Abstract
Purpose
Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. As treatments improve, more women are reaching reproductive age, but little is known about ARPKD and pregnancy.
Methods
In our ongoing study on ARPKD and other ciliopathies, 12 females over 18 years of age were identified and systematically evaluated. Six had children; four carried pregnancies and delivered, one used assisted reproductive technology and had a surrogate carry the pregnancy, and one adopted. We report the outcomes of four pregnancies with live birth deliveries and two women who chose alternate family building options.
Results
Patient one was diagnosed at 6 months, and at age 21 had a pregnancy complicated by transient worsening of renal function (creatinine increase from 1.15 to 1.78 mg/dL). Patient two was diagnosed with ARPKD at age seven and had an uncomplicated pregnancy at age 23. Patient three was diagnosed incidentally with ARPKD at age 23, 3 months after completion of an uncomplicated pregnancy. Patient four who had an uncomplicated pregnancy at age 33 was diagnosed with ARPKD at age 46.
Conclusions
Women with ARPKD face reproductive decisions largely bereft of information about the pregnancies of other ARPKD patients. We report four cases of pregnancy and ARPKD to expand current knowledge and encourage further research.
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Notes
A ciliopathy is a disease caused by dysfunction of primary (non-motile) cilia.
Caroli disease is characterized by macroscopic saccular or fusiform dilations of the medium and large intrahepatic bile ducts. Caroli syndrome describes the presence of Caroli disease and CHF [2].
As ARPKD is inherited in an autosomal recessive manner, all offspring of an affected individual will be obligate carriers. The carrier frequency in the general population is 1 in 70 [9]. The risk of an affected individual having an affected child, assuming random mate selection, would then be 1 in 140.
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Acknowledgments
This research was supported, in part, by the Intramural Research Program of the National Human Genome Research Institute and the Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland, USA, and clinical trial NCT00068224. The authors thank the Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis Alliance for their extensive support and the patients and their families who generously participated in this investigation.
Conflict of interest
None. The authors do not have a financial relationship with the organization that sponsored the research. The authors have had full control of all primary data and agree to allow the Journal to review the data if requested.
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Banks, N., Bryant, J., Fischer, R. et al. Pregnancy in autosomal recessive polycystic kidney disease. Arch Gynecol Obstet 291, 705–708 (2015). https://doi.org/10.1007/s00404-014-3445-8
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DOI: https://doi.org/10.1007/s00404-014-3445-8