title: Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?
abstract: Though uncommon, kidney malformations are described in several cases of Townes-Brocks syndrome. By contrast, kidney failure has been reported as the presenting feature of Townes-Brocks syndrome on only one occasion. While the SALL1 gene, mutations of which result in the Townes-Brocks phenotype, is expressed in the developing kidney, the absence of other corroborative reports of kidney failure presenting in affected individuals suggests that the solitary observation of kidney failure is as likely due to chance as to causal association. In now reporting a further instance of this association, we review the literature, demonstrating that several other instances of kidney failure are in fact known, despite an incomplete dataset. These findings suggest that kidney failure may be a constituent element of the natural history of Townes-Brocks syndrome and raise the possible benefits of longitudinal survey for progressive kidney impairment in patients with this syndrome.
authors.affiliation: National Centre for Medical genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. willie.reardon@olhsc.ie
authors.forename: William
authors.initials: W
authors.lastname: Reardon
authors.forename: Liam F
authors.initials: LF
authors.lastname: Casserly
authors.forename: Ralf
authors.initials: R
authors.lastname: Birkenhäger
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D016030:Kidney Transplantation; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D006435:Renal Dialysis; D051437:Renal Insufficiency / Q000235:genetics* / Q000601:surgery; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; C104146:SALL1 protein, human; D014157:Transcription Factors