{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T10:27:44Z","timestamp":1789208864451,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T00:00:00Z","timestamp":1374105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2013,8]]},"abstract":"Abstract<\/jats:title>Aim<\/jats:title>Apolipoprotein A<\/jats:styled-content>\u2010I<\/jats:styled-content> amyloidosis is a rare, autosomal dominant disorder characterized by progressive accumulation of amyloid fibrils in tissues, leading to renal and hepatic disease. We describe the clinical manifestations and pathologic features of kidney disease in three I<\/jats:styled-content>rish families.<\/jats:p><\/jats:sec>Methods<\/jats:title>This observational study examines all known cases of chronic kidney disease due to hereditary apolipoprotein A<\/jats:styled-content>\u2010I<\/jats:styled-content> amyloidosis in I<\/jats:styled-content>reland. Patients were identified by physician interview. In all of the affected individuals the disease was caused by the Gly26Arg<\/jats:styled-content> heterozygous mutation. Immunohistochemistry confirmed that amyloid deposits were composed of apolipoprotein A<\/jats:styled-content>\u2010I<\/jats:styled-content> fibrils. Family trees and clinical data were obtained via analysis of patient medical records.<\/jats:p><\/jats:sec>Results<\/jats:title>The vast majority of affected cases had demonstrable kidney disease, with variable liver disease. Renal disease most commonly manifested as slowly progressive renal impairment with mild proteinuria. In one kindred, a severe, debilitating peripheral neuropathy was common among affected family members. Histology demonstrated tubulointerstitial fibrosis with amyloid deposition in the medulla. There was very high penetrance within affected families. Of five patients who were transplanted, one transplant was lost after 5 years due to recurrent disease. One patient died from sepsis shortly after transplant.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Hereditary apolipoprotein A<\/jats:styled-content>\u2010I<\/jats:styled-content> amyloidosis is characterized by slowly progressive renal disease. Amyloid is deposited in the renal medulla highlighting the need to examine the medulla on renal biopsy. Overall, kidney transplantation conferred a survival advantage.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nep.12108","type":"journal-article","created":{"date-parts":[[2013,6,3]],"date-time":"2013-06-03T13:09:27Z","timestamp":1370264967000},"page":"549-554","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Clinical and pathologic characteristics of hereditary apolipoprotein A<\/scp>\u2010I<\/scp> amyloidosis in I<\/scp>reland"],"prefix":"10.1111","volume":"18","author":[{"given":"Carol A","family":"Traynor","sequence":"first","affiliation":[{"name":"Department of Nephrology and Transplantation Beaumont Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donal","family":"Tighe","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Our Lady of Lourdes Hospital Drogheda Louth Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J","family":"O'Brien","sequence":"additional","affiliation":[{"name":"Departmant of Nephrology Waterford Regional Hospital Dublin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean F","family":"Leavey","sequence":"additional","affiliation":[{"name":"Departmant of Nephrology Waterford Regional Hospital Dublin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony M","family":"Dorman","sequence":"additional","affiliation":[{"name":"Department of Renal Pathology Beaumont Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark D","family":"Denton","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Transplantation Beaumont Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colm","family":"Magee","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Transplantation Beaumont Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J","family":"Conlon","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Transplantation Beaumont Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2423(09)47001-X"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra023144"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2003.09.001"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005040382"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.1.10"},{"key":"e_1_2_6_7_1","first-page":"1418","article-title":"Liver biopsy discloses a new apolipoprotein A\u2010I hereditary amyloidosis in several unrelated Italian families","volume":"128","author":"Obici L","year":"2004","journal-title":"Gastroenterology"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.21176"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi961191e"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2011.06.024"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2009.080161"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1992.00400230061010"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-6143.2006.01507.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa013354"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnep.12108","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.12108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T09:00:16Z","timestamp":1696237216000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.12108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,18]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1111\/nep.12108"],"URL":"https:\/\/doi.org\/10.1111\/nep.12108","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,18]]},"assertion":[{"value":"2013-05-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-07-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}