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Congenital nephrotic syndrome in an infant with ALG1 ‐congenital disorder of glycosylation
Author(s) -
Harshman Lyndsay A,
Ng Bobby G,
Freeze Hudson H,
Trapane Pamela,
Dolezal Anna,
Brophy Patrick D,
Brumbaugh Jane E
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12988
Subject(s) - congenital nephrotic syndrome , medicine , nephrotic syndrome , peritoneal dialysis , proteinuria , renal function , pediatrics , renal biopsy , congenital disorder , kidney , pathology , surgery
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.