A molecular and genetic view of human renal and urinary tract malformations

摘要: Malformations of the kidney and lower urinary tract are common causes chronic renal failure in infants young children, but little is known about molecular pathogenesis these disorders. In animal experiments, main malformation mutations, chemical pharmaceutical teratogens, obstruction fetal flow, alterations maternal nutrition. The focus this review to consider how mutations other gene expression during development cause human malformations. Some disorders associated with congenital anomalies multiple organ systems, two such syndromes considered detail: first, renal-coloboma syndrome, which PAX2 transcription factor partial growth; second, Kallmann's a cell-signaling molecule absence tract. patients seen by nephrologists urologists, however, most malformations occur isolation, some individuals, genetic strongly suggested positive family history linkage studies. One example primary vesicoureteric reflux. Furthermore, sporadic have been shown be polymorphisms genes expressed construction long term, an understanding aspects will help unravel may facilitate design screening tests view early diagnosis.