Hemolytic uremic syndrome due to homozygous factor H deficiency.
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.
Sethi
Sidharth Kumar
SK
Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
Marie-Agnes
Dragon-Durey
DD
Laboratoire d'Immunologie, Hôpital Européen Georges Pompidou, Université Paris Descartes, Paris, France.
Thaker
Neelam
N
Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
Hari
Pankaj
P
Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
Bagga
Arvind
A
Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India. arvindbagga@hotmail.com.
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
D003176:Complement C3; D003181:Complement C4; D017242:Complement Factor H