Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficiency?

被引:0
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作者
Rabia Miray Kisla Ekinci
İbrahim Altun
Atil Bisgin
Bahriye Atmis
Derya Ufuk Altintas
Sibel Balcı
机构
[1] Cukurova University,Department of Pediatric Rheumatology, Faculty of Medicine
[2] Cukurova University,Department of Pediatrics, Faculty of Medicine
[3] Cukurova University,Department of Medical Genetics, Faculty of Medicine
[4] Cukurova University,Department of Pediatric Nephrology, Faculty of Medicine
[5] Cukurova University,Department of Pediatric Allergy and Immunology, Faculty of Medicine
来源
CEN Case Reports | 2020年 / 9卷
关键词
C2 deficiency; C2 gene; Child; Macroscopic hematuria;
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学科分类号
摘要
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.
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页码:344 / 346
页数:2
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