The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 5
Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation
Osman Yeşilbaş 1 ,Esra Şevketoğlu 1 ,Mey Talip Petmezci 1 ,Hasan Serdar Kıhtır 1 ,Meryem Benzer 2 ,Afig Berdeli 3
1 Departments of Pediatric Critical Care, Bakirkoy Dr. Sadi Konuk Research and Training Hospital, İstanbul, Turkey
2 Departments of Nephrology, Bakirkoy Dr. Sadi Konuk Research and Training Hospital, İstanbul, Turkey
3 Department of Pediatrics, Molecular Medicine Laboratory and Stem Cell Department of Health Science Institute, Ege University Faculty of Medicine İzmir, Turkey
DOI : 10.24953/turkjped.2017.05.011 Yeşilbaş O, Şevketoğlu E, Petmezci MT, Kıhtır HS, Benzer M, Berdeli A. Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation. Turk J Pediatr 2017; 59: 576-580.

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. Keywords : complement factor H gene, hemolytic uremic syndrome, pulmonary edema, therapeutic plasma exchange

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