Cystic Disease in Women: Clinical Characteristics and Medical Management

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a dominantly inherited systemic disorder equally inherited in men and women characterized by renal cyst development and expansion ultimately leading to renal failure. ADPKD women have a slower rate of progression to renal failure, with a later age of entry into end-stage renal disease (ESRD) as compared with men. Renal cyst growth and renal expansion are the hallmarks of ADPKD, and women will develop renal insufficiency with smaller renal volume than their male counterparts. As well, women have different rates of occurrence of renal and extrarenal complications in ADPKD. Renal complications related to ADPKD, including hypertension and gross hematuria, occur more frequently in men than in women, whereas liver cystic disease occurs earlier and more frequently in women than in men. The presence of polycystic liver disease is related to pregnancy number and oral contraceptive pill use in ADPKD women. Importantly, massive polycystic liver disease requiring surgical intervention occurs primarily in ADPKD women. ADKPD women have a highly successful reproductive course. The chance of a successful pregnancy is excellent in ADPKD women and comparable to healthy unaffected women as long as prepregnancy blood pressure and renal function are normal. Fetal complication rates are no greater than in the general population; however, maternal complication rates in ADPKD women are high with an increased frequency of new or worsening hypertension as well as an increased occurrence of preeclampsia and preterm deliveries. Finally, increasing pregnancy number has minimal or no effect on renal outcome in ADPKD women.