Towne Brocks Syndrome Presenting as ESKD

Introduction: Townes Brocks Syndrome (TBS) is rare autosomal dominant disorder with multiple organ involvement with mutation of SALL1 on chromosome 16q12.1. Cardiac and renal abnormalities have been reported infrequently.We present one case with TBS who presented with end stage renal disease. Mutation analysis showed de novo mutation in the SALL1 gene. Case Description: Proband,15 years old female presented with anasarca and decreased appetite. She has history of imperforate anus for which operated on 3rd year of life. No significant history in grandparents, parents, siblings. On examination, growth retardation, ear anomaly (overfolding of superior helix of left ear and pre-auricular tag), thumb anomaly (rudimentary Right thumb), flat foot, toe anomaly, atrial septal defect, bilateral sensorineural hearing loss were present.Investigation showed anemia with raised urea and serum creatinine. USG showed both small sized kidneys.Genetic testing confirmed diagnosis with heterozygous nonsense variation of SALL 1gene. Geneting screening of both parents were normal. She was initiated on hemodialysis for renal dysfunction. Discussion: Malformations related to TBS are usually diagnosed in the neonatal period and less known by adult specialists.Renal anomalies,including functional and structural abnormalities has been resported in 43% of patients. In this case report, typical extra renal manifestations led us to genetic testing and confirming diagnosis of TBS , but uremia was the first symptom to prompt the proband to visit the hospital.Sanger sequencing