Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome
- 1 August 2006
- journal article
- case report
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 118 (2), e501-e505
- https://doi.org/10.1542/peds.2005-3154
Abstract
In this report, we describe a newborn infant who presented with congenital nephrotic syndrome and renal insufficiency, as well as bilateral microcoria. This constellation of findings is a hallmark of Pierson syndrome, a newly recognized genetic disorder that is caused by a deficiency of β2 laminin in the basement membrane. Our patient demonstrated classic histopathologic findings of Pierson syndrome on renal biopsy, including absence of β2 laminin on immunofluorescent staining, and genetic testing confirmed the diagnosis. We conclude that Pierson syndrome should be included in the differential diagnosis for congenital nephrotic syndrome, especially in patients with ocular abnormalities.Keywords
This publication has 35 references indexed in Scilit:
- Respiratory chain deficiency presenting as congenital nephrotic syndromePediatric Nephrology, 2005
- Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic SyndromeMolecular Cell, 1998
- Systemic lupus erythematosus presenting as congenital nephrotic syndromePediatric Nephrology, 1996
- Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate‐deficient glycoprotein syndromeJournal of Inherited Metabolic Disease, 1996
- Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches.The Journal of cell biology, 1994
- Congenital nephrosis and neonatal cytomegalovirus infection: a clinical associationPediatric Nephrology, 1993
- Renal Disease in Children with the Acquired Immunodeficiency SyndromeNew England Journal of Medicine, 1989
- Congenital nephrotic syndrome: Evolution of medical management and results of renal transplantationThe Journal of Pediatrics, 1984
- Hypothyroidism in the congenital nephrotic syndromeThe Journal of Pediatrics, 1982
- Congenital nephrotic syndrome associated with congenital toxoplasmosisThe Journal of Pediatrics, 1974