Papillorenal syndrome after Beta-interferon treatment in pregnancy

Ren Fail. 2009;31(7):602-5. doi: 10.1080/08860220902968862.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Child
  • Coloboma / diagnosis
  • Coloboma / genetics
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Gene Expression Regulation, Developmental
  • Humans
  • Interferon-beta / adverse effects*
  • Interferon-beta / therapeutic use
  • Kidney / abnormalities*
  • Kidney / drug effects
  • Multicystic Dysplastic Kidney / diagnosis
  • Multicystic Dysplastic Kidney / genetics
  • Multiple Sclerosis / diagnosis
  • Multiple Sclerosis / drug therapy*
  • Mutation
  • Optic Nerve / abnormalities*
  • Optic Nerve / drug effects
  • PAX2 Transcription Factor / genetics*
  • Pregnancy
  • Pregnancy Complications / diagnosis
  • Pregnancy Complications / drug therapy*
  • Pregnancy Outcome
  • Rare Diseases
  • Renal Insufficiency / diagnosis
  • Renal Insufficiency / genetics
  • Syndrome
  • Tomography, X-Ray Computed
  • Ultrasonography, Doppler
  • Young Adult


  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Interferon-beta