Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficienc
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CASE REPORT
Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficiency? Rabia Miray Kisla Ekinci1 · İbrahim Altun2 · Atil Bisgin3 · Bahriye Atmis4 · Derya Ufuk Altintas5 · Sibel Balcı1 Received: 14 February 2020 / Accepted: 23 April 2020 © Japanese Society of Nephrology 2020
Abstract Hereditary C2 deficiency is the most common early complement deficiency and characterized by recurrent infections and autoimmunity despite most patients are also asymptomatic. Type I hereditary C2 deficiency is caused by a heterozygous deletion in C2 gene resulting in early stop codon and lack of C2 production. Clinical spectrum may vary and pure nephrological involvement without the presence of recurrent infections is scarce in hereditary C2 deficiency. We report here a previously healthy 14-year-old boy presenting recurrent self-limited macroscopic hematuria and persistently low serum C4 levels, diagnosed as having type I hereditary C2 deficiency with confirming a novel heterozygote deletion (c.1567 + 22_1567 + 43del) in C2 gene. He has been remained asymptomatic for the next 18 months. Since the diagnosis of C2 deficiency was made in the absence of organ-threatening involvement such as immune complex-mediated glomerulonephritis, we think that early diagnosis and optimal follow-up may improve life-span of the patients with hereditary early complement deficiencies. Keywords C2 deficiency · C2 gene · Child · Macroscopic hematuria
Introduction
* Rabia Miray Kisla Ekinci [email protected] Atil Bisgin [email protected] Bahriye Atmis [email protected] Derya Ufuk Altintas [email protected] Sibel Balcı [email protected] 1
Department of Pediatric Rheumatology, Faculty of Medicine, Cukurova University, Saricam, Adana 01331, Turkey
2
Department of Pediatrics, Faculty of Medicine, Cukurova University, Adana, Turkey
3
Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey
4
Department of Pediatric Nephrology, Faculty of Medicine, Cukurova University, Adana, Turkey
5
Department of Pediatric Allergy and Immunology, Faculty of Medicine, Cukurova University, Adana, Turkey
Complement system, as a bridge between innate and adaptive immunity, plays important roles such as opsonization and cleavage of the pathogenic microorganisms, immune complexes and apoptotic cellular debris. The complement system can be activated through three main pathways, including classical complement pathway via C1q, lectin pathway via Mannose-binding lectin (MBL)/ficolin and alternative pathway via factor B, factor D and properdin [1]. Classical complement pathway activation occurs in following order: C1q, C4 and C2, afterwards connects to the common pathway, including C3, C5 and membrane attack complex (C5–9). The hereditary deficiencies of the latter, late complement components are scarce and typically result in recurrent and devastating infections with encapsulated microorganisms, particularly Neisseria spp. Besides, deficiencies ea
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