Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
Congenital nephrotic syndrome (NS) in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital NS in a multi-system syndrome is less common. We describe the case of an infant with deteriorating neurological status, seizures, edema, and proteinuria who was found to have a mutation in gene ALG1 and a renal biopsy consistent with congenital NS. Furthermore, we briefly review rare existing case reports documenting congenital NS in patients with mutations in ALG1, and treatment strategies, including novel use of peritoneal dialysis.
Division of Pediatric Nephrology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.
Lyndsay A
LA
Harshman
Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute, Sanford Children's Health Research Center, La Jolla, CA, USA.
Bobby G
BG
Ng
Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute, Sanford Children's Health Research Center, La Jolla, CA, USA.
Hudson H
HH
Freeze
Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.
Pamela
P
Trapane
Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Anna
A
Dolezal
Division of Pediatric Nephrology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.
Patrick D
PD
Brophy
Division of Neonatology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.
Jane E
JE
Brumbaugh
D000015:Abnormalities, Multiple; D018981:Congenital Disorders of Glycosylation / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D006031:Glycosylation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D010530:Peritoneal Dialysis
D004247:DNA; D008364:Mannosyltransferases; C035777:chitobiosyldiphosphodolichol beta-mannosyltransferase
edema; hypoalbuminemia; microcephaly; peritoneal dialysis