title: Hemolytic uremic syndrome due to homozygous factor H deficiency.
abstract: The majority of complement factor H mutations associated with atypical hemolytic uremic syndrome (HUS) are heterozygous. Homozygous mutations causing atypical hemolytic uremic syndrome are rare. We report a 7-month-old boy with HUS, severe hypocomplementemia (low C3 and normal C4 levels), and extremely low circulating levels of factor H. Genetic analysis showed homozygous 4 bp deletion in the gene encoding factor H in the patient, with his parents being carriers. The patient showed progression to end-stage renal disease and is presently on chronic ambulatory peritoneal dialysis.
authors: Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors: Sidharth Kumar
authors: SK
authors: Sethi
authors: Laboratoire d'Immunologie, Hôpital Européen Georges Pompidou, Université Paris Descartes, Paris, France.
authors: Dragon-Durey
authors: DD
authors: Marie-Agnes
authors: Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors: Neelam
authors: N
authors: Thaker
authors: Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors: Pankaj
authors: P
authors: Hari
authors: Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India. arvindbagga@hotmail.com.
authors: Arvind
authors: A
authors: Bagga
mesh_terms: D001483:Base Sequence; D003176:Complement C3 / Q000235:genetics / Q000378:metabolism; D003181:Complement C4 / Q000235:genetics / Q000378:metabolism; D017242:Complement Factor H / Q000172:deficiency / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006463:Hemolytic-Uremic Syndrome / Q000209:etiology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data
chemical_list: D003176:Complement C3; D003181:Complement C4; D017242:Complement Factor H