title: Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.
abstract: BACKGROUND
  Townes-Brocks syndrome (TBS) is a rare autosomal dominant disease, resulting from mutation in the developmental gene SALL1. The phenotype encompasses malformations of limbs (triphalangeal thumbs and pre-axial polydactyly), intestine (anal stenosis) and ears (dysplastic ear with perception hearing loss). Renal involvement (hypo-dysplasia, multicystic kidneys or unilateral absence) is observed in almost half of patients and may progress to end-stage renal failure in childhood.
  
  
  METHODS
  Herein, we report two adult patients diagnosed with TBS at age 28 and 35.
  
  
  RESULTS
  Both exhibited severe chronic renal failure and kidney hypodysplasia by imaging studies while focal and segmental glomerulosclerosis (FSGS) was demonstrated in one case.
  
  
  CONCLUSIONS
  Regular assessment of glomerular filtration rate is mandatory throughout life in all TBS patients.
authors.affiliation: Service de Néphrologie et Immunologie clinique, Hôpital de Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9, France.
authors.forename: Stanislas
authors.initials: S
authors.lastname: Faguer
authors.forename: Adèle
authors.initials: A
authors.lastname: Pillet
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.forename: Marion
authors.initials: M
authors.lastname: Merhenberger
authors.forename: Pauline
authors.initials: P
authors.lastname: Bernadet-Monrozies
authors.forename: Joëlle
authors.initials: J
authors.lastname: Guitard
authors.forename: Dominique
authors.initials: D
authors.lastname: Chauveau
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D005919:Glomerular Filtration Rate; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008297:Male; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C104146:SALL1 protein, human; D014157:Transcription Factors