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Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood
Stanislas Faguer1, Adèle Pillet, Nicolas Chassaing
1Service de Néphrologie et Immunologie clinique, Hôpital de Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9, France.
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.
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