BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), an autosomal dominant genetic disorder with a reported prevalence of 1 in 1,000, may be associated with hypertensive disease in pregnancy. The evaluation of a pregnant woman with an adult-onset genetic disorder is complex and involves counseling about inheritance, prenatal diagnosis and management of the current pregnancy. CASE: A 33-year-old woman presented for obstetric care with a history of hypertension and ADPKD for 6 years. The patient had secondary infertility, which was treated by in vitro fertilization. The case was complicated by twin gestation and superimposed severe preeclampsia, leading to preterm cesarean delivery at 26 weeks' estimated gestational age. CONCLUSION: Because of the heritable nature of ADPKD and the long-term risk of end-stage renal disease requiring dialysis and/or renal transplantation, the evaluation and counseling of women with ADPKD who are pregnant or considering pregnancy should include a discussion of the modes of inheritance, natural history, available prenatal diagnostic options, and pregnancy risks and management options. Specific counseling issues in this case include the genetic concepts of variable expression and penetrance and the medical management of chronic hypertension and preeclampsia.
BACKGROUND:Autosomal dominant polycystic kidney disease (ADPKD), an autosomal dominant genetic disorder with a reported prevalence of 1 in 1,000, may be associated with hypertensive disease in pregnancy. The evaluation of a pregnant woman with an adult-onset genetic disorder is complex and involves counseling about inheritance, prenatal diagnosis and management of the current pregnancy. CASE: A 33-year-old woman presented for obstetric care with a history of hypertension and ADPKD for 6 years. The patient had secondary infertility, which was treated by in vitro fertilization. The case was complicated by twin gestation and superimposed severe preeclampsia, leading to preterm cesarean delivery at 26 weeks' estimated gestational age. CONCLUSION: Because of the heritable nature of ADPKD and the long-term risk of end-stage renal disease requiring dialysis and/or renal transplantation, the evaluation and counseling of women with ADPKD who are pregnant or considering pregnancy should include a discussion of the modes of inheritance, natural history, available prenatal diagnostic options, and pregnancy risks and management options. Specific counseling issues in this case include the genetic concepts of variable expression and penetrance and the medical management of chronic hypertension and preeclampsia.
Authors: Min Wu; Diping Wang; Ladan Zand; Peter C Harris; Wendy M White; Vesna D Garovic; Cindy A Kermott Journal: J Matern Fetal Neonatal Med Date: 2015-03-10