title: Pregnancy in autosomal recessive polycystic kidney disease.
abstract: OBJECTIVE
  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.
authors.affiliation: Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 10C103CA, Bethesda, Maryland, 20892-1851, USA.
authors.forename: Nicole
authors.initials: N
authors.lastname: Banks
authors.forename: Joy
authors.initials: J
authors.lastname: Bryant
authors.forename: Roxanne
authors.initials: R
authors.lastname: Fischer
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.forename: Meral
authors.initials: M
authors.lastname: Gunay-Aygun
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008875:Middle Aged; D017044:Polycystic Kidney, Autosomal Recessive / Q000150:complications*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology*; D011256:Pregnancy Outcome