Introduction: Cystinuria is recognised to cause concern about children inheriting the disease, however the impact of pregnancy in cystinuria has not been well studied. Management in pregnant women is challenging due to regular stone formation, difficulty in imaging as well as contraindication of thiol binding medication.
Methods: From a prospective database in a single center, we identified female patients known to have children. With the help of our patients we constructed a questionnaire to evaluate the experiences and challenges of pregnancy in cystinurics.
Results: Questionnaire sent to 37 patients; 23 responses received. Mean age 39; Median age of diagnosis 22. Median no.of children was 2 (range 1-4); age range of children was 4 months to 22 yrs. 74% and 50% were taking/ had taken alkalinisation or thiol binding medication respectively.
We identified 3 major issues. Firstly, patients were under supported: 37% were anxious about getting pregnant because of cystinuria; only 23% were given specific advice about getting pregnant; 36% had to cease cystinuria medication. Only 27% were offered increased checks during pregnancy. Most reported increasing fluids during pregnancy. 68% found the OBGYN team did not know about cystinuria. Secondly symptoms and new stone formation was a problem. 32% passed stones and 23% reported needing surgery during pregnancy. 54% felt they formed stones during pregnancy that subsequently needed treating. Lastly, the ability to breastfeed was negatively impacted. 59% reported having to stop breastfeeding or discontinued medications to be able to breastfeed. Overall, whilst 64% do not think cystinuria is a barrier to pregnancy, 23% do still think it is. 91% report being concerned their children could have cystinuria; 77% have actually sought advice for them and 50% have actually been tested. Of those with genetic testing, 11 had SLC3A1 mutation; 8 SLC 7A9 and 3 had both. There was no clinical differences experienced in pregnancy between the groups.
Conclusions: Cystinuria causes significant anxiety to female patients considering pregnancy as well as challenges during and afterwards due to cessation of medication, frequent stone episodes and extra surgery. Female patients should be counselled by urologists to ease the anxiety and offered extra ultrasound screening and easy access back to urological services if stone episodes occur. Liaising directly with the OBGYN will help to improve their knowledge as well as patient experience. With appropriate support women should not see cystinuria as a barrier to childbirth. In future work, it would be interesting to explore the concerns for nulliparous women. Source of
