Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.

TitleCongenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
Publication TypeJournal Article
Year of Publication2016
AuthorsHarshman, LA, Ng, BG, Freeze, HH, Trapane, P, Dolezal, A, Brophy, PD, Brumbaugh, JE
JournalPediatr Int
Date Published2016 Aug
KeywordsAbnormalities, Multiple, Congenital Disorders of Glycosylation, DNA, DNA Mutational Analysis, Glycosylation, Humans, Infant, Newborn, Male, Mannosyltransferases, Mutation, Nephrotic Syndrome, Peritoneal Dialysis

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.

Alternate JournalPediatr Int
PubMed ID27325525
PubMed Central IDPMC4996748
Grant ListR01 DK055615 / DK / NIDDK NIH HHS / United States
R01 DK099551 / DK / NIDDK NIH HHS / United States
U54 HG006493 / HG / NHGRI NIH HHS / United States