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The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)
B Kristiansson1, H Stibler, N Conradi
1Department of Pediatrics, Göteborg University, Sweden.
Insights
Children with carbohydrate-deficient glycoprotein syndrome type I (CDGS-I) often develop pericardial effusions. Abnormal glycoprotein levels in blood and pericardial fluid suggest a damaged pericardial protein barrier contributes to this condition.
Area of Science:
- Biochemistry
- Pediatrics
- Pathology
Background:
- Carbohydrate-deficient glycoprotein syndrome type I (CDGS-I) is a rare genetic disorder.
- Pericardial effusion, fluid accumulation around the heart, can occur in CDGS-I patients.
Purpose of the Study:
- To investigate the biochemical basis of pericardial effusions in CDGS-I.
- To explore the role of glycoproteins in the pathogenesis of pericardial effusion in CDGS-I.
Main Methods:
- Analysis of glycoprotein concentrations and isoforms in blood and pericardial fluid.
- Correlation analysis between protein concentration ratios, molecular mass, and sialic acid content.
- Histopathological examination of pericardial tissue.
Main Results:
- Pericardial effusions were observed in 60% of CDGS-I patients, with 30% requiring pericardectomy.
- Lower blood concentrations of glycoproteins and albumin were noted.
- Similar abnormal glycoprotein isoforms were present in both blood and pericardial fluid.
- A negative correlation between protein concentration ratio (pericardial fluid/blood) and molecular mass was found in CDGS-I patients.
Conclusions:
- A compromised pericardial protein barrier is implicated in the development of pericardial effusion in CDGS-I.
- Glycoprotein abnormalities contribute to fluid accumulation in the pericardium.
- Further research into the pericardial protein barrier in CDGS-I is warranted.
Abstract:
Pericardial effusions were found in 6 of 10 children with carbohydrate-deficient glycoprotein syndrome type I (CDGS-I). In three cases pericardectomy was necessary. Blood concentrations of several glycoproteins and albumin were low. Similar abnormal isoforms of four glycoproteins were found in blood (B) and pericardial fluid (PF). There was a significant negative correlation between the mean concentration ratio PF/B and the molecular mass (MW) of 11 proteins. For proteins with MW < 100 kDa there were significant correlations in the controls, but not in the patients, between the PF/B ratio and both the MW and the sialic acid contents in the (glyco-)proteins. The pericardium exhibited focal mixed inflammatory changes with mesothelial proliferation, with widened endoplasmic reticulum and flocculent and/or lamellated material. Damage to a pericardial protein barrier is suggested to be involved in pericardial effusion in CDGS-I.