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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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Understanding the variety of primary symptoms and systemic complications that characterize chronic obstructive pulmonary disease (COPD) is crucial for healthcare professionals.
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The obstructive siblings: Relapsing polychondritis without chondritis?

Haavard A Sæverud1, F Borchsenius1, H Mellem1

  • 1Dept. of Pulmonary Medicine, Oslo University Hospital, Ullevål, Kirkeveien 166, 0407 Oslo, Norway.

Respiratory Medicine Case Reports
|June 2, 2015
PubMed
Summary

Two siblings presented with severe central airway obstruction caused by diffuse inflammation. Their condition did not match any known disease criteria, highlighting a potential new or rare airway disorder.

Keywords:
ACE, angiotensin converting enzymeANA, anti-nuclear antibodyANCA, anti-neutrophil cytoplasmic antibodyCMV, cytomegalovirusCRP, C-reactive proteinCT, computer tomographyDLCO, diffusing capacity of the lung for carbon monoxideFEV1, forced expiratory volume in one secondFVC, forced vital capacityGP, general practitionerObstructionPolychondritisRF, rheumatoid factorRPC, relapsing polychondritisSiblingsTLC, total lung capacityWG, Wegener's granulomatosis

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Area of Science:

  • Pulmonology
  • Genetics
  • Rare Diseases

Background:

  • Progressive narrowing of central airways, often due to diffuse inflammation, is a critical condition.
  • Several diseases are known to cause this airway obstruction.
  • Identifying the underlying cause is crucial for effective treatment.

Purpose of the Study:

  • To present two siblings with severe central airway obstruction.
  • To highlight the diagnostic challenges when clinical presentation deviates from known disease patterns.
  • To suggest the possibility of an unidentified or rare etiology.

Main Methods:

  • Clinical case presentation of two affected siblings.
  • Detailed evaluation of airway obstruction symptoms and progression.
  • Comparison of clinical findings against established diagnostic criteria for airway diseases.

Main Results:

  • Both siblings exhibited severe central airway obstruction.
  • Despite thorough investigation, their clinical presentation did not align with any recognized disease entities.
  • The etiology of their condition remained undetermined based on current knowledge.

Conclusions:

  • The presented cases represent a severe form of central airway obstruction.
  • The inability to classify the condition suggests potential novel or extremely rare underlying causes.
  • Further research is needed to elucidate the pathophysiology and identify the specific disease.