Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation


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Yesilbas O. , Sevketoglu E., Petmezci M. T. , Kihtir H. S. , Benzer M., BERDELİ A.

TURKISH JOURNAL OF PEDIATRICS, vol.59, no.5, pp.576-580, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 5
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.05.011
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.576-580

Abstract

Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy. The disease frequently occurs as a result of mutations in the genes that regulates complement proteins. Complement factor H gene has the most common mutations. A nine-month-old male patient was transferred to pediatric intensive care unit with the diagnosis of hemolytic uremic syndrome. Nonsense heterozygous p.Arg1215X mutation in the complement factor H gene was detected. The patient who had pulmonary, intestinal and hepatic involvement accompanying acute renal failure was successfully treated with therapeutic plasma exchange and eculizumab. Nonsense heterozygous p.Arg1215X mutation is extremely rare and can cause severe hemolytic uremic syndrome. As far as we know, our patient is the third case with this mutation in the literature.