Childhood Kidney Diseases

  • 제28권3호
  • /
  • Pages.124-130
  • /
  • 2024
  • /
  • 2384-0242(pISSN)
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  • 2384-0250(eISSN)
대한소아신장학회 (Korean Society of Pediatric Nephrology)
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C3 glomerulonephritis with genetically confirmed C3 deficiency in a pediatric patient: a case report

  • Hae Min Kim (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Jae Il Shin (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Ji Hong Kim (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Jiyoung Oh (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Ji-Man Kang (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Hee Gyung Kang (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Seong Heon Kim (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Byoung Soo Cho (Dr. Cho's Kidney Clinic) ;
  • Keum Hwa Lee (Department of Pediatrics, Yonsei University College of Medicine)
  • 투고 : 2024.09.13
  • 심사 : 2024.10.14
  • 발행 : 2024.10.31
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초록

Complement component 3 glomerulonephritis (C3GN) is a rare kidney disease characterized by complement dysregulation that results in prominent complement component 3 (C3) deposition in the kidneys. The clinical course of C3GN varies from mild hematuria to progressive chronic kidney disease. In most patients, C3GN is driven by acquired factors, namely, autoantibodies that target C3 or C5 convertases. Genetic variations in complement-related genes are less frequent. We report the case of a 9-year-old Korean boy who presented with microscopic hematuria and a persistently low C3 level and had biopsy findings of C3GN, with the presence of a C3 gene mutation: a frameshift mutation associated with C3 deficiency. However, the patient did not exhibit any other symptoms of complement deficiency. Direct DNA sequencing of his family members revealed the same genetic mutation in his father and older brother. This case report is significant because there are very few such reports worldwide concerning gene mutations related to C3 deficiency to be discovered in patients with C3GN. Explaining C3GN pathogenesis is challenging; therefore, additional research is required in the future.

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참고문헌

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