Bartter syndrome differential diagnosis: Difference between revisions
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| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Gitelman syndrome]]''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Gitelman syndrome]]''' | ||
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* | *Hypocalciuria (low urinary calcium) is a distinct feature and interstitial nephritis may develop because of the persistent hypokalemia. | ||
*Adults can present with chondrocalcinosis with swollen and warm joints with overlying tenderness. Sudden cardiac arrest has been reported occasionally.<ref name="pmid17390745">{{cite journal| author=Scognamiglio R, Negut C, Calò LA| title=Aborted sudden cardiac death in two patients with Bartter's/Gitelman's syndromes. | journal=Clin Nephrol | year= 2007 | volume= 67 | issue= 3 | pages= 193-7 | pmid=17390745 | doi=10.5414/cnp67193 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17390745 }} </ref> | |||
*Growth retardation is absent in Gitelman syndrome.<ref name="pmid21631963">{{cite journal| author=Urbanová M, Reiterová J, Stěkrová J, Lněnička P, Ryšavá R| title=DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening. | journal=Folia Biol (Praha) | year= 2011 | volume= 57 | issue= 2 | pages= 65-73 | pmid=21631963 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21631963 }} </ref> | |||
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| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Diuretic|Diuretic abuse]]''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Diuretic|Diuretic abuse]]''' |
Revision as of 07:33, 31 July 2020
Bartter syndrome Microchapters |
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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, normal to low blood pressure, and hypochloremic metabolic alkalosis.[1]
Disease | Findings |
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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 |
|
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.
- ↑ Sepulveda, G.; Lukas, D. S. (1955). "The Diagnosis of Tricuspid Insufficiency: Clinical Features in 60 Cases with Associated Mitral Valve Disease". Circulation. 11 (4): 552–563. doi:10.1161/01.CIR.11.4.552. ISSN 0009-7322.
- ↑ Zoghbi, W (2003). "Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and doppler echocardiography". Journal of the American Society of Echocardiography. 16 (7): 777–802. doi:10.1016/S0894-7317(03)00335-3. ISSN 0894-7317.
- ↑ Graziosi M, Rapezzi C (2016). "Right ventricular arrhythmogenic cardiomyopathy: genetic and MR for modern clinical diagnosis". J Cardiovasc Med (Hagerstown). doi:10.2459/JCM.0000000000000470. PMID 27828830.