{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:56:22Z","timestamp":1790394982863,"version":"4.1.0"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,1]]},"abstract":"Summary<\/jats:title>\n \n Background and objectives<\/jats:title>\n \n Alport syndrome (AS) is a predominantly X-linked hereditary nephritis associated with high-tone, sensorineural deafness and characteristic eye signs. Clinical diagnostic criteria were defined in 1988. Most cases result from mutations in the X-linked collagen gene\n COL4A5<\/jats:italic>\n , with mutations in the autosomal genes\n COL4A3<\/jats:italic>\n and\n COL4A4<\/jats:italic>\n on chromosome 2 accounting for the rest. Mutation analysis of\n COL4A5<\/jats:italic>\n with a combination of sequencing and multiplex ligation-dependent probe amplification has been available for several years. The objective of this study was to determine the utility of clinical diagnostic criteria in identifying patients likely to have a\n COL4A5<\/jats:italic>\n mutation.\n <\/jats:p>\n <\/jats:sec>\n \n Design, setting, participants, & measurements<\/jats:title>\n \n Clinical information was available on 206 patients whose DNA was received for testing between 1994 and June 2008; predictive tests for a known familial mutation, samples from duplicate family members, and incompletely screened samples were excluded. One hundred and twenty-eight patients (62.1%) had a pathogenic\n COL4A5<\/jats:italic>\n mutation.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The mutation detection rate in families fulfilling zero, one, two, three, or four diagnostic criteria was 0%, 18%, 64%, 89%, and 81%, respectively. Sixty-seven percent of patients with\n COL4A5<\/jats:italic>\n mutations meeting only two diagnostic criteria had not had a complete clinical assessment. In two thirds of families meeting four diagnostic criteria without an identified\n COL4A5<\/jats:italic>\n mutation, autosomal inheritance was confirmed or suspected.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n The authors recommend\n COL4A5<\/jats:italic>\n analysis in any patient meeting at least two clinical diagnostic criteria.\n COL4A3<\/jats:italic>\n and\n COL4A4<\/jats:italic>\n analysis should be considered if a\n COL4A5<\/jats:italic>\n mutation is not detected and primarily if autosomal inheritance is suspected.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.2215\/cjn.00200110","type":"journal-article","created":{"date-parts":[[2010,9,30]],"date-time":"2010-09-30T22:02:04Z","timestamp":1285884124000},"page":"198-203","source":"Crossref","is-referenced-by-count":35,"title":["The Value of Clinical Criteria in Identifying Patients with X-Linked Alport Syndrome"],"prefix":"10.2215","volume":"6","author":[{"given":"Helen","family":"Hanson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Storey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Pagan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Flinter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-27-20230811","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1136\/bmj.1.3454.504","article-title":"Hereditary familial congenital haemorrhagic nephritis","volume":"1","author":"Alport","year":"1927","journal-title":"BMJ"},{"key":"R2-27-20230811","first-page":"161","article-title":"A heredo-familial syndrome characterized by renal disease, inner ear deafness, and ocular changes","volume":"47","author":"Sohar","year":"1954","journal-title":"Harefuah"},{"key":"R3-27-20230811","first-page":"203","article-title":"Hereditary nephropathy (Alport syndrome): Correlation of clinical data with glomerular basement membrane alterations","volume":"13","author":"Rumpelt","year":"1980","journal-title":"Clin Nephrol"},{"key":"R4-27-20230811","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1093\/ndt\/11.supp7.21","article-title":"Report on management of renal failure in Europe, XXVI: 1995. The child\u2013adult interface: A report on Alport's syndrome, 1975\u20131993. The ERA-EDTA Registry","volume":"11","author":"Rigden","year":"1996","journal-title":"Nephrol Dial Transplant"},{"key":"R5-27-20230811","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/S0140-6736(88)90753-2","article-title":"Genetics of classic Alport's syndrome","volume":"2","author":"Flinter","year":"1988","journal-title":"Lancet"},{"key":"R6-27-20230811","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1093\/ndt\/gfl472","article-title":"Hearing in renal failure","volume":"21","author":"Thodi","year":"2006","journal-title":"Nephrol Dial Transplant"},{"key":"R8-27-20230811","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","article-title":"X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males","volume":"11","author":"Jais","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"R9-27-20230811","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1046\/j.1523-1755.1999.00357.x","article-title":"Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin","volume":"55","author":"Van Der Loop","year":"1999","journal-title":"Kidney Int"},{"key":"R10-27-20230811","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1159\/000059891","article-title":"X\u2013linked Alport syndrome with normal distribution of collagen IV alpha chains in epidermal basement membranes","volume":"122","author":"Naito","year":"1997","journal-title":"Contrib Nephrol"},{"key":"R12-27-20230811","doi-asserted-by":"crossref","first-page":"2291","DOI":"10.1681\/ASN.V9122291","article-title":"High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing","volume":"9","author":"Martin","year":"1998","journal-title":"J Am Soc Nephrol"}],"container-title":["Clinical Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01277230-201101000-00027","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T13:40:12Z","timestamp":1786369212000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01277230-201101000-00027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.2215\/cjn.00200110","relation":{},"ISSN":["1555-9041"],"issn-type":[{"value":"1555-9041","type":"print"}],"subject":[],"published":{"date-parts":[[2011,1]]}}}