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NDT Advance Access published online on February 9, 2009
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfp014
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© The Author [2009]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood

Stanislas Faguer1,2, Adèle Pillet3, Nicolas Chassaing4, Marion Merhenberger3, Pauline Bernadet-Monrozies3, Joëlle Guitard1 and Dominique Chauveau1,2

1 Service de Néphrologie et Immunologie clinique et Centre de référence des maladies rénales rares, CHU Rangueil 2 INSERM unite 563, CHU Purpan 3 Service de Néphrologie, HTA, dialyse et Transplantation multi-organe, CHU Rangueil 4 Service de Génétique médicale, CHU Purpan, Toulouse, France

Correspondence and offprint requests to: Dominique Chauveau, Service de Néphrologie et Immunologie clinique, Hôpital de Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9, France. Tel: +33-5-6132-3282/79; Fax: +33-5-6132-2775; E-mail: chauveau.d{at}chu-toulouse.fr



  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.

Conclusion. Regular assessment of glomerular filtration rate is mandatory throughout life in all TBS patients.

Keywords: adulthood; kidney development; nephropathy; SALL1; Townes-Brockes syndrome

Received for publication: 12. 9.08
Accepted in revised form: 7. 1.09


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