Atypical haemolytic uraemic syndrome in a child with cystic fibrosis
Corresponding Author
Matthew D Wong
Department of Paediatric Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia
Child Health Research Centre, The University of Queensland, Brisbane, Queensland, Australia
Correspondence: Dr Matthew D Wong, Department of Paediatric Respiratory and Sleep Medicine, Queensland Children's Hospital, PO Box 3474, South Brisbane, QLD. 4101, Australia. Fax: +61 73068 2309; email: [email protected]
Search for more papers by this authorChirag Patel
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
Search for more papers by this authorSteven McTaggart
Queensland Child and Adolescent Renal Service, Queensland Children's Hospital, Brisbane, Queensland, Australia
Children's Health Queensland Clinical Unit, The University of Queensland, Brisbane, Queensland, Australia
Search for more papers by this authorClaire E Wainwright
Department of Paediatric Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia
Child Health Research Centre, The University of Queensland, Brisbane, Queensland, Australia
Search for more papers by this authorCorresponding Author
Matthew D Wong
Department of Paediatric Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia
Child Health Research Centre, The University of Queensland, Brisbane, Queensland, Australia
Correspondence: Dr Matthew D Wong, Department of Paediatric Respiratory and Sleep Medicine, Queensland Children's Hospital, PO Box 3474, South Brisbane, QLD. 4101, Australia. Fax: +61 73068 2309; email: [email protected]
Search for more papers by this authorChirag Patel
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
Search for more papers by this authorSteven McTaggart
Queensland Child and Adolescent Renal Service, Queensland Children's Hospital, Brisbane, Queensland, Australia
Children's Health Queensland Clinical Unit, The University of Queensland, Brisbane, Queensland, Australia
Search for more papers by this authorClaire E Wainwright
Department of Paediatric Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia
Child Health Research Centre, The University of Queensland, Brisbane, Queensland, Australia
Search for more papers by this authorConflict of interest: None declared.
References
- 1Feitz WJC, van de Kar N, Orth-Holler D, van den Heuvel L, Licht C. The genetics of atypical hemolytic uremic syndrome. Med. Genet. 2018; 30: 400–9.
- 2de Jong S, Volokhina EB, de Breuk A et al. Effect of rare coding variants in the CFI gene on factor I expression levels. Hum. Mol. Genet. 2020; 29: 2313–24.
- 3Zipfel PF, Edey M, Heinen S et al. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet. 2007; 3: e41.
- 4Loirat C, Fakhouri F, Ariceta G et al. An international consensus approach to the management of atypical hemolytic uremic syndrome in children. Pediatr. Nephrol. 2016; 31: 15–39.
- 5Australian Genomics Health Alliance Acute Care F, Lunke S, Eggers S et al. Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system. JAMA 2020; 323: 2503–11.
- 6Vieira-Martins P, El Sissy C, Bordereau P, Gruber A, Rosain J, Fremeaux-Bacchi V. Defining the genetics of thrombotic microangiopathies. Transfus. Apher. Sci. 2016; 54: 212–9.
- 7Noris M, Caprioli J, Bresin E et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin. J. Am. Soc. Nephrol. 2010; 5: 1844–59.
- 8Bresin E, Rurali E, Caprioli J et al. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. J. Am. Soc. Nephrol. 2013; 24: 475–86.
- 9Caprioli J, Noris M, Brioschi S et al. Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 2006; 108: 1267–79.
- 10Bienaime F, Dragon-Durey MA, Regnier CH et al. Mutations in components of complement influence the outcome of factor I-associated atypical hemolytic uremic syndrome. Kidney Int. 2010; 77: 339–49.
- 11Geerdink LM, Westra D, van Wijk JA et al. Atypical hemolytic uremic syndrome in children: Complement mutations and clinical characteristics. Pediatr. Nephrol. 2012; 27: 1283–91.
- 12Menne J, Delmas Y, Fakhouri F et al. Outcomes in patients with atypical hemolytic uremic syndrome treated with eculizumab in a long-term observational study. BMC Nephrol. 2019; 20: 125.
- 13Smyth A, Lewis S, Bertenshaw C, Choonara I, McGaw J, Watson A. Case-control study of acute renal failure in patients with cystic fibrosis in the UK. Thorax 2008; 63: 532–5.
