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.


Keywords


LCAT Deciency, ESRD, HDL cholesterol, Lipoprotein metabolism disorder

Full Text:

PDF

References


Muthusethupathi MA, Padmanabhan R, Date A, Jayakumar M, Rajendran S,

Vijayakumar R. Familial Lecithin:cholesterol acyltransferase deficiency with

renal failure in two siblings. First case report from India. Nephron. 1999

Jan;81(1):89-93.

Klein HG, Lohse P, Pritchard PH, Bojanovski D, Schmidt H, Brewer HB Jr. Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met) J Clin Invest. 1992;89(2):499–506.

Jonas A. Lecithin-cholesterol acyltransferase in the metabolism of high-density lipoproteins. Biochim Biophys Acta. 1991;1084:205–20

Ohta Y, Yamamoto S, Tsuchida H, Murano S, Saitoh Y, Tohjo S, et al. Nephropathy of familial lecithincholesterol acyltransferase deficiency: report of a case. Am J Kidney Dis 1986; 7:41–46

Jimi S, Uesugi N, Saku K, et al. Possible induction of renal dysfunction in patients with lecithin:cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli. Arteriosler Thromb Vasc Biol 1999; 19:794–801


Refbacks

  • There are currently no refbacks.