{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T05:40:50Z","timestamp":1761716450124},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5013,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal dominant adult\u2010onset polycystic kidney disease (ADPKD) is estimated to have an incidence of 1\/1,000 and accounts for approximately 10% of all end\u2010stage renal disease in the United States. While relatives are attractive as renal donors due to their availability and the improved transplant success associated with living\u2010related donors, they may coincidentally be at risk for ADPKD. Accurate presymptomatic testing for at\u2010risk potential donors is critical for both the donor and the recipient. We report here 2 families in which presymptomatic testing for ADPKD was accomplished by DNA linkage analysis on several potential renal donors prior to transplant. This resulted in the protection of both donors and recipients by preventing the transplantation of a kidney affected by ADPKD. Thorough counseling prior to DNA analysis (including discussion of accuracy and possible testing outcomes of presymptomatic diagnosis of ADPKD, diagnosis of noncarrier status, false paternity, and noninformative study) was essential to provide informed consent and preserve confidentiality within the family. Confidentiality for potential donors found presymptomatically to be affected (with a 94% or greater probability) was especially difficult to maintain.<\/jats:p>","DOI":"10.1002\/ajmg.1320400409","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:26:01Z","timestamp":1118550361000},"page":"425-428","source":"Crossref","is-referenced-by-count":13,"title":["Presymptomatic testing for adult onset polycystic kidney disease in at\u2010risk kidney transplant donors"],"prefix":"10.1002","volume":"40","author":[{"given":"Vickie L.","family":"Hannig","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne R.","family":"Hopkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. Keith","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"III","given":"John A.","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen T.","family":"Reeders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180108"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1984.154"},{"key":"e_1_2_1_4_1","first-page":"1","article-title":"Bilateral polycystic disease of the kidneys. A follow up of two hundred and eighty\u2010four patients and their families","volume":"328","author":"Dalgaard OZ","year":"1957","journal-title":"Acta Med Scand Suppl"},{"key":"e_1_2_1_5_1","first-page":"1002","volume-title":"Principles and Practice of Medical Genetics","author":"Friedman J"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1182\/blood.V73.5.1081.1081","article-title":"A review of the molecular genetics of the human alpha\u2010globin gene cluster","volume":"73","author":"Higgs DR","year":"1989","journal-title":"Blood"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(87)90293-7"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198810063191405"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(89)80123-4"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199010183231601"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/317542a0"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.292.6524.851"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(88)90146-2"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)92943-1"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320400409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320400409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T08:15:53Z","timestamp":1698048953000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320400409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,9,15]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,9,15]]}},"alternative-id":["10.1002\/ajmg.1320400409"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320400409","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,9,15]]}}}