title: Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.
abstract: BACKGROUND
  Tuberous sclerosis complex (TSC) involves frequently the kidneys. Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involvement in children affected by classical TSC or by the CGS and to verify whether it is possible to differentiate between both entities. The evolution of the lesions through time was also studied.
  
  
  METHODS
  55 cases of patients <16 years with STB were reviewed by two pediatric radiologists. Clinical data reviewed included age at diagnosis, genetic assessment and complications; US data reviewed included renal size, type of lesions (angiomyolipoma-AML, or cysts), number and location as well as their evolution with time. Complications were also analyzed.
  
  
  RESULTS
  30 patients (56 %) had at least one kidney lesion (27 classical TSC and 3 CGS). On the basis of the US findings, these patients were separated into four groups. Group 1 (9 patients) displayed microscopic (diffuse) AML; group 2 (3 patients) displayed macroscopic AML; group 3 (9 patients) displayed only renal cysts and group 4 (9 patients) displayed the association of AML and cysts. Increased renal size, the large number and size of cystic lesions were suggestive of the CGS. The isolated AML were suggestive of classical STB. The average growth of angiomyolipoma was low before age of 12 and exceeded 4 mm/year thereafter.
  
  
  CONCLUSIONS
  In children with TSC, renal involvement is common. Some US criteria can help to suggest the diagnosis of CGS. The growth of angiomyolipoma is slow before 12 years and accelerates thereafter. Complications are rare.
authors.affiliation: Department of Pediatric Imaging, Hôpital Jeanne de Flandre, Avenue Eugène Avinée, 59037, Lille Cedex, France. arthur.robert.lille@gmail.com.
authors.forename: Arthur
authors.identifier: http://orcid.org/0000-0002-0396-1240
authors.initials: A
authors.lastname: Robert
authors.affiliation: Department of Nephrology, Hôpital Jeanne de Flandre, Avenue Eugène Avinée, 59037, Lille Cedex, France.
authors.forename: Valerie
authors.initials: V
authors.lastname: Leroy
authors.affiliation: Department of Neuropediatrics, National Reference Center "Sclérose tubéreuse de Bourneville", CHRU Lille, Avenue Oscar Lambret, 59037, Lille Cedex, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Riquet
authors.affiliation: Department of Functional Testing of the Vision, CHRU-Lille, Avenue Oscar Lambret, 59037, Lille Cedex, France.
authors.forename: Lucile
authors.initials: L
authors.lastname: Gogneaux
authors.affiliation: Department of Pediatric Imaging, Hôpital Jeanne de Flandre, Avenue Eugène Avinée, 59037, Lille Cedex, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boutry
authors.affiliation: Department of Pediatric Imaging, Hôpital Jeanne de Flandre, Avenue Eugène Avinée, 59037, Lille Cedex, France.
authors.forename: Fred E
authors.initials: FE
authors.lastname: Avni
mesh_terms: D000293:Adolescent; D018207:Angiomyolipoma / Q000000981:diagnostic imaging* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology; D008297:Male; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D012189:Retrospective Studies; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D014463:Ultrasonography; D017624:WAGR Syndrome / Q000000981:diagnostic imaging* / Q000473:pathology
keywords: Angiomyolipoma; Children; Contiguous gene syndrome; Cysts; Renal involvement; Tuberous sclerosis complex