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]]
|-
|-
| 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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