title: Ultrasound findings in juvenile nephronophthisis.
abstract: The ultrasound finding of renal medullary cysts associated with increased echogenicity has been suggested to be diagnostic of juvenile nephronophthisis. The lack of cysts in several of our patients with juvenile nephronophthisis lead us to review the ultrasound findings at presentation in our patient population. Of 11 children with the diagnosis of juvenile nephronophthisis, 10 demonstrated increased echogenicity with loss of corticomedullary differentiation on initial ultrasound. Only 2 children had a single cyst each. On follow-up ultrasound, 2, 4.5, and 7 years later, 3 patients developed visible renal cysts. We conclude that at presentation the ultrasound finding consistent with the diagnosis of juvenile nephronophthisis is most often that of hyperechogenic kidneys without cysts; namely the lack of cysts does not rule out the diagnosis of juvenile nephronophthisis.
authors.affiliation: Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, Missouri 64108, USA.
authors.forename: D L
authors.initials: DL
authors.lastname: Blowey
authors.forename: U
authors.initials: U
authors.lastname: Querfeld
authors.forename: D
authors.initials: D
authors.lastname: Geary
authors.forename: B A
authors.initials: BA
authors.lastname: Warady
authors.forename: U
authors.initials: U
authors.lastname: Alon
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging; D007676:Kidney Failure, Chronic / Q000000981:diagnostic imaging; D007679:Kidney Medulla / Q000000981:diagnostic imaging; D008297:Male; D014463:Ultrasonography