A Rare Case of Tuberous Sclerosis with Autosomal  Dominant Polycystic Kidney Disease with Renal  Osteodystrophy

Dr Parinita Shinde; Dr Prachee Deshpande; Dr Shreepad Bhat; Dr Mahesh Sudke

Volume : III, Issue : IX, September - 2013

A Rare Case of Tuberous Sclerosis with Autosomal Dominant Polycystic Kidney Disease with Renal Osteodystrophy

Dr Parinita Shinde, Dr Prachee Deshpande, Dr Shreepad Bhat, Dr Mahesh Sudke

Abstract :

Although different diseases, Tuberous Sclerosis Complex (TSC) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) have been seen in association, the molecular basis of this being the proximity of tuberous sclerosis complex 2 and polycystic kidney disease 1 genes on the same chromosome(16p13.3) Therefore, the classic autosomal dominant polycystic kidney disease renal phenotype may occur in the context of tuberous sclerosis complex disease as a result of large deletions involving both the polycystic kidney disease 1 and tuberous sclerosis complex 2 genes. This is known as the tuberous sclerosis complex 2/autosomal dominant polycystic kidney disease 1 contiguous gene syndrome (1) We report a case of a 30 year old female presenting with lower limb weakness as a result of renal osteodystrophy due to severe polycystic kidney disease in association with tuberous sclerosis but without evidence of neurological involvement which is the most common presentation of tuberous sclerosis.