The Journal of the Association of Physicians of India · 2015
Tuberous Sclerosis and Polycystic Kidney Disease: A Rare Association.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Das Shyamashis, Bala Bapi Lal, Ray Achintya Narayan, Sherpa Pasang Lahmu, Kumar Rajiv Ranjan
Аннотация
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We report a 26-year-old female patient with TSC who presented with severe metabolic acidosis due to renal failure. She had palpable enlarged kidneys bilaterally. CT scan of abdomen revealed bilateral enlarged lobulated kidneys studded with multiple cysts which was consistent with the diagnosis of ADPKD.