期刊
PEDIATRICS INTERNATIONAL
卷 58, 期 8, 页码 785-788出版社
WILEY-BLACKWELL
DOI: 10.1111/ped.12988
关键词
edema; hypoalbuminemia; microcephaly; peritoneal dialysis
类别
资金
- National Human Genome Research Institute
- National Heart, Lung and Blood Institute [1U54HG006493]
- Rocket Fund
- National Institutes of Health (NIH) [R01DK099551]
- University of Washington Center for Mendelian Genomics (UW CMG)
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.
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