA (2007). "Aborted sudden cardiac death in two patients with Bartter's/Gitelman's syndromes". Clin Nephrol. 67 (3): 193–7. doi:10.5414/cnp67193. PMID 17390745.
  3. Urbanová M, Reiterová J, Stěkrová J, Lněnička P, Ryšavá R (2011). "DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening". Folia Biol (Praha). 57 (2): 65–73. PMID 21631963.
  4. Jamison RL, Ross JC, Kempson RL, Sufit CR, Parker TE (1982). "Surreptitious diuretic ingestion and pseudo-Bartter's syndrome". Am J Med. 73 (1): 142–7. doi:10.1016/0002-9343(82)90941-x. PMID 7091169.
  5. Colussi G, Rombolà G, Airaghi C, De Ferrari ME, Minetti L (1992). "Pseudo-Bartter's syndrome from surreptitious diuretic intake: differential diagnosis with true Bartter's syndrome". Nephrol Dial Transplant. 7 (9): 896–901. doi:10.1093/ndt/7.9.896. PMID 1328936.
  6. Sasaki H, Kawasaki T, Yamamoto T, Ninomiya H, Ono J, Yamamoto T; et al. (1986). "[Pseudo-Bartter's syndrome induced by surreptitious ingestion of furosemide to lose weight: a case report and possible pathophysiology]". Nihon Naibunpi Gakkai Zasshi. 62 (8): 867–81. doi:10.1507/endocrine1927.62.8_867. PMID 3023152.
  7. D'Avanzo M, Santinelli R, Tolone C, Bettinelli A, Bianchetti MG (1995). "Concealed administration of frusemide simulating Bartter syndrome in a 4.5-year-old boy". Pediatr Nephrol. 9 (6): 749–50. doi:10.1007/BF00868731. PMID 8747119.
  8. Veldhuis JD, Bardin CW, Demers LM (1979). "Metabolic mimicry of Bartter's syndrome by covert vomiting: utility of urinary chloride determinations". Am J Med. 66 (2): 361–3. doi:10.1016/0002-9343(79)90566-7. PMID 425977.
  9. Cetinkaya M, Köksal N, Ozkan H, Dönmez O, Sağlam H, Kiriştioğlu I (2008). "Hyperprostaglandin E syndrome: use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis". Turk J Pediatr. 50 (4): 386–90. PMID 19014056.
  10. Kose M, Pekcan S, Ozcelik U, Cobanoglu N, Yalcin E, Dogru D; et al. (2008). "An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients". Eur J Pediatr. 167 (1): 115–6. doi:10.1007/s00431-007-0413-3. PMID 17323076.
  11. Kennedy JD, Dinwiddie R, Daman-Willems C, Dillon MJ, Matthew DJ (1990). "Pseudo-Bartter's syndrome in cystic fibrosis". Arch Dis Child. 65 (7): 786–7. doi:10.1136/adc.65.7.786. PMC 1792454. PMID 2386386.
  12. Bates CM, Baum M, Quigley R (1997). "Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent". J Am Soc Nephrol. 8 (2): 352–5. PMID 9048354.
  13. Davé S, Honney S, Raymond J, Flume PA (2005). "An unusual presentation of cystic fibrosis in an adult". Am J Kidney Dis. 45 (3): e41–4. doi:10.1053/j.ajkd.2004.11.009. PMID 15754262.
  14. Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L; et al. (1995). "A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration". J Pediatr. 127 (2): 281–3. doi:10.1016/s0022-3476(95)70310-1. PMID 7543567.
  15. Morineau G, Sulmont V, Salomon R, Fiquet-Kempf B, Jeunemaître X, Nicod J; et al. (2006). "Apparent mineralocorticoid excess: report of six new cases and extensive personal experience". J Am Soc Nephrol. 17 (11): 3176–84. doi:10.1681/ASN.2006060570. PMID 17035606.
  16. Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS; et al. (1998). "Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess". J Clin Endocrinol Metab. 83 (7): 2244–54. doi:10.1210/jcem.83.7.4986. PMID 9661590.
  17. Bockenhauer D, van't Hoff W, Dattani M, Lehnhardt A, Subtirelu M, Hildebrandt F; et al. (2010). "Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases". Nephron Physiol. 116 (4): p23–9. doi:10.1159/000320117. PMC 3896046. PMID 20733335.
  18. Tong GM, Rude RK (2005). "Magnesium deficiency in critical illness". J Intensive Care Med. 20 (1): 3–17. doi:10.1177/0885066604271539. PMID 15665255.
  19. Wong ET, Rude RK, Singer FR, Shaw ST (1983). "A high prevalence of [[hypomagnesemia]] and [[hypermagnesemia]] in hospitalized patients". Am J Clin Pathol. 79 (3): 348–52. doi:10.1093/ajcp/79.3.348. PMID 6829504. URL–wikilink conflict (help)
  20. Wedenoja S, Höglund P, Holmberg C (2010). "Review article: the clinical management of congenital chloride diarrhoea". Aliment Pharmacol Ther. 31 (4): 477–85. doi:10.1111/j.1365-2036.2009.04197.x. PMID 19912155.
  21. EVANSON JM, STANBURY SW (1965). "CONGENITAL CHLORIDORRHOEA OR SO-CALLED CONGENITAL ALKALOSIS WITH DIARRHOEA". Gut. 6: 29–38. doi:10.1136/gut.6.1.29. PMC 1552247. PMID 14259421.


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