Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome
| Autor: | David P. Witte, Jens Goebel, Rene G. VanDeVoorde, Jillene Kogan |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Heterozygote Pathology medicine.medical_specialty Hypertension Renal Nephrotic Syndrome Biopsy Kidney Glomerulus Kidney Basement Membrane Oligohydramnios Ultrasonography Prenatal Diagnosis Differential Pregnancy Laminin medicine Edema Humans Congenital nephrotic syndrome Genetic testing Basement membrane medicine.diagnostic_test biology business.industry Infant Newborn Genetic disorder Syndrome Miosis Microcoria medicine.disease medicine.anatomical_structure Infant Small for Gestational Age Mesangial Cells Pediatrics Perinatology and Child Health biology.protein Female Renal biopsy Differential diagnosis business |
| Zdroj: | Pediatrics. 118:e501-e505 |
| ISSN: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.2005-3154 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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