RARE CAUSE OF END STAGE RENAL DISEASE– LCAT deficiency

Dr. Srilatha V; Dr. Sadhna Sharma; Dr. M Divya Vani; Dr. M Shiv Shankar

Volume : X, Issue : II, February - 2020

RARE CAUSE OF END STAGE RENAL DISEASE– LCAT deficiency

Dr. Srilatha V, Dr. Sadhna Sharma, Dr. M Divya Vani, Dr. M Shiv Shankar

Abstract :

LCAT deficiency is a disorder of lipoprotein metabolism occurring due to mutation of LCAT gene located on 16q22.1. It is a very rare disorder with only 70 reported cases of familial LCAT deficiency and only 30 cases of partial LCAT deficiency. This is a rare case of LCAT deficiency, which presented as ESRD.A 28–year–old female diagnosed with ESRD 2 years earlier and already on treatment, referred for renal transplantation. On examination B/L corneal opacities, pallor and pedal edema were present. Patient had proteinuria and HDL <10mg/dl and resistant anemia. Renal biopsy showed deposit glomerulopathy with foam cells. Genetic analysis was done which showed LCAT deficiency. Supportive and symptomatic treatment initiated. She was enrolled for cadaver transplantation in view of recurrence.