A Child With CD46 Deficiency Complicated With Coronary Artery Aneurysm – A Case Report
Journal of Pediatric Nephrology,
Vol. 13 No. 1 (2025),
12 May 2026
https://doi.org/10.22037/jpn.v13i1.51227
Abstract
Membrane attack complex (MCP) deficiency drives 10-15% of complement dysregulation hemolytic uremic syndrome (cHUS). We report a seven-year-old girl presented hemolytic uremic syndrome. Complement pathway assessment showed persistently very low level of CD46. She was on kidney replacement therapy (KRT) for a while and because of partial recovery of kidney function, she was off for few years. She admitted several time for pneumonia, crisis of hypertension, and relapse that treated accordingly. The whole exome sequencing was in favor of Membrane cofactor protein (MCP; CD46) mutation. At age 12.5 years she admitted with fever and dyspnea. A coronary artery aneurysm detected by echocardiography. Intravenous immunoglobulin, steroid, and aspirin were given to prevent thrombosis. Afterward, she passed away after three -year irregular and inconsistent follow up. This complication has never reported in the literature.
- Hemolytic uremic syndrome
- Coronary Aneurysm
- Membrane Cofactor Protein
How to Cite
References
1. Fakhouri F, Zuber J, Frémeaux-Bacchi V, Loirat C. Haemolytic uraemic syndrome. The Lancet. 2017;390(10095):681-96.
2. Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaime F, Dragon-Durey M-A, Ngo S, et al. Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin J Am Soc Nephrol. 2013;8(4):554-62.
3. Noris M, Remuzzi G. Cardiovascular complications in atypical haemolytic uraemic syndrome. Nat Rev Nephrol. 2014;10(3):174-80.
4. Liszewski MK, Atkinson JP. Membrane cofactor protein (MCP; CD46): deficiency states and pathogen connections. Curr Opin Immunol. 2021;72:126-34.
5. Sallée M, Daniel L, Piercecchi M-D, Jaubert D, Fremeaux-Bacchi V, Berland Y, et al. Myocardial infarction is a complication of factor H-associated atypical HUS. Nephrol Dial Transplant. 2010;25(6):2028-32.
6. Rigamonti D, Simonetti GD. Direct cardiac involvement in childhood hemolytic-uremic syndrome: case report and review of the literature. Eur J Pediatr. 2016;175(12):1927-31.
7. Naour O, Drighil A, Idouz K, Nadifi S, Rochdi FE, Bouayed K, et al. Dilated cardiomyopathy: A rare and late complication of the hemolytic-uremic syndrome. J Cardiol Cases. 2019;20(4):125-8.
8. Alaei F. Dilated cardiomyopathy several months after hemolytic uremic syndrome. J Ped. Nephrol. 2016;4(1):45-48.
9. Bararu-Bojan I, Badulescu O-V, Badescu MC, Vladeanu MC, Plesoianu CE, Bojan A, et al. New insights into the pathophysiology of coronary artery aneurysms. Diagnostics. 2024;14(19):2167.
10. Oksjoki R, Kovanen PT, Meri S, Pentikainen MO. Function and regulation of the complement system in cardiovascular diseases. Front Biosci. 2007;12:4696-708.
11. Filip C, Nicolescu A, Cinteza E, Duica G, Nicolae G, Safta-Baschieru D, et al. Cardiovascular complications of hemolytic uremic syndrome in children. Maedica(Bucur). 2020;15(3):305-309.
12. Andersen RF, Bjerre J V, Povlsen JV, Veien M, Kamperis K, Rittig S. HUS-induced cardiac and circulatory failure is reversible using cardiopulmonary bypass as rescue. Pediatr Nephrol. 2017;32(11):2155-8.
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