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Kastamonu Medical Journal

Kastamonu Medical Journal regularly publishes internationally qualified issues in the field of Medicine in the light of up-to-date information.

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Case Report
Pediatric follow-up and treatment of a patient diagnosed with hereditary CD59 deficiency: a case presentation
Abstract
CD59 is a regulatory protein specifically required for the preservation of human neuronal tissue. It is encoded as autosomal recessive. It is expressed in a large number of different tissues, including hematopoietic cells, endothelial cells, neurons and neuroglia. Endothelial damage regulates the complement system by preventing the formation of the C5b-9 complex, which triggers cytotoxicity and neurodegeneration, and thus the membrane attack complex (MAC). Hereditary CD59 deficiency is a rare disease that occurs in childhood with recurrent hemolytic attacks and neurological symptoms (such as ataxia, stroke, epileptic seizures, speech disorder, loss of motor skills). The only known treatment for the disease for now is Eculizumab, a monoclonal antibody that acts by inhibiting the formation of MAC via the C5 complement. Therefore, it is very important that a patient diagnosed with CD59 deficiency receive appropriate doses and timely treatment of Eculizumab in order to avoid relieving serious neurological symptoms and to maintain daily life. In this study, it was aimed to clarify the follow-up clinical features of a patient diagnosed with hereditary CD59 deficiency and what needs to be considered in the treatment process.

Keywords : CD59, complement, Eculizumab

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1. Stahel P, Flierl M, Morgan BP, et al. Absence of the complement regulatory molecule CD59a leads to exacerbated neuropathology after traumatic brain injury in mice. J Neuroinflammation 2009;6:2.
2. van Beek J, van Meurs M, ’t Hart BA, et al. Decay-Accelerating Factor (CD55) Is Expressed by Neurons in Response to Chronic but Not Acute Autoimmune Central Nervous System Inflammation Associated with Complement Activation. J Immunol 2005; 174:2353-2365.
3. Ardicli D, Taskiran EZ, Kosukcu C,et al. Neonatal-onset recurrent Guillain-Barre syndrome-like disease: clues for inherited CD59 deficiency. Neuropediatrics.2017;48:477-481.
4. Lucas SM, Rothwell NJ, Gibson RM: The role of inflammation in CNS injury and disease. Br J Pharmacol 2006, 1(147 Suppl):232-40.
5. Leinhase I, Holers VM, Thurman JM, et al. Reduced neuronal cell death after experimental brain injury in mice lacking a functional alternative pathway of complement activation. BMC Neurosci 2006; 7:55.
6. Griffiths MR, Gasque P, Neal JW: The multiple roles of the innate immune system in the regulation of apoptosis and inflammation in the brain. J Neuropathol Exp Neurol 2009; 68:217-26.
7. Webber A, Hirose R, Vincenti F: Novel strategies in immunosuppression: Issues in perspective. Transplantation 2011;91:1057-1064.
8. Soliris® (eculizumab), Alexion Prescribing Information. (http:// alexionpharma. com/Documents/soliris_pi-4-2014.aspx)
9. Zaza G, Tomei P, Granata S, Boschiero L, Lupo A: Monoclonal antibody therapy and renal transplantation: Focus on adverse effects. Toxins (Basel) 2014;6:869-891.
10. Hadaya K, Ferrari-Lacraz S, Fumeaux D, et al. Eculizumab in acute recurrence of thrombotic microangiopathy after renal transplantation. Am J Transplant 2011;11:2523-2527.
11. Stegall MD, Diwan T, Raghavaiah S, et al. Terminal complement inhibition decreases antibody-mediated rejection in sensitized renal transplant recipients. Am J Transplant 2011;11:2405-2413.
12. Pittock SJ, Lennon VA, McKeon A, et al. Eculizumab in AQP4-IgG-positive relapsing neuromyelitis optica spectrum disorders: an open-label pilot study. Lancet Neurol 2013;12:554-62.
Article available in :
Volume 1, Issue 1, 2021
Page : 24-26
https://doi.org/10.51271/KMJ-0006
Article Information
Received : 21 Mar 2021
Accepted : 30 Mar 2021
Published : 29 Ara 2022
Corresponding Author :

Emrah Çığrı: Kastamonu Training and Research Hospital, Department of Child Health and Diseases, Kastamonu, Turkey

[email protected]
Citation : Çığrı E. Pediatric follow-up and treatment of a patient diagnosed with hereditary cd59 deficiency: a case presentation. Kastamonu Med J. 2021;1(1): 24-26.

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