Pregnancy in women with cystinosis

Abstract

Cystinosis is a rare autosomal recessive disease causing cystine deposition in all tissues, primarily affecting the kidneys. There are few published reports of pregnancy in women with cystinosis, and little evidence is available regarding optimal management. Kidney transplantation and cystine-depleting therapy have transformed the prognosis of cystinosis, and pregnancy is increasingly considered. The evidence base for cystinosis management in pregnancy, therefore, requires expansion. We report three successful pregnancy outcomes and five early pregnancy losses in two women with cystinosis. The challenges of pregnancy in patients with cystinosis are discussed. Pre-pregnancy planning and antenatal management in a specialist renal obstetric clinic are paramount.