Polycystic kidney disease and infertility: case report and literature review

Adult polycystic kidney disease (APKD) is a frequent disease (1/1000) responsible for about 10% of chronic renal failure. It is an autosomic dominant disease due to mutation of one out of three genes: PKD1 (on the 16th chromosome), PKD2 (on the 4th chromosome) and PKD3 (still unmapped). In the past APKD diagnosis was normally done in fourteen-fifteen years old subjects who have completed their reproductive program. However frequently today, after renal ultrasound introduction, the APKD diagnosis is made during reproductive life. There are several reports of APKD-related infertility in male subjects. The frequency of this association appeared significantly higher than expected by chance alone in a recent observation. So a possible causal relation between APKD and male infertility may exists. Several pathogenetic mechanisms may be responsible of such an association. We recently observed an infertile couple with long standing infertility due to criptozoospermia (<1 x 10(6) spermatozoa/ml) and necrospermia (100% of died spermatozoa at eosin test) in an APKD affected patient. Endocrine tests showed normal testosterone and FSH levels. A TESA-ICSI was done with two embryos development after fertilization of two oocytes (fertilization rate: 25%). At the 14th day after pick up beta-HCG determination showed 72 mUI/ml. A male baby was born at 40th week of pregnancy. Prenatal morphological ultrasound excluded polycystic kidney.