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