title: Congenital anomalies of the kidney and urinary tract: an embryogenetic review.
abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a broad range of disorders that result from abnormalities of the urinary collecting system, abnormal embryonic migration of the kidneys, or abnormal renal parenchyma development. These disorders are commonly found in humans, accounting for 20-30% of all genetic malformations diagnosed during the prenatal period. It has been estimated that CAKUT are responsible for 30-50% of all children with chronic renal disease worldwide and that some anomalies can predispose to adult-onset diseases, such as hypertension. Currently, there is much speculation regarding the pathogenesis of CAKUT. Common genetic background with variable penetrance plays a role in the development of the wide spectrum of CAKUT phenotypes. This review aims to summarize the possible mechanisms by which genes responsible for kidney and urinary tract morphogenesis might be implicated in the pathogenesis of CAKUT.
authors.affiliation: National Institute of Science and Technology-Molecular Medicine (INCT-MM), Universidade Federal de Minas Gerais (UFMG), Brazil.
authors.forename: Augusto Cesar Soares
authors.initials: AC
authors.lastname: dos Santos Junior
authors.forename: Debora Marques
authors.initials: DM
authors.lastname: de Miranda
authors.forename: Ana Cristina
authors.initials: AC
authors.lastname: Simões e Silva
mesh_terms: D000328:Adult; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000196:embryology; D014551:Urinary Tract / Q000002:abnormalities* / Q000196:embryology; D014564:Urogenital Abnormalities / Q000196:embryology / Q000235:genetics* / Q000473:pathology*
keywords: CAKUT; chronic kidney disease; morphogenesis; polymorphisms