KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling.

نویسندگان

  • Chirag Patel
  • Michel Tchan
  • Judy Savige
  • Andrew Mallett
  • Allison Tong
  • David J Tunnicliffe
  • Gopala K Rangan
چکیده

550 a. We recommend that adult patients diagnosed with autosomal dominant polycystic kidney disease are referred to their regional genetics service for genetic counseling if they are interested in and would like to discuss (2B) the following: i. Inheritance pattern and clarifying/communicating disease risk to family members ii. Molecular genetic testing (role, indication, and interpretation) iii. Family planning and prenatal testing options (including preimplantation genetic diagnosis) b. We recommend adults and children at risk of autosomal dominant polycystic kidney disease are referred to their regional genetics service for genetic counseling if they are interested in and would like to discuss (2A) the following: i. Inheritance pattern and their risk of disease ii. Predictive testing (via renal imaging and/or molecular genetic testing) and associated issues iii. Family planning and prenatal testing options (including preimplantation genetic diagnosis)

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عنوان ژورنال:
  • Seminars in nephrology

دوره 35 6  شماره 

صفحات  -

تاریخ انتشار 2015