Recent insights into kidney diseases associated with glomerular cysts.
Glomerular cysts can exist in the context of several different kidney diseases. Advances in the last few years have begun to unravel the genetic bases and pathogenesis of some of these entities, many of which have an origin in abnormal development. In this review, we highlight recent insights into three types of disease associated with glomerular cysts: (1) mutations of the hepatocyte nuclear factor 1beta (HNF-1beta)in the recently described renal cysts and diabetes syndrome, (2) mutations of OFD1in the oral facial digital syndrome type 1 and (3) the role of fetal urinary tract obstruction.
Woolf
Adrian S
AS
Nephro-Urology Unit, Room 219, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. a.woolf@ich.ucl.ac.uk
Feather
Sally A
SA
Bingham
Coralie
C
D000015:Abnormalities, Multiple / Q000235:genetics; D003560:Cysts / Q000150:complications* / Q000209:etiology; D004268:DNA-Binding Proteins / Q000235:genetics; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005315:Fetal Diseases; D005385:Fingers / Q000002:abnormalities; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000209:etiology* / Q000235:genetics*; D007678:Kidney Glomerulus; D009056:Mouth Abnormalities / Q000235:genetics; D009154:Mutation / Q000502:physiology; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D014570:Urologic Diseases / Q000150:complications / Q000196:embryology
D004268:DNA-Binding Proteins; C496495:HNF1B protein, human; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta