BACKGROUND: In a recent study of three families we have found that inherited haemolytic uraemic syndrome (HUS) maps to a region of chromosome 1q containing the gene for complement factor H. In one of these families and also in a case of sporadic D-HUS, we have identified mutations in the factor H gene. A further family with inherited HUS has therefore been investigated. METHODS: DNA extracted from the family members and DNA extracted from archival post-mortem material from a deceased family member, was studied. Review of renal biopsies and study of complement components was also undertaken. RESULTS: This family demonstrates an inherited deficiency of complement factor H. Non-diarrhoeal HUS has affected at least two family members with half normal levels of factor H. CONCLUSION: These findings represent further evidence of the association between factor H dysfunction and HUS.
BACKGROUND: In a recent study of three families we have found that inherited haemolytic uraemic syndrome (HUS) maps to a region of chromosome 1q containing the gene for complement factor H. In one of these families and also in a case of sporadic D-HUS, we have identified mutations in the factor H gene. A further family with inherited HUS has therefore been investigated. METHODS: DNA extracted from the family members and DNA extracted from archival post-mortem material from a deceased family member, was studied. Review of renal biopsies and study of complement components was also undertaken. RESULTS: This family demonstrates an inherited deficiency of complement factor H. Non-diarrhoeal HUS has affected at least two family members with half normal levels of factor H. CONCLUSION: These findings represent further evidence of the association between factor H dysfunction and HUS.
Authors: Angela Gerber; Antje H Kirchhoff-Moradpour; Silke Obieglo; Matthias Brandis; Michael Kirschfink; Peter F Zipfel; Judith A Goodship; Lothar B Zimmerhackl Journal: Pediatr Nephrol Date: 2003-06-26 Impact factor: 3.714
Authors: Tamara Manuelian; Jens Hellwage; Seppo Meri; Jessica Caprioli; Marina Noris; Stefan Heinen; Mihaly Jozsi; Hartmut P H Neumann; Giuseppe Remuzzi; Peter F Zipfel Journal: J Clin Invest Date: 2003-04 Impact factor: 14.808
Authors: Jeffrey M Saland; Benjamin L Shneider; Jonathan S Bromberg; Patricia A Shi; Stephen C Ward; Margret S Magid; Corinne Benchimol; Mouin G Seikaly; Sukru H Emre; Elena Bresin; Giuseppe Remuzzi Journal: Clin J Am Soc Nephrol Date: 2008-11-12 Impact factor: 8.237