{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:38:36Z","timestamp":1745469516327,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2010,12,8]],"date-time":"2010-12-08T00:00:00Z","timestamp":1291766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,12,8]],"date-time":"2010-12-08T00:00:00Z","timestamp":1291766400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron Clin Pract"],"abstract":"<jats:p>&lt;i&gt;Background\/Aims:&lt;\/i&gt; Current consensus supports the notion that proteinuria is a marker of renal disease with prognostic implications. Whereas most chronic kidney disease patients with proteinuria would often require antiproteinuric agents, there are some exceptions. Megaloblastic anemia type 1 (MGA1) is characterized by megaloblastic anemia due to congenital selective vitamin B&lt;sub&gt;12&lt;\/sub&gt; malabsorption and proteinuria. In the present study, we describe 2 Israeli Jewish patients with MGA1 and isolated proteinuria. &lt;i&gt;Methods:&lt;\/i&gt; Because of their origin, the patients were screened for the presence of the already studied Tunisian &lt;i&gt;AMN&lt;\/i&gt; mutation, by direct sequencing the corresponding region from genomic DNA. PCR products were purified and sequenced. &lt;i&gt;Results:&lt;\/i&gt; Genomic DNA sequencing of the &lt;i&gt;AMN&lt;\/i&gt; gene of both patients confirmed that the acceptor splice site in intron 3 was changed from CAG to CGG (208-2A\u2192G). &lt;i&gt;Conclusion:&lt;\/i&gt; We determined the molecular basis of MGA1 in both patients and discuss the involvement of the cubilin\/AMN complex in this pathology and its role in the development of the proteinuria. We also discuss the questionable significance of antiproteinuric treatment for these patients.<\/jats:p>","DOI":"10.1159\/000320391","type":"journal-article","created":{"date-parts":[[2010,12,14]],"date-time":"2010-12-14T13:20:39Z","timestamp":1292332839000},"page":"c67-c71","source":"Crossref","is-referenced-by-count":5,"title":["Molecular Study of Proteinuria in Patients Treated with B&lt;sub&gt;12&lt;\/sub&gt; Supplements: Do Not Forget Megaloblastic Anemia Type 1"],"prefix":"10.1159","volume":"118","author":[{"given":"Nomy","family":"Levin-Iaina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dganit","family":"Dinour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Morduchowicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liat","family":"Ganon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eli J.","family":"Holtzman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,12,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093%2Fqjmed%2Fhcn142"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.0954-6820.1960.tb03549.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136%2Fpgmj.57.670.509"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2F6831"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1098"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.272.42.26497"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20014"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.271.5255.1526"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI119411"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2F86912"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2003-08-2852"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1681%2FASN.2004110925"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038%2Fng2063"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10038-007-0110-0"}],"container-title":["Nephron Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/320391","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/320391","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:51:13Z","timestamp":1745437873000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000320391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,8]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2011,5,1]]},"published-print":{"date-parts":[[2011,5,24]]}},"URL":"https:\/\/doi.org\/10.1159\/000320391","archive":["Portico"],"relation":{},"ISSN":["1660-2110"],"issn-type":[{"type":"electronic","value":"1660-2110"}],"subject":[],"published":{"date-parts":[[2010,12,8]]}}}