title: Reproductive issues for adults with autosomal dominant polycystic kidney disease.
abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder. However, the consequences of ADPKD on male and female reproductive health are not widely known. Several abnormalities are found in men with ADPKD, including necrospermia, immotile sperm, seminal vesicle cysts, and ejaculatory duct cysts. Female fertility is not affected. Affected women with ADPKD and normal renal function have a high rate of successful uncomplicated pregnancies. Pregnant women with ADPKD with compromised kidney function should be monitored carefully for the development of hypertension and preeclampsia. Their fetuses should be examined sonographically for signs of uteroplacental insufficiency, such as intrauterine growth restriction and oligohydramnios. The diagnosis of ADPKD should always be considered when prenatal sonographic findings of hyperechogenic enlarged kidneys are found. In this setting, a family history and renal sonogram of both parents is indicated. Sequencing of the PKD1 and PKD2 genes is available and can be used for both prenatal and preimplantation genetic diagnosis. We review in detail these topics to familiarize physicians taking care of patients with ADPKD with the reproductive issues that confront affected individuals.
authors.affiliation: Department of Pediatrics, Tufts-New England Medical Center and Floating Hospital for Children, Boston, MA 02111, USA.
authors.forename: Neeta
authors.initials: N
authors.lastname: Vora
authors.forename: Ronald
authors.initials: R
authors.lastname: Perrone
authors.forename: Diana W
authors.initials: DW
authors.lastname: Bianchi
mesh_terms: D000328:Adult; D017668:Age of Onset; D003376:Counseling; D003560:Cysts / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000517:prevention & control; D005832:Genital Diseases, Male / Q000235:genetics; D006801:Humans; D046110:Hypertension, Pregnancy-Induced / Q000517:prevention & control; D007248:Infertility, Male / Q000235:genetics / Q000503:physiopathology*; D007668:Kidney / Q000000981:diagnostic imaging; D008297:Male; D016104:Oligohydramnios / Q000517:prevention & control; D021041:Placental Circulation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics / Q000503:physiopathology*; D011225:Pre-Eclampsia / Q000517:prevention & control; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics / Q000503:physiopathology*; D019836:Preimplantation Diagnosis; D012098:Reproduction; D012669:Seminal Vesicles / Q000473:pathology; D017422:Sequence Analysis, DNA; D013094:Spermatozoa / Q000002:abnormalities; D050396:TRPP Cation Channels; D016216:Ultrasonography, Prenatal
chemical_list: D050396:TRPP Cation Channels