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Pierson syndrome: a novel cause of congenital nephrotic syndrome.
- Source :
-
Pediatrics [Pediatrics] 2006 Aug; Vol. 118 (2), pp. e501-5. Date of Electronic Publication: 2006 Jul 24. - Publication Year :
- 2006
-
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 beta2 laminin in the basement membrane. Our patient demonstrated classic histopathologic findings of Pierson syndrome on renal biopsy, including absence of beta2 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.
- Subjects :
- Adult
Basement Membrane chemistry
Biopsy
Diagnosis, Differential
Edema etiology
Female
Heterozygote
Humans
Hypertension, Renal etiology
Infant, Newborn
Infant, Small for Gestational Age
Kidney abnormalities
Kidney diagnostic imaging
Kidney embryology
Kidney Glomerulus chemistry
Kidney Glomerulus ultrastructure
Laminin genetics
Male
Mesangial Cells pathology
Oligohydramnios diagnostic imaging
Pregnancy
Syndrome
Ultrasonography, Prenatal
Laminin deficiency
Miosis congenital
Nephrotic Syndrome congenital
Subjects
Details
- Language :
- English
- ISSN :
- 1098-4275
- Volume :
- 118
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 16864643
- Full Text :
- https://doi.org/10.1542/peds.2005-3154