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Abstract: PO2239

Maternal Health in Autosomal Dominant Tubulointerstitial Kidney Disease

Session Information

Category: Women’s Health and Kidney Diseases

  • 2000 Women’s Health and Kidney Diseases

Authors

  • Bowline, Isai G., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Williams, Adrienne H., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Connaughton, Dervla M., London Health Sciences Centre, London, Ontario, Canada
  • Robins, Victoria C., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Taylor, Abbigail, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Martin, Lauren, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Kim, Alice, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Langefeld, Carl D., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Zivna, Martina, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
  • Kmoch, Stanislav, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
Background

Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) and UMOD mutations (ADTKD-UMOD) are becoming increasingly recognized as causes of chronic kidney disease (CKD). Genetic testing allows women to determine if they are affected with these conditions, and data on the outcomes in pregnancy in ADTKD would be of great interest to them as they prepare for future pregnancies.

Methods

We surveyed women with ADTKD and genetically unaffected family regarding past pregnancy outcomes. We also analyzed survival to end-stage kidney disease (ESKD) according to number of pregnancies.

Results

We received completed standardized questionnaires surveys from 52 women with ADTKD-MUC1 (113 pregnancies), 74 women with ADTKD-UMOD (136 pregnancies), and 35 genetically unaffected women (64 pregnancies). At the time of pregnancy, only 16.5% of genetically affected women were aware that they had ADTKD. Results are summarized in Table 1. There was a nonstatistical increase in HTN and hospitalization for HTN. 10% of births to affected mothers were premature vs. 0% in unaffecteds (p<0.01); 12% of babies required a NICU stay vs. 6% in unaffecteds (p=0.06), but child outcomes were good. Survival analysis showed no statistical differences in age to ESRD based on number of pregnancies for affected women.

Conclusion

Patients with ADTKD had an increased prevalence of hypertension, anemia, and early delivery than controls, but overall pregnancy outcomes were good for mother and child. More information is needed on changes in glomerular filtration rate with pregnancy in ADTKD.

Characteristics and Pregnancy Complications Reported.
CharacteristicADTKD-MUC1ADTKD-UMODADTKD-MUC1 and
ADTKD-UMOD
Unaffectedp-value with individual as cluster
Individuals (n)35508523 
Pregnancies (n)749016450 
Age during pregnancy28.3±4.8 (n=73)27.0±4.8 (n=88)27.6±4.8 (n=161)29.3±4.1 (n=50)0.032
High blood pressure during pregnancy8 (11%)22 (24%)30 (18%)6 (12%)0.54
New onset high blood pressure6 (8%)17 (19%)23 (14%)6 (12%)0.71
Hospitalized for hypertension3 (4%)9 (10%)12 (7%)1 (2%)0.13
Anemia10 (14%)9 (10%)19 (12%)1 (2%)0.058
New anemia8 (11%)4 (4%)12 (7%)1 (2%)0.10
Premature (<37 weeks)8 (11%)10 (11%)16 (10%)0< 0.0001
Cesarean section14 (19%)17 (19%)31 (19%)19 (38%)0.061
Neonatal intensive care admission9 (13%)10 (11%)19 (12%)3 (6%)0.25

Funding

  • Private Foundation Support