title: Familial juvenile nephronophthisis. An ultrasonographic follow-up of seven patients.
abstract: OBJECTIVE
  To evaluate progressive US changes in the kidneys of patients with familial juvenile nephronophthisis (NPH), an autosomal recessive progressive kidney disease with polyuria, polydipsia, anemia and growth retardation.
  
  
  METHODS
  The data from 29 US investigations of 5 boys and 2 girls comprised findings relating to kidney size, echogenicity of the kidney parenchyma, visualization of the corticomedullary junction, and the parameters of renal cysts.
  
  
  RESULTS
  In the early stages of NPH, when the serum creatinine values were between 134 and 370 micromol/l, the corticomedullary differentiation was weak in 6 patients, the echogenicity of the kidney parenchyma was equal to or greater than that of the liver in 5 patients, and 6 patients had developed renal cysts. The findings became more intensive with the progression of NPH. The size of the kidneys remained normal in 4 patients.
  
  
  CONCLUSIONS
  Renal US reveals characteristic changes already in the early stages of NPH and should therefore be an important part of the diagnostics of NPH because no specific diagnostic test is as yet available.
authors.affiliation: Department of Medical Genetics, University of Helsinki, University Central Hospital, Finland.
authors.forename: S
authors.initials: S
authors.lastname: Ala-Mello
authors.forename: J
authors.initials: J
authors.lastname: Jääskeläinen
authors.forename: O
authors.initials: O
authors.lastname: Koskimies
mesh_terms: D000293:Adolescent; D002648:Child; D003404:Creatinine / Q000097:blood; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009399:Nephrons / Q000000981:diagnostic imaging; D010375:Pedigree; D017044:Polycystic Kidney, Autosomal Recessive / Q000097:blood / Q000000981:diagnostic imaging* / Q000235:genetics; D051437:Renal Insufficiency / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology; D014463:Ultrasonography
chemical_list: D003404:Creatinine