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Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience
Ferah Genel1, Semiha Bahceci Erdem, Nesrin Gülez
1Dr BehcetUz Children's Hospital, Pediatric Allergy and Immunology, Izmir, Istanbul, Turkey.
Iranian Journal of Immunology : IJI
|December 30, 2018
Summary
Primary complement deficiencies are rare but serious. Early diagnosis and management, including vaccines and antibiotics, can prevent severe infections and other life-threatening complications in affected children.
Area of Science:
- Immunology
- Rare Diseases
- Pediatrics
Background:
- Primary complement deficiencies are rare genetic disorders.
- These deficiencies can lead to severe health complications.
- Increased awareness among pediatricians is crucial for early detection.
Purpose of the Study:
- To retrospectively analyze clinical and laboratory findings of complement deficiencies in children.
- To highlight the spectrum of clinical presentations and complications.
- To emphasize the importance of early diagnosis and management.
Main Methods:
- Retrospective analysis of 21 pediatric patients diagnosed with complement deficiency (2003-2017).
- Evaluation of clinical and immunological characteristics from patient records.
- Review of diagnosed deficiencies including C1 inhibitor, factor I, properdin, C8, C1q, and C4B.
Main Results:
- The study included 10 types of complement deficiencies, with C1 inhibitor deficiency being the most common.
- Infections were the primary presentation in most patients (C1q, factor I, properdin, C8, C4B deficiencies).
- Complications included vasculitic rash and immune complex glomerulonephritis in factor I deficiency.
Conclusions:
- Early diagnosis of complement deficiencies is vital for preventing severe bacterial infections.
- Prophylactic antibiotics and vaccinations are essential management strategies.
- Timely diagnosis and treatment of C1 inhibitor deficiency can prevent life-threatening attacks like upper airway obstruction.
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