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

Lyndsay A Harshman; Bobby G Ng; Hudson H Freeze; Pamela Trapane; Anna Dolezal; Patrick D Brophy; Jane E Brumbaugh

doi:10.1111/ped.12988

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

Journal article

Peer reviewed

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

Lyndsay A Harshman, Bobby G Ng, Hudson H Freeze, Pamela Trapane, Anna Dolezal, Patrick D Brophy and Jane E Brumbaugh

Pediatrics international, Vol.58(8), pp.785-788

08/2016

DOI: 10.1111/ped.12988

PMCID: PMC4996748

PMID: 27325525

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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.

Humans

Nephrotic Syndrome - metabolism

Abnormalities, Multiple

Male

Glycosylation

Nephrotic Syndrome - genetics

Congenital Disorders of Glycosylation - metabolism

Mannosyltransferases - genetics

DNA - genetics

Peritoneal Dialysis

DNA Mutational Analysis

Mannosyltransferases - metabolism

Nephrotic Syndrome - therapy

Mutation

Congenital Disorders of Glycosylation - genetics

Infant, Newborn

Details

Title: Subtitle: Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation
Creators: Lyndsay A Harshman - Division of Pediatric Nephrology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA
Bobby G Ng - Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute, Sanford Children's Health Research Center, La Jolla, CA, USA
Hudson H Freeze - Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute, Sanford Children's Health Research Center, La Jolla, CA, USA
Pamela Trapane - Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA
Anna Dolezal - Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
Patrick D Brophy - Division of Pediatric Nephrology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA
Jane E Brumbaugh - Division of Neonatology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA
Resource Type: Journal article
Publication Details: Pediatrics international, Vol.58(8), pp.785-788
DOI: 10.1111/ped.12988
PMID: 27325525
PMCID: PMC4996748
NLM abbreviation: Pediatr Int
ISSN: 1328-8067
eISSN: 1442-200X
Publisher: Wiley; Australia
Grant note: R01 DK055615 / NIDDK NIH HHS U54 HG006493 / NHGRI NIH HHS R01 DK099551 / NIDDK NIH HHS UM1 HG006493 / NHGRI NIH HHS
Language: English
Date published: 08/2016
Academic Unit: Nephrology, Dialysis and Transplantation; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984065390102771

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