CD46 Deficiency Complicated by Coronary Artery Aneurysm: A Case Report CD46 Deficiency in Coronary Artery Aneurysm
Journal of Pediatric Nephrology,
Vol. 13 (2025),
12 May 2026
https://doi.org/10.22037/jpn.v13i1.51227
Abstract
Background and Aim: Membrane attack complex deficiency accounts for 10-15% of cases
of complement dysregulation-associated hemolytic uremic syndrome (HUS).
Case Presentation: We report a case involving a 7-year-old girl who presented with HUS.
Assessment of the complement pathway revealed persistently low levels of CD46. Initially,
she required kidney replacement therapy, but following partial recovery of renal function, she
was able to discontinue therapy for several years. During this period, she was admitted multiple
times for pneumonia, hypertensive crises, and relapses of her underlying condition, which
were managed accordingly. Whole-exome sequencing revealed a mutation in the membrane
cofactor protein (MCP; CD46). At the age of 12.5 years, she was readmitted with fever and
dyspnea, during which a coronary artery aneurysm was detected via echocardiography.
Treatment with intravenous immunoglobulin, corticosteroids, and aspirin was initiated
to prevent thrombosis. Unfortunately, she passed away after three years of irregular and
inconsistent follow-up. To the best of our knowledge, the occurrence of a coronary artery
aneurysm has not been previously reported in association with CD46 deficiency.
Conclusion: In conclusion, the integration of cardiac markers and echocardiography into the
routine assessment of patients with cHUS is essential for monitoring potential cardiovascular
complications.
- Coronary aneurysm
- Membrane cofactor protein (MCP)
- Atypical hemolytic uremic syndrome (HUS)
How to Cite
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