Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment

• Published in: Pediatric research Vol. 68; no. 2; pp. 91 - 98
• Main Authors: Cain, Jason E, Di Giovanni, Valeria, Smeeton, Joanna, Rosenblum, Norman D
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.08.2010; Lippincott Williams & Wilkins
• Subjects: Animals; Biological and medical sciences; Cell Differentiation; Cell Lineage; Cell Survival; Environment; Female; Humans; Kidney - abnormalities; Kidney - anatomy & histology; Kidney - embryology; Kidney Diseases - etiology; Kidney Diseases - genetics; Kidney Diseases - pathology; Kidneys; Malformations of the urinary system; Medical sciences; Medicine; Medicine & Public Health; Mesoderm - anatomy & histology; Mesoderm - physiology; Mutation; Nephrology. Urinary tract diseases; Nephrons - abnormalities; Nephrons - anatomy & histology; Nephrons - embryology; Pediatric Surgery; Pediatrics; Pregnancy; Prenatal Exposure Delayed Effects; review; Stem Cells - cytology; Stem Cells - physiology; Stromal Cells - cytology; Stromal Cells - physiology; Ureter - cytology; Kidney disease; Human; Pediatrics; Urinary system disease; Pathogenesis; Rodentia; Kidney hypoplasia; Review; Congenital disease; Vertebrata; Mammalia; Mouse; Malformation; Animal; Development; Nephron; Genetics
• ISSN: 0031-3998; 1530-0447
• DOI: 10.1203/PDR.0b013e3181e35a88

Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies performed in humans and mutant mice have implicated a number of critical genes, in utero environmental factors and molecular mechanisms that regulate nephron endowment and kidney size. Here, we review current knowledge regarding the genetic contributions to renal hypoplasia with particular emphasis on the mechanisms that control nephron endowment in humans and mice.