RESUMO
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.
Assuntos
Falência Renal Crônica/diagnóstico , Falência Renal Crônica/genética , Fatores de Transcrição/genética , Anormalidades Múltiplas/genética , Adulto , Taxa de Filtração Glomerular , Humanos , Falência Renal Crônica/patologia , Masculino , SíndromeRESUMO
Renal disease is rare in children with juvenile idiopathic arthritis, although a number of associated nephropathies have been described, including mesangial glomerulonephritis. We report the presence of mesangial glomerulonephritis, revealed by a nephrotic syndrome, in a paediatric patient with juvenile idiopathic arthritis. Short-term steroid treatment induced a rapid remission of the nephrotic syndrome, but the presence of anti-nuclear antibodies, 1:320 in a homogeneous pattern, irregular deposits of C1q in a renal biopsy, and a mother with episodes of cutaneous lupus suggested an uncertain renal evolution for this infant.