Bartter syndrome differential diagnosis: Difference between revisions

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==Overview==
==Overview==
==Differentiating Bartter syndrome from other Diseases==
==Differentiating Bartter syndrome from other Diseases==
Bartter and [[Gitelman syndrome]]s are both characterized by hypokalemia, normal to low blood pressure, and hypochloremic metabolic alkalosis.<ref>{{cite journal | author=Gitelman HJ, Graham JB, Welt LG | title=A new familial disorder characterized by hypokalemia and hypomagnesemia | journal=Trans Assoc Am Physicians | year=1966 | pages=221-35 | volume=79  | id=PMID 5929460}} </ref>
Bartter syndrome diagnosis should be differentiated from other diseases manifesting with hypokalemia, normal to low blood pressure, and hypochloremic metabolic alkalosis.<ref>{{cite journal | author=Gitelman HJ, Graham JB, Welt LG | title=A new familial disorder characterized by hypokalemia and hypomagnesemia | journal=Trans Assoc Am Physicians | year=1966 | pages=221-35 | volume=79  | id=PMID 5929460}} </ref>
{| style="border: 0px; font-size: 90%; margin: 3px;" align=center
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! style="background: #4479BA; width: 120px;" | {{fontcolor|#FFF|Disease}}
! style="background: #4479BA; width: 550px;" | {{fontcolor|#FFF|Findings}}
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| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Gitelman syndrome]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*Patients present with [[dyspnea]] and [[fatigability]] as a consequence of reduced cardiac reserve in the fourth or fifth decade<ref name="GoldschlagerPfeifer1973">{{citejournal|last1=Goldschlager|first1=Nora|last2=Pfeifer|first2=James|last3=Cohn|first3=Keith|last4=Popper|first4=Robert|last5=Selzer|first5=Arthur|title=The natural history of aortic regurgitation|journal=The American Journal of Medicine|volume=54|issue=5|year=1973|pages=577–588|issn=00029343|doi=10.1016/0002-9343(73)90115-0}}</ref>
*[[AR]] [[murmur]] is heard over left sternal border or over the right second [[intercostal space]] and radiates to the neck
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Diuretic abuse'''
| 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>
|-
| style="padding: 5px 5px; background: #DCDCDC;" |'''Cyclical vomiting'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*Usually seen in children with [[acyanotic congenital disease]] such as [[ASD]]
*Fixed splitting of [[S2]] is present
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Hyperprostaglandin E syndrome'''
| 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]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Familial hypomagnesemia with hypercalciuria/nephrocalcinosis'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Cystic fibrosis'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Mineralocorticoid excess'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Activating mutations of the CaSR calcium-sensing receptor'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Hypomagnesemia'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Hypomagnesemia'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Hypomagnesemia'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Hypomagnesemia'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*
*
|}
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 07:03, 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
  • Patients present with dyspnea and fatigability as a consequence of reduced cardiac reserve in the fourth or fifth decade[2]
  • AR murmur is heard over left sternal border or over the right second intercostal space and radiates to the neck
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
Hypomagnesemia
Hypomagnesemia
Hypomagnesemia

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. ↑ Template:Citejournal
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.


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