Bartter syndrome differential diagnosis: Difference between revisions

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| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Diuretic|Diuretic abuse]]'''
| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Diuretic|Diuretic abuse]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |  
| style="padding: 5px 5px; background: #F5F5F5;" |  
*[[Pansystolic murmur]] accentuating with inspiration<ref name="SepulvedaLukas1955">{{cite journal|last1=Sepulveda|first1=G.|last2=Lukas|first2=D. S.|title=The Diagnosis of Tricuspid Insufficiency: Clinical Features in 60 Cases with Associated Mitral Valve Disease|journal=Circulation|volume=11|issue=4|year=1955|pages=552–563|issn=0009-7322|doi=10.1161/01.CIR.11.4.552}}</ref>
*
*RV heave
*Gaint "V" wave seen on [[JVP]] examination
*[[Hepatomegaly]] is seen in 90% of patients
*Quantification of severity of [[TR]] is done by colour flow [[doppler]] imaging<ref name="Zoghbi2003">{{cite journal|last1=Zoghbi|first1=W|title=Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and doppler echocardiography|journal=Journal of the American Society of Echocardiography|volume=16|issue=7|year=2003|pages=777–802|issn=08947317|doi=10.1016/S0894-7317(03)00335-3}}</ref>
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| style="padding: 5px 5px; background: #DCDCDC;" |'''Cyclical vomiting'''
| style="padding: 5px 5px; background: #DCDCDC;" |'''Cyclical vomiting'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Usually seen in children with [[acyanotic congenital disease]] such as [[ASD]]
*
*Fixed splitting of [[S2]] is present
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| style="padding: 5px 5px; background: #DCDCDC;" | '''Hyperprostaglandin E syndrome'''
| style="padding: 5px 5px; background: #DCDCDC;" | '''Hyperprostaglandin E syndrome'''
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Gradual replacement of normal functional [[myocardium]] with [[adipose]] or fibroadipose tissue<ref name="pmid27828830">{{cite journal| author=Graziosi M, Rapezzi C| title=Right ventricular arrhythmogenic cardiomyopathy: genetic and MR for modern clinical diagnosis. | journal=J Cardiovasc Med (Hagerstown) | year= 2016 | volume=  | issue=  | pages=  | pmid=27828830 | doi=10.2459/JCM.0000000000000470 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27828830  }} </ref>
*
*Age of onset is 7 to 40years
*Patients are usually asymptomatic, present with occasional [[palpitations]]
*[[EKG]] shows negative "T" waves and epsilon waves with selective "S" wave delay in V1 to V3
*[[RV]] is dilated and hypokinetic on [[echocardiography]]
*[[Holter monitoring]] helps to diagnose hyperkinetic [[ventricular arrythmias]]
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| style="padding: 5px 5px; background: #DCDCDC;" | '''Familial hypomagnesemia with hypercalciuria/nephrocalcinosis'''
| style="padding: 5px 5px; background: #DCDCDC;" | '''Familial hypomagnesemia with hypercalciuria/nephrocalcinosis'''

Revision as of 07:35, 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, normal to low blood pressure, and hypochloremic metabolic alkalosis.[1]

Disease Findings
Gitelman syndrome
  • 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.[2]
  • Growth retardation is absent in Gitelman syndrome.[3]
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.


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