Publicaciones científicas

Pregnancy in cystinosis patients with chronic kidney disease: a European case series

17-jun-2022 | Revista: Journal of Inherited Metabolic Disease

Aude Servais  1 , Mirian C H Janssen  2 , Hannah Blakey  3 , Marcella Greco  4 , Sandrine Lemoine  5 , Paloma L Martin-Moreno  6 , David Game  7 , Elena Levtchenko  8 , Graham Lipkin  3 , Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and the ERA working groups on inherited kidney diseases (WGIKD)


Background: Cystinosis is a rare autosomal recessive disease leading to end stage renal disease within the second or third decade of life. Since the era of specific treatment with cysteamine, prognosis has substantially improved and pregnancy becomes an increasing concern.

Methods: Pregnancy data in patients with cystinosis were collected through an anonymised survey. We collected data for 19 pregnancies in 12 women.

Results: 17 patients were transplanted, 1 was on hemodialysis and 1 had chronic kidney disease (CKD) stage 4. These 19 pregnancies resulted in 13 live births (68.4%): 3 spontaneous early miscarriages, 1 ectopic pregnancy, 1 early pre-eclampsia (at 21 weeks), and 1 preterm birth with neonatal death at 24 weeks were reported. After exclusion of early miscarriage or termination, pregnancy success rate was 86.7%. In successful pregnancies, median gestational age at delivery was 34 weeks (24-37). Preeclampsia occurred in 7 pregnancies (7/15, 46.7%). A caesarean section was performed in all pregnancies. Median baby weight at delivery was 2175 g (620-3374g). After pregnancy, one patient reached end stage renal disease, but she already had advanced CKD before pregnancy (creatinine 239 μmol/L, eGFR 23 ml/min/1.73 m2 ). In 3 other patients, there was a decrease of eGFR of 8, 20, and 53 ml/min, respectively.

Conclusion: The majority of pregnancies were successful, but severe antenatal and post-natal complications may occur, in particular preeclampsia that was noticed in nearly half of patients and fetal loss in one third of them. These results may help pre-pregnancy counseling and pregnancy management.

CITA DEL ARTÍCULO  J Inherit Metab Dis. 2022 Jun 17.  doi: 10.1002/jimd.12529