C1q nephropathy in a child with a chromosome 13 deletion.
C1q nephropathy (C1qNP) is a rare cause of childhood nephrotic syndrome (NS). We describe a child with retinoblastoma, lipomyelomeningocele and a chromosome 13 deletion who presented with massive proteinuria due to C1qNP. Despite steroid resistance, successful treatment of the NS was achieved with mycophenolate mofetil.
Roberti
Isabel
I
Pediatric Nephrology and Transplantation, East Wing, Suite 304, Saint Barnabas Medical Center, 94 Old Short Hills Road , Livingston, NJ 07039, USA. Iroberti@sbhcs.com
Sachdev
Sachin
S
Aronsky
Adam
A
Kim
Dae Un
DU
D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications*; D002882:Chromosomes, Human, Pair 13; D015922:Complement C1q / Q000276:immunology*; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008591:Meningomyelocele / Q000150:complications; D009173:Mycophenolic Acid / Q000031:analogs & derivatives / Q000627:therapeutic use; D009402:Nephrosis, Lipoid / Q000150:complications / Q000188:drug therapy / Q000276:immunology*; D019572:Retinal Neoplasms / Q000150:complications; D012175:Retinoblastoma / Q000150:complications
D007166:Immunosuppressive Agents; D015922:Complement C1q; D009173:Mycophenolic Acid