{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:46:47Z","timestamp":1790819207491,"version":"4.1.0"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and objectives<\/jats:title>\n                    <jats:p>\n                      Congenital anomalies of the kidney and urinary tract (CAKUT) are a frequent cause of renal failure in children, and their detection\n                      <jats:italic toggle=\"yes\">in utero<\/jats:italic>\n                      is now common with fetal screening ultrasonography. The clinical course of CAKUT detected before birth is very heterogeneous and depends on the level of nephron reduction. The most severe forms cause life-threatening renal failure, leading to perinatal death or the need for very early renal replacement therapy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design, setting, participants, &amp; measurements<\/jats:title>\n                    <jats:p>\n                      This study reports the screening of two genes (\n                      <jats:italic toggle=\"yes\">HNF1B<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">PAX2<\/jats:italic>\n                      ) involved in monogenic syndromic CAKUT in a cohort of 103 fetuses from 91 families with very severe CAKUT that appeared isolated by fetal ultrasound examination and led to termination of pregnancy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      This study identified a disease-causing mutation in\n                      <jats:italic toggle=\"yes\">HNF1B<\/jats:italic>\n                      in 12 cases from 11 families and a mutation in\n                      <jats:italic toggle=\"yes\">PAX2<\/jats:italic>\n                      in 4 unrelated cases. Various renal phenotypes were observed, but no case of bilateral agenesis was associated with\n                      <jats:italic toggle=\"yes\">HNF1B<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">PAX2<\/jats:italic>\n                      mutations. Autopsy identified extrarenal abnormalities not detected by ultrasonography in eight cases but confirmed the absence of extrarenal defects in eight other cases. A positive family history of renal disease was not significantly more frequent in cases with an identified mutation. Moreover, in cases with an inherited mutation, there was a great phenotypic variability regarding the severity of the renal disease within a single family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our results suggest that mutations in genes involved in syndromic CAKUT with Mendelian inheritance are not rare in fetal cases with severe CAKUT appearing isolated at prenatal ultrasound, a finding of clinical importance because of genetic counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2215\/cjn.10221012","type":"journal-article","created":{"date-parts":[[2013,3,29]],"date-time":"2013-03-29T00:56:31Z","timestamp":1364518591000},"page":"1179-1187","source":"Crossref","is-referenced-by-count":106,"title":["Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 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