Skip to main content
Erschienen in: Pediatric Nephrology 2/2006

01.02.2006 | Educational Feature

A case of atypical hemolytic uremic syndrome with a transient decrease in complement factor H

verfasst von: Hyewon Hahn, Eun Young Um, Young Seo Park, Hae Il Cheong

Erschienen in: Pediatric Nephrology | Ausgabe 2/2006

Einloggen, um Zugang zu erhalten

Abstract

We report a case of sporadic atypical hemolytic uremic syndrome (HUS) with a transient decrease in complement factor H. Referred for hemolysis and azotemia without diarrhea prodrome, this 31-month-old boy showed a decreased complement 3 (C3) and complement factor H (FH) level. However, the factor H gene (HF1) mutation was missing. After the hemolysis was controlled with plasma infusion, the C3 and FH levels recovered. The patient’s renal function fully recovered and remained normal, and there was no recurrence of the HUS.
Literatur
1.
Zurück zum Zitat Stewart CL, Leticia TU (1993) Hemolytic uremic syndrome. Pediatr Rev 14:218–225PubMed Stewart CL, Leticia TU (1993) Hemolytic uremic syndrome. Pediatr Rev 14:218–225PubMed
2.
Zurück zum Zitat Loirat C, Niaudet P (2003) The risk of recurrence of hemolytic uremic syndrome after renal transplantation in children. Pediatr Nephrol 18:1095–1110CrossRefPubMed Loirat C, Niaudet P (2003) The risk of recurrence of hemolytic uremic syndrome after renal transplantation in children. Pediatr Nephrol 18:1095–1110CrossRefPubMed
3.
Zurück zum Zitat Fitzpatrick MM, Walters MD, Trompeter RS, Dillon JM, Barratt TM (1993) Atypical (non-diarrhea-associated) hemolytic uremic syndrome in childhood. J Pediatr 122:532–537PubMed Fitzpatrick MM, Walters MD, Trompeter RS, Dillon JM, Barratt TM (1993) Atypical (non-diarrhea-associated) hemolytic uremic syndrome in childhood. J Pediatr 122:532–537PubMed
4.
5.
Zurück zum Zitat Landau D, Shalev H, Levy-Finer G, Polonsky A, Segev Y, Katchko L (2001) Familial hemolytic uremic syndrome associated with complement factor H deficiency. J Pediatr 138:412–417CrossRefPubMed Landau D, Shalev H, Levy-Finer G, Polonsky A, Segev Y, Katchko L (2001) Familial hemolytic uremic syndrome associated with complement factor H deficiency. J Pediatr 138:412–417CrossRefPubMed
6.
Zurück zum Zitat Ault BH (2000) Factor H and the pathogenesis of renal disease. Pediatr Nephrol 14:1045–1053CrossRefPubMed Ault BH (2000) Factor H and the pathogenesis of renal disease. Pediatr Nephrol 14:1045–1053CrossRefPubMed
7.
Zurück zum Zitat Warwicker P, Goodship THJ, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int 53:836–844CrossRefPubMed Warwicker P, Goodship THJ, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int 53:836–844CrossRefPubMed
8.
Zurück zum Zitat Caprioli J, Bettinaglio P, Zipfel PF, Amadei B, Daina E, Gamba S, Skerka C, Marziliano N, Remuzzi G, Noris M (2001) The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. J Am Soc Nephrol 12:297–307PubMed Caprioli J, Bettinaglio P, Zipfel PF, Amadei B, Daina E, Gamba S, Skerka C, Marziliano N, Remuzzi G, Noris M (2001) The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. J Am Soc Nephrol 12:297–307PubMed
9.
Zurück zum Zitat Neumann HPH, Salzmann M, Bohnert-Iwan B, Mannuelian T, Skerka C, Lenk D, Bender BU, Cybulla M, Riegler P, Königsrainer A, Neyer U, Bock A, Widmer U, Male DA, Franke G, Zipfel PF (2003) Hemolytic uremic syndrome and mutations of the factor H gene: a registry-based study of German-speaking countries. J Med Genet 40:676–681CrossRefPubMed Neumann HPH, Salzmann M, Bohnert-Iwan B, Mannuelian T, Skerka C, Lenk D, Bender BU, Cybulla M, Riegler P, Königsrainer A, Neyer U, Bock A, Widmer U, Male DA, Franke G, Zipfel PF (2003) Hemolytic uremic syndrome and mutations of the factor H gene: a registry-based study of German-speaking countries. J Med Genet 40:676–681CrossRefPubMed
10.
Zurück zum Zitat Goodship THJ, Liszewski MK, Kemp EJ, Richards A, Atkinson JP (2004) Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. Trends Mol Med 10:226–231CrossRefPubMed Goodship THJ, Liszewski MK, Kemp EJ, Richards A, Atkinson JP (2004) Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. Trends Mol Med 10:226–231CrossRefPubMed
11.
Zurück zum Zitat Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G (2003) Familial hemolytic uremic syndrome and an MCP mutation. Lancet 362:1542–1547CrossRefPubMed Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G (2003) Familial hemolytic uremic syndrome and an MCP mutation. Lancet 362:1542–1547CrossRefPubMed
12.
Zurück zum Zitat Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Muslumanoglu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH (2003) Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci USA 100:12966–12971CrossRefPubMed Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Muslumanoglu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH (2003) Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci USA 100:12966–12971CrossRefPubMed
13.
Zurück zum Zitat Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C, Deng HW, Goodship THJ (2005) The development of atypical HUS is influenced by susceptibility factors in factor H and membrane cofactor protein-evidence from two independent cohorts. J Med Genet Epub 22 Mar 2005 Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C, Deng HW, Goodship THJ (2005) The development of atypical HUS is influenced by susceptibility factors in factor H and membrane cofactor protein-evidence from two independent cohorts. J Med Genet Epub 22 Mar 2005
14.
Zurück zum Zitat Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Cigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH (2004) Complement factor I: A susceptibility gene for atypical hemolytic uremic syndrome. J Med Genet 41: e84CrossRefPubMed Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Cigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH (2004) Complement factor I: A susceptibility gene for atypical hemolytic uremic syndrome. J Med Genet 41: e84CrossRefPubMed
15.
Zurück zum Zitat Dragon-Durey MA, Loirat C, Cloarec S, Macher MA, Blouin J, Nevet H, Weiss L, Fridman WH, Fremeaux-Bacchi V (2005) Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 16:555–563CrossRefPubMed Dragon-Durey MA, Loirat C, Cloarec S, Macher MA, Blouin J, Nevet H, Weiss L, Fridman WH, Fremeaux-Bacchi V (2005) Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 16:555–563CrossRefPubMed
16.
Zurück zum Zitat Cheong HI, Lee BS, Kang HG, Hahn H, Suh KS, Ha IS, Choi Y (2004) Attempted treatment of factor H deficiency by liver transplantation. Pediatr Nephrol 19:454–458CrossRefPubMed Cheong HI, Lee BS, Kang HG, Hahn H, Suh KS, Ha IS, Choi Y (2004) Attempted treatment of factor H deficiency by liver transplantation. Pediatr Nephrol 19:454–458CrossRefPubMed
17.
Zurück zum Zitat Özçakar ZB, Yalçinkaya F, Derelli E, Acar B, Yüksel S, Tulunay Ö (2004) A favorable outcome of hemolytic uremic syndrome with factor H deficiency. Pediatr Nephrol 19:815–816 Özçakar ZB, Yalçinkaya F, Derelli E, Acar B, Yüksel S, Tulunay Ö (2004) A favorable outcome of hemolytic uremic syndrome with factor H deficiency. Pediatr Nephrol 19:815–816
18.
Zurück zum Zitat Zipfel PF, Skerka C (1999) The human factor H like protein 1: a complement regulatory protein with cell adhesion function. Immunol Today 20:135–141CrossRefPubMed Zipfel PF, Skerka C (1999) The human factor H like protein 1: a complement regulatory protein with cell adhesion function. Immunol Today 20:135–141CrossRefPubMed
19.
Zurück zum Zitat Liszewski MK, Farries TC, Lublin DM, Rooney IA, Atkinson JP (1996) Control of complement system. Adv Immunol 61:201–283PubMed Liszewski MK, Farries TC, Lublin DM, Rooney IA, Atkinson JP (1996) Control of complement system. Adv Immunol 61:201–283PubMed
20.
Zurück zum Zitat Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Fridman WH, Weiss L (2004) Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol 15:787–795CrossRefPubMed Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Fridman WH, Weiss L (2004) Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol 15:787–795CrossRefPubMed
Metadaten
Titel
A case of atypical hemolytic uremic syndrome with a transient decrease in complement factor H
verfasst von
Hyewon Hahn
Eun Young Um
Young Seo Park
Hae Il Cheong
Publikationsdatum
01.02.2006
Verlag
Springer-Verlag
Erschienen in
Pediatric Nephrology / Ausgabe 2/2006
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-005-2108-1

