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Pediatr Int. 2016 Aug;58(8):785-8. doi: 10.1111/ped.12988. Epub 2016 Jun 21.

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

Author information

  • 1Division of Pediatric Nephrology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.
  • 2Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute, Sanford Children's Health Research Center, La Jolla, CA, USA.
  • 3Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.
  • 4Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
  • 5Division of Neonatology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.

Abstract

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.

KEYWORDS:

edema; hypoalbuminemia; microcephaly; peritoneal dialysis

PMID:
27325525
PMCID:
PMC4996748
[Available on 2017-08-01]
DOI:
10.1111/ped.12988
[PubMed - in process]
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