In recent years, there has been a trend in patients receiving ADPKD diagnoses at an earlier age. This is possibly attributed to two factors: an increased use of family health history analysis and an increase in physician knowledge about disease symptoms. An earlier diagnosis for affected individuals has important implications for family planning, including the option of PGT for ADPKD. This article will summarize the symptoms, inheritance and fertility complications for those affected by the disease.
ADPKD is one of the most common hereditary diseases and is associated with serious medical complications. Healthy kidneys are supposed to be the size of your fist; they filter waste and extra fluid from the bloodstream. Kidneys also help keep electrolytes stable, in addition to producing certain important hormones. Individuals with ADPKD can develop fluid-filled cysts that cause kidneys to increase to the size of a football and impair kidney function. The progression of the disease is more aggressive when patients experience issues with their kidneys before the age of 35.
The Genetics of ADPKD
Mutations in three known genes associated with ADPKD can be found in over 93 percent of patients diagnosed with the disease. The type of mutation that a patient has can impact the severity and rate of progression of the disease: The earlier the appearance of symptoms in the patient and their affected relatives, the greater the chance of a more severe mutation. Certain mutations in the PKD1 gene, which account for 78 percent of instances of the disease, are also more likely to increase the severity of symptoms.
Genetic specialists — such as genetic counselors — can predict the severity of the disease by examining a blood sample from an individual who inherits a familial mutation. Specialists will use the information from DNA testing of ADPKD genes in conjunction with family health history information.
Fertility Complications Associated With ADPKD
ADPKD is autosomal dominant, meaning that a parent has a 50 percent chance of passing the mutation on to their offspring. Because of this increased risk, patients should seek counseling to learn more about the option of preimplantation genetic testing (PGT), which screens embryos for the mutation that causes the disease in the affected parent. Before PGT for ADPKD can be performed, a mutation must be identified in the affected individual.
A successful pregnancy for women who have ADPKD depends on their kidney function at the time of conception and throughout their pregnancy. Pregnancy causes a lot of stress on the kidneys, and pregnant women with the disease are at an increased risk of preeclampsia and elevated levels of protein in the urine, and should be carefully monitored. Choosing a gestational surrogate to carry the pregnancy to term is certainly an option to explore.
Males with ADPKD typically do not have fertility issues. Some males severely affected by the disease can have differences in sperm structure or anatomical differences and may require an intracytoplasmic sperm injection (ICSI) procedure to fertilize the egg.
Specialists Can Guide You Through Your Options
Many factors will determine whether PGT is the right option for someone with ADPKD, including the severity of the mutation and what steps they want to take to avoid passing it on to their child.
Despite the increased risks, many fertility specialists have helped patients with ADPKD have healthy babies. Specialists can partner with a high-risk OB-GYN to minimize complications when the mother has the disease.
If you have a family history that suggests the possibility of ADPKD, or a known mutation in your family, find a fertility practice that has experience working with patients with this disease to learn more about your options.
Leslie is a board-certified clinical genetic counselor and former Program Manager for the preimplantation genetic testing (PGT) program of the ORM Genomics team and former Project Manager for SharingHealthyGenes.com. She completed her Bachelor’s degree at DePauw University and her Master’s degree in Genetic Counseling at the University of Texas Graduate School of Biomedical Sciences at Houston. Since graduating in 2000, she has worked as a clinical genetic counselor in several specialties including prenatal, pediatric and cancer genetics and has been very involved with the National Society of Genetic Counselors.