{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:49:17Z","timestamp":1791229757327,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T00:00:00Z","timestamp":1647216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Autosomal\u2010recessive renal tubular dysgenesis (AR\u2010RTD) is a rare genetic disorder caused by defects in the renin\u2010angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence. Although the most common outcome is neonatal death from renal failure, pulmonary hypoplasia, and\/or refractory arterial hypotension; several cases have been reported that describe survival past the neonatal period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Herein, we report the first family with biallelic\n                      <jats:italic>ACE<\/jats:italic>\n                      variants and more than one affected child surviving past the neonatal period, as well as provide a review of the previously reported 18 cases with better outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      While both siblings with identical compound heterozygous\n                      <jats:italic>ACE<\/jats:italic>\n                      variants have received different treatments, neither required renal replacement therapy. We show that both vasopressin and fludrocortisone in the neonatal period may provide survival advantages, though outcomes may also be dependent on the type of gene variant, as well as other factors.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>While AR\u2010RTD is most often a lethal disease in the neonatal period, it is not universally so. A better understanding of the factors affecting survival will help to guide prognostication and medical decision\u2010making.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1920","type":"journal-article","created":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T10:12:33Z","timestamp":1647252753000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Expanding the clinical spectrum of autosomal\u2010recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4345-6094","authenticated-orcid":false,"given":"Krista M.","family":"Vincent","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"},{"name":"University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afrah","family":"Alrajhi","sequence":"additional","affiliation":[{"name":"University of Ottawa  Ottawa Ontario Canada"},{"name":"Department of Obstetrics and Gynecology Ottawa General Hospital  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2709-5049","authenticated-orcid":false,"given":"Joanna","family":"Lazier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"},{"name":"University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Bonin","sequence":"additional","affiliation":[{"name":"University of Ottawa  Ottawa Ontario Canada"},{"name":"Department of Obstetrics and Gynecology Ottawa General Hospital  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Lawrence","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Weiler","sequence":"additional","affiliation":[{"name":"University of Ottawa  Ottawa Ontario Canada"},{"name":"Department of Pediatrics Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Armour","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"},{"name":"Prenatal Screening Ontario (PSO) Better Outcomes Registry &amp; Network (BORN) Ontario  Ottawa Ontario Canada"},{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430512"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160110"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcped.2007.04.012"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1124\/pr.112.006809"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2010.30"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010438"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020854"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2020.11.033"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-020-04524-4"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1623"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21661"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-014-3007-0"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndtplus\/sfr153"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2003-0150"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-006-0311-3"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37270"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-019-04437-x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40748-018-0095-z"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.6064\/2012\/949164"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1584-0"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-200609000-00026"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31448"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0743-9"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0492-1"}],"container-title":["Molecular Genetics &amp; 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