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• W2155989698 abstract "<b>Background:</b> The aetiology of atypical haemolytic uraemic syndrome (aHUS) is, in contrast to classical, Shiga-like toxin induced HUS in children, largely unknown. Deficiency of human complement factor H and familial occurrence led to identification of the factor H gene (<i>FH1</i>) as the susceptibility gene, but the frequency and relevance of <i>FH1</i> mutations are unknown. <b>Methods:</b> We established a German registry for aHUS and analysed in all patients and 100 controls the complete <i>FH1</i> gene by single strand confirmational polymorphism and DNA sequencing. In addition, complement C3 and factor H serum levels were assayed. Demographic data at onset of aHUS and follow up were compared for the mutation positive and negative groups. <b>Results:</b> Of 111 patients with aHUS (68 female, 43 male, mean age 33 years) 14% had <i>FH1</i> germline mutations, including two of eight patients with familial aHUS.For each of these eight patients, both parents were tested, and we were able to trace the mutation for five cases. In the other three cases (one with the mutation 3749 C/T, one with 3200 T/C, and one with 3566+1 G/A), we could not detect the mutation in either parent, although paternity was proven by genetic fingerprinting, suggesting that these subjects have new mutations. C3 was decreased in five mutation carriers but also in two non-carriers, and factor H was decreased in none of the carriers, but elevated in six carriers and 15 non-carriers. Clinical parameters including associated medications and diseases, and outcome of aHUS and of post-aHUS kidney transplantation were similar in the mutation positive and negative groups. <b>Conclusion:</b><i>FH1</i> germline mutations occur with considerable frequency in patients with aHUS. Hypocomplementaemia is not regularly associated with a germline mutation, and factor H serum levels can even be elevated. Screening for <i>FH1</i> mutations contributes to the classification of aHUS." @default.
• W2155989698 created "2016-06-24" @default.
• W2155989698 creator A5057117005 @default.
• W2155989698 date "2003-09-01" @default.
• W2155989698 modified "2023-10-17" @default.
• W2155989698 title "Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries" @default.
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• W2155989698 doi "https://doi.org/10.1136/jmg.40.9.676" @default.
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