Year: 2009
Type: Article
Title: Papillorenal syndrome after beta-interferon treatment in pregnancy
Author: Zoran Gucev
Author: Ilija Kirovski
Author: Jancevska, Aleksandra
Author: Pop Jordanova, Nada
Author: Velibor Tasic
Abstract: Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomatous eye defects, abnormal vascular pattern of the optic disk, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and sometimes central nervous system (CNS) abnormalities. The syndrome is associated with mutations in the PAX2 gene. This 11-year-old girl's mother was treated with beta-interferon (IFNbeta-1a) for multiple sclerosis (MS) during the pregnancy. The child failed to thrive in infancy and early childhood. The multicystic renal dystrophy, hypoplastic right kidney, and vesico-ureteral reflux (II-III grade) were diagnosed by ultrasound and radionucleotide renal scan. Subsequently, a morning glory anomaly and coloboma of the optic disc was discovered. Renal failure progressively followed. MRI of the head revealed a cyst of the right optic nerve. Genetic analysis revealed a mutation of the PAX2 gene (619 insG). The multicystic renal dystrophy and a cyst of the optic nerve in association with PRS syndrome have only rarely been described. The fact that this PRS patient stemmed from a pregnancy under beta-interferon treatment raises the question whether IFNbeta-1a treatment during pregnancy has influenced the manifestation or the severity of the PAX2 mutant phenotype in this child.
Publisher: Informa Healthcare
Relation: Renal failure
Identifier: oai:repository.ukim.mk:20.500.12188/13224
Identifier: http://hdl.handle.net/20.500.12188/13224Identifier: 10.1080/08860220902968862
Identifier: http://www.tandfonline.com/doi/pdf/10.1080/08860220902968862Identifier: 31
Identifier: 7