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.