Weitere Artikel der Ausgabe 2/2006

Pediatric Nephrology 2/2006 Zur Ausgabe

Neuer Typ-1-Diabetes bei Kindern am Wochenende eher übersehen

23.04.2024 Typ-1-Diabetes Nachrichten

Wenn Kinder an Werktagen zum Arzt gehen, werden neu auftretender Typ-1-Diabetes und diabetische Ketoazidosen häufiger erkannt als bei Arztbesuchen an Wochenenden oder Feiertagen.

Neue Studienergebnisse zur Myopiekontrolle mit Atropin

22.04.2024 Fehlsichtigkeit Nachrichten

Augentropfen mit niedrig dosiertem Atropin können helfen, das Fortschreiten einer Kurzsichtigkeit bei Kindern zumindest zu verlangsamen, wie die Ergebnisse einer aktuellen Studie mit verschiedenen Dosierungen zeigen.

Spinale Muskelatrophie: Neugeborenen-Screening lohnt sich

18.04.2024 Spinale Muskelatrophien Nachrichten

Seit 2021 ist die Untersuchung auf spinale Muskelatrophie Teil des Neugeborenen-Screenings in Deutschland. Eine Studie liefert weitere Evidenz für den Nutzen der Maßnahme.

Fünf Dinge, die im Kindernotfall besser zu unterlassen sind

18.04.2024 Pädiatrische Notfallmedizin Nachrichten

Im Choosing-Wisely-Programm, das für die deutsche Initiative „Klug entscheiden“ Pate gestanden hat, sind erstmals Empfehlungen zum Umgang mit Notfällen von Kindern erschienen. Fünf Dinge gilt es demnach zu vermeiden.

Update Pädiatrie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.