{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:21:12Z","timestamp":1787023272735,"version":"build-2736575974"},"reference-count":18,"publisher":"Tohoku University Medical Press","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tohoku J. Exp. Med."],"published-print":{"date-parts":[[2020]]},"DOI":"10.1620\/tjem.252.9","type":"journal-article","created":{"date-parts":[[2020,8,18]],"date-time":"2020-08-18T18:07:28Z","timestamp":1597774048000},"page":"9-14","source":"Crossref","is-referenced-by-count":8,"title":["Management of a Preterm Infant with Renal Tubular Dysgenesis: A Case Report and Review of the Literature"],"prefix":"10.1620","volume":"252","author":[{"given":"Tomomi","family":"Kondoh","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Fujita Health University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Kawai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fujita Health University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fujita Health University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naonori","family":"Kumagai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fujita Health University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Miyata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fujita Health University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Aichi Children\u2019s Health and Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Hibino","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Aichi Children\u2019s Health and Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoya","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Aichi Children\u2019s Health and Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohei","family":"Ikezumi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fujita Health University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"622","reference":[{"key":"1","unstructured":"Allanson, J.E., Pantzar, J.T. &amp; MacLeod, P.M. (1983)  Possible new autosomal recessive syndrome with unusual renal histopathological changes.  <i>Am. J. Med. Genet.<\/i>, 16, 57-60."},{"key":"2","unstructured":"Bernstein, K.E., Ong, F.S., Blackwell, W.L., Shah, K.H., Giani, J.F., Gonzalez-Villalobos, R.A., Shen, X.Z., Fuchs, S. &amp; Touyz, R.M. (2013)  A modern understanding of the traditional and nontraditional biological functions of angiotensin-converting enzyme.  <i>Pharmacol. Rev.<\/i>, 65, 1-46."},{"key":"3","unstructured":"Bourchier, D. (2005)  Plasma aldosterone levels in the 1st week of life in infants of less than 30 weeks gestation.  <i>Eur. J. Pediatr.<\/i>, 164, 141-145."},{"key":"4","doi-asserted-by":"crossref","unstructured":"Danilov, S.M., Kalinin, S., Chen, Z., Vinokour, E.I., Nesterovitch, A.B., Schwartz, D.E., Gribouval, O., Gubler, M.C. &amp; Minshall, R.D. (2010)  Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain.  <i>PLoS One<\/i>, 5, e10438.","DOI":"10.1371\/journal.pone.0010438"},{"key":"5","doi-asserted-by":"crossref","unstructured":"Fila, M., Morini\u00e8re, V., Eckart, P., Terzic, J., Gubler, M.C., Antignac, C. &amp; Heidet, L. (2020)  Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.  <i>Pediatr. Nephrol.<\/i>, 35, 1125-1128.","DOI":"10.1007\/s00467-020-04524-4"},{"key":"6","unstructured":"Gribouval, O., Morini\u00e8re, V., Pawtowski, A., Arrondel, C., Sallinen, S.L., Saloranta, C., Clericuzio, C., Viot, G., Tantau, J., Blesson, S., Cloarec, S., Machet, M.C., Chitayat, D., Thauvin, C., Laurent, N., et al. (2012)  Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.  <i>Hum. Mutat.<\/i>, 33, 316-326."},{"key":"7","unstructured":"Gubler, M.C. (2014)  Renal tubular dysgenesis.  <i>Pediatr. Nephrol.<\/i>, 29, 51-59."},{"key":"8","unstructured":"Harmer, D., Gilbert, M., Borman, R. &amp; Clark, K.L. (2002)  Quantitative mRNA expression profiling of ACE 2, a novel homologue of angiotensin converting enzyme.  <i>FEBS Lett.<\/i>, 532, 107-110."},{"key":"9","unstructured":"Hibino, S., Sasaki, H., Abe, Y., Hojo, A., Uematsu, M., Sekine, T. &amp; Itabashi, K. (2015)  Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts.  <i>Pediatr. Nephrol.<\/i>, 30, 357-360."},{"key":"10","unstructured":"Kim, S.Y., Kang, H.G., Kim, E.K., Choi, J.H., Choi, Y. &amp; Cheong, H.I. (2012)  Survival over 2 years of autosomal-recessive renal tubular dysgenesis.  <i>Clin. Kidney J.<\/i>, 5, 56-58."},{"key":"11","unstructured":"Matsusaka, T., Miyazaki, Y. &amp; Ichikawa, I. (2002)  The renin angiotensin system and kidney development.  <i>Annu. Rev. Physiol.<\/i>, 64, 551-561."},{"key":"12","unstructured":"Mattei, M.G., Hubert, C., Alhenc-Gelas, F., Roeckel, N., Corvol, P. &amp; Soubrier, F. (1989)  Angiotensin-I converting enzyme gene is on chromosome-17.  Cytogenet. <i>Cell. Genet.<\/i>, 51, 1041-1045."},{"key":"13","unstructured":"Richer, J., Daoud, H., Geier, P., Jarinova, O., Carson, N., Feberova, J., Ben Fadel, N., Unrau, J., Bareke, E., Khatchadourian, K., Bulman, D.E., Majewski, J., Boycott, K.M. &amp; Dyment, D.A. (2015)  Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.  <i>Am. J. Med. Genet. A<\/i>, 167, 1654-1658."},{"key":"14","unstructured":"Ruf, K., Wirbelauer, J., Beissert, A. &amp; Frieauff, E. (2018)  Successful treatment of severe arterial hypotension and anuria in a preterm infant with renal tubular dysgenesis: a case report.  <i>Matern. Health Neonatol. Perinatol.<\/i>, 4, 27."},{"key":"15","unstructured":"Schreiber, R., Gubler, M.C., Gribouval, O., Shalev, H. &amp; Landau, D. (2010)  Inherited renal tubular dysgenesis may not be universally fatal.  <i>Pediatr. Nephrol.<\/i>, 25, 2531-2534."},{"key":"16","unstructured":"Uematsu, M., Sakamoto, O., Nishio, T., Ohura, T., Matsuda, T., Inagaki, T., Abe, T., Okamura, K., Kondo, Y. &amp; Tsuchiya, S. (2006)  A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.  <i>Am. J. Med. Genet. A<\/i>, 140, 2355-2360."},{"key":"17","unstructured":"Uematsu, M., Sakamoto, O., Ohura, T., Shimizu, N., Satomura, K. &amp; Tsuchiya, S. (2009)  A further case of renal tubular dysgenesis surviving the neonatal period.  <i>Eur. J. Pediatr.<\/i>, 168, 207-209."},{"key":"18","unstructured":"Zingg-Schenk, A., Bacchetta, J., Corvol, P., Michaud, A., Stallmach, T., Cochat, P., Gribouval, O., Gubler, M.C. &amp; Neuhaus, T.J. (2008)  Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.  <i>Eur. J. Pediatr.<\/i>, 167, 311-316."}],"container-title":["The Tohoku Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/252\/1\/252_9\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,21]],"date-time":"2020-08-21T23:44:34Z","timestamp":1598053474000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/252\/1\/252_9\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.1620\/tjem.252.9","relation":{},"ISSN":["0040-8727","1349-3329"],"issn-type":[{"value":"0040-8727","type":"print"},{"value":"1349-3329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}