July 13th, 2020

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Renal Coloboma Syndrome in Pregnancy: A Case Report
Authors:  Amy Boone, M.D., and Bassam H. Rimawi, M.D.
BACKGROUND: Renal coloboma syndrome is a rare condition characterized by renal and optic malformations, including colobomatous eye abnormalities, hear-ing loss, and end stage renal disease secondary to hypoplastic kidneys, requiring dialysis and renal transplant to survive. Given the comorbidities associated with this condition, pregnancy is considered high risk and may be associated with adverse pregnancy outcomes, including further hypertensive disorders, preterm delivery, and intrauterine fetal demise.

CASE: A pregnant woman with renal coloboma syndrome secondary to a de novo mutation, confirmed by a PAX-2 genetic mutation, had a history of a living unrelated donor kidney transplant, a right eye vitrectomy, and later diagnosis of Epstein-Barr virus–positive post-transplant B-cell primary lymphoproliferative disorder, which remained in remission during her pregnancy. Invasive prenatal genetic testing confirmed a fetal diagnosis of renal coloboma syndrome. The pregnancy was further complicated by a history of a previous myomectomy.

CONCLUSION: The patient received late preterm antenatal corticosteroids at 35 weeks of gestation and subsequently underwent a primary cesarean section at 36 weeks of gestation. She delivered a viable female infant with a confirmed PAX-2 gene mutation. Both mother and infant had an uneventful hospital course and were discharged home. Postnatal evaluation was consistent with bilaterally small kidneys and optic nerve colobomas.
Keywords:  coloboma, hypoplastic kidneys, microphthalmia, optic malformation, papillorenal syndrome, renal coloboma syndrome, rituximab
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