Papillorenal syndrome after Beta-interferon treatment in pregnancy.
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.
Medical Faculty Skopje, 50 Divizija BB, 1000, Skopje, Macedonia. gucevz@gmail.com
Zoran S
ZS
Gucev
Ilija
I
Kirovski
Aleksandra
A
Jancevska
Nada
N
Popjordanova
Velibor
V
Tasic
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D016899:Interferon-beta / Q000009:adverse effects* / Q000627:therapeutic use; D007668:Kidney / Q000002:abnormalities* / Q000187:drug effects; D021782:Multicystic Dysplastic Kidney / Q000175:diagnosis / Q000235:genetics; D009103:Multiple Sclerosis / Q000175:diagnosis / Q000188:drug therapy*; D009154:Mutation; D009900:Optic Nerve / Q000002:abnormalities* / Q000187:drug effects; D051762:PAX2 Transcription Factor / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000188:drug therapy*; D011256:Pregnancy Outcome; D035583:Rare Diseases; D051437:Renal Insufficiency / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D018608:Ultrasonography, Doppler; D055815:Young Adult
D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D016899:Interferon-beta