Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
권호 표지
DOI QR코드

DOI QR Code

Two Cases of C1q Nephropathy in Siblings

남매에서 발생한 C1q 신증 2례

  • Kim, Su-Young (Department of Pediatrics, Pusan National University Children's Hospital) ;
  • Kim, Seong-Heon (Department of Pediatrics, Pusan National University Children's Hospital) ;
  • Moon, Kyung-Chul (Department of Pathology, SeoulNational University College of Medicine) ;
  • Shin, Jae-Il (The Institute of Kidney disease, Pediatrics, Yonsei University Severance Children's Hospital) ;
  • Jeong, Hyen-Joo (The Institute of Kidney Disease, Pathology, Yonsei University College of Medicine)
  • 김수영 (부산대학교 어린이병원 소아청소년과) ;
  • 김성헌 (부산대학교 어린이병원 소아청소년과) ;
  • 문경철 (서울대학교 의과대학 병리학교실) ;
  • 신재일 (연세대학교 세브란스 어린이 병원 소아과) ;
  • 정현주 (연세대학교 의과대학 신장연구소 병리학교실)
  • Received : 2011.07.11
  • Accepted : 2011.08.31
  • Published : 2012.04.30
Download PDF
⟨ Previous Next ⟩

Abstract

C1q nephropathy is a distinct clinicopathologic entity, characterized by mesangial immunoglobulin and complement deposits, predominantly C1q, with no evidence for systemic lupus erythematosus. Clinically it may present as nephrotic syndrome and non-nephrotic proteinuria per se or associated with microscopic hematuria, gross hematuria, hypertension, or renal insufficiency. So far there is only one report about a familial case of C1q nephropathy (in two sisters). We present two cases of familial C1q nephropathy with nephrotic syndrome which was steroid resistant, but partially remitted with cyclosporine.

C1q 신병증은 1985년 Jennett와 Hipp에 의해 발표된 이래 어린 영아에서부터 청 장년층에 까지 발표되어 왔으나 아직 임상병리학적으로 논란이 많은 질환이다. 저자들은 어린 남매에서 스테로이드 저항성의 콩팥증후군의 임상 양상을 보이며 병리 조직학적으로 국소분절사구체경화증과 메산지움에 C1q의 현저한 침착을 보인, C1q 신증을 발표하는 바이다.

Keywords

References

  1. Kari J, Jalalah S. C1q nephropath in two young sisters. Pediatr Nephrol 2008;23:487-90. https://doi.org/10.1007/s00467-007-0644-6
  2. Wenderfer S, Swinford R, Braun M. C1q nephropathy in the pediatric population: pathology and pathogenesis. Pediatr Nephrol 2010;25:1385-96. https://doi.org/10.1007/s00467-009-1429-x
  3. Jennette J, Hipp C. C1q nephropathy: a distinct pathologic entity usually causing nephrotic syndrome. Am J Kidney Dis 1985;6:103-10.
  4. Levart T, Kenda R, Cavic M, Ferluga D, Hvala A, Vizjak A. C1q nephropathy in children. Pediatr Nephrol 2005;20:1756-61. https://doi.org/10.1007/s00467-005-2040-4
  5. Mii A, Shimizu A, Masuda Y, Fujita E, Aki K, Ishizaki M, et al. Current status and issues of C1q nephropathy. Clin Exp Nephrol 2009;13:263-74. https://doi.org/10.1007/s10157-009-0159-5
  6. Skok J, Solomon E, Reid K, Thomson R. Distinct genes for fibroblast and serum C1q. Nature 1981;292:549-51. https://doi.org/10.1038/292549a0
  7. Thompson R, Haeney M, Reid K, Davies J, White R, Cameron A. A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis. N Engl J Med 1980;303:22-4. https://doi.org/10.1056/NEJM198007033030107
  8. Miura-Shimura Y, Nakamura K, Ohtsuji M, Tomita H, Jiang Y, Abe M, et al. C1q regulatory region polymorphysm down- regulating murine c1q protein levels with linkage to lupus nephritis. J Immunol 2002;169:1334-9.
  9. Hannema A, Kluin-Nelemans J, Hack C, Eerenberg-Belmer A, Mallee C, van Helden H. SLE like syndrome and functional deficiency of C1q in members of large family. Clin Exp Immunol 1984;55:106-14.
  10. Fukuma Y, Hisano S, Segawa Y, Niimi K, Tsuru N, Kaku Y. Clinicopathologic correlation of C1q Nephropathy in children. Am J Kidney Dis 2006;47:412-8. https://doi.org/10.1053/j.ajkd.2005.11.013
  11. Kuwano M, Ito Y, Amamoto Y, Aida K. A case of congenital nephrotic syndrome associated with positive C1q immunofluorescence. Pediatric Nephrol 1993;7:452-4. https://doi.org/10.1007/BF00857571
  12. Srivastava T, Chadha V, Taboada E, Alon U. C1q nephropathy presenting as rapidly progressive crescentic glomerulonephritis. Pediatr Nephrol 2000;14:976-9. https://doi.org/10.1007/s004670050056
  13. Bhowmik D, Jain S, Dinda A, Sharma A, Mahajan S, Agarwal S. C1q nephropathy presenting as nephritic-nephrotic syndrome. Saudi J Kidney Dis Transpl 2011;22:324-6.
  14. Lau K, Gaber L, Delos Santos N, Wyatt R. C1q nephropathy: features at presentatation and outcome. Pediatr Nephrol 2005;20:744-9. https://doi.org/10.1007/s00467-004-1810-8
  15. Sinha A, Nast C, Hristea I, Vo A, Jordan S. Resolution of clinical and pathologic features of C1q nephropathy after rituximab therapy. Clin Exp Nephrol 2011;15:164-70. https://doi.org/10.1007/s10157-010-0377-x