Bartter syndrome differential diagnosis: Difference between revisions
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| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Cystic fibrosis]]''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Cystic fibrosis]]''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Patients with cystic fibrosis lose salt-rich sweat. | *Patients with [[cystic fibrosis]] lose salt-rich sweat. | ||
*Patients with moderate cystic fibrosis manifest with unexplained hypokalemia and metabolic alkalosis.<ref name="pmid17323076">{{cite journal| author=Kose M, Pekcan S, Ozcelik U, Cobanoglu N, Yalcin E, Dogru D | display-authors=etal| title=An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients. | journal=Eur J Pediatr | year= 2008 | volume= 167 | issue= 1 | pages= 115-6 | pmid=17323076 | doi=10.1007/s00431-007-0413-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17323076 }} </ref><ref name="pmid2386386">{{cite journal| author=Kennedy JD, Dinwiddie R, Daman-Willems C, Dillon MJ, Matthew DJ| title=Pseudo-Bartter's syndrome in cystic fibrosis. | journal=Arch Dis Child | year= 1990 | volume= 65 | issue= 7 | pages= 786-7 | pmid=2386386 | doi=10.1136/adc.65.7.786 | pmc=1792454 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2386386 }} </ref><ref name="pmid9048354">{{cite journal| author=Bates CM, Baum M, Quigley R| title=Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent. | journal=J Am Soc Nephrol | year= 1997 | volume= 8 | issue= 2 | pages= 352-5 | pmid=9048354 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9048354 }} </ref> | *Patients with moderate [[cystic fibrosis]] manifest with unexplained [[hypokalemia]] and [[metabolic alkalosis]].<ref name="pmid17323076">{{cite journal| author=Kose M, Pekcan S, Ozcelik U, Cobanoglu N, Yalcin E, Dogru D | display-authors=etal| title=An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients. | journal=Eur J Pediatr | year= 2008 | volume= 167 | issue= 1 | pages= 115-6 | pmid=17323076 | doi=10.1007/s00431-007-0413-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17323076 }} </ref><ref name="pmid2386386">{{cite journal| author=Kennedy JD, Dinwiddie R, Daman-Willems C, Dillon MJ, Matthew DJ| title=Pseudo-Bartter's syndrome in cystic fibrosis. | journal=Arch Dis Child | year= 1990 | volume= 65 | issue= 7 | pages= 786-7 | pmid=2386386 | doi=10.1136/adc.65.7.786 | pmc=1792454 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2386386 }} </ref><ref name="pmid9048354">{{cite journal| author=Bates CM, Baum M, Quigley R| title=Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent. | journal=J Am Soc Nephrol | year= 1997 | volume= 8 | issue= 2 | pages= 352-5 | pmid=9048354 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9048354 }} </ref> | ||
*In contrast to Bartter syndrome, spot urine chloride concentration is low in cystic fibrosis indicating chloride conservation in response to volume contraction.<ref name="pmid15754262">{{cite journal| author=Davé S, Honney S, Raymond J, Flume PA| title=An unusual presentation of cystic fibrosis in an adult. | journal=Am J Kidney Dis | year= 2005 | volume= 45 | issue= 3 | pages= e41-4 | pmid=15754262 | doi=10.1053/j.ajkd.2004.11.009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15754262 }} </ref><ref name="pmid7543567">{{cite journal| author=Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L | display-authors=etal| title=A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. | journal=J Pediatr | year= 1995 | volume= 127 | issue= 2 | pages= 281-3 | pmid=7543567 | doi=10.1016/s0022-3476(95)70310-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7543567 }} </ref> | *In contrast to [[Bartter syndrome]], spot urine [[chloride]] concentration is low in [[cystic fibrosis]] indicating [[chloride]] conservation in response to volume contraction.<ref name="pmid15754262">{{cite journal| author=Davé S, Honney S, Raymond J, Flume PA| title=An unusual presentation of cystic fibrosis in an adult. | journal=Am J Kidney Dis | year= 2005 | volume= 45 | issue= 3 | pages= e41-4 | pmid=15754262 | doi=10.1053/j.ajkd.2004.11.009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15754262 }} </ref><ref name="pmid7543567">{{cite journal| author=Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L | display-authors=etal| title=A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. | journal=J Pediatr | year= 1995 | volume= 127 | issue= 2 | pages= 281-3 | pmid=7543567 | doi=10.1016/s0022-3476(95)70310-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7543567 }} </ref> | ||
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| style="padding: 5px 5px; background: #DCDCDC;" | '''Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy''' | ||
Revision as of 11:54, 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 |
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| Diuretic abuse |
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| Cyclical vomiting |
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| Hyperprostaglandin E syndrome |
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| Familial hypomagnesemia with hypercalciuria/nephrocalcinosis |
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| Cystic fibrosis |
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| Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy |
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| Mineralocorticoid excess |
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| Activating mutations of the CaSR calcium-sensing receptor |
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| Hypomagnesemia |
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| Congenital chloride diarrhea |
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| Hypochloremic alkalosis |
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| Hypokalemia |
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References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.