[From gene to disease; the haemolytic uraemic syndrome can be caused by mutations in regulating factors of the alternative route of the complement system]
SourceNederlands Tijdschrift voor Geneeskunde, 151, 3, (2007), pp. 185-8
Article / Letter to editor
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Paediatrics - OUD tm 2017
Blood Transfusion and Transplantation Immunology
Nederlands Tijdschrift voor Geneeskunde
SubjectIGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 8: Mitochondrial medicine; IGMD 9: Renal disorder; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; UMCN 1.5: Interventional oncology; UMCN 5.4: Renal disorders
Defective control of the alternative route of the complement system is an important cause of the non-diarrhoea haemolytic uraemic syndrome (HUS). On the endothelial surface, mutations in HF1, MCP and IF predispose to development ofHUS. Uncontrolled complement activation on the surface of endothelial cells will damage these cells extensively. Plasmapheresis can be an effective, although temporary, treatment for mutations in HF1 and IF. HUS frequently recurs after renal transplantation in patients with HF1 or IF mutations but not in patients with a mutation of MCP. These genetic defects can be detected by routine diagnostics.
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