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Case Reports
. 2015 Nov-Dec;25(6):362-5.
doi: 10.4103/0971-4065.157802.

Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family

H S Mahapatra  1 , S Ramanarayanan  1 , A Gupta  1 , M Bhardwaj  1
Affiliations
Case Reports

Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family

H S Mahapatra et al. Indian J Nephrol. 2015 Nov-Dec.

Abstract

We report a family with a rare genetic disorder arising out of mutation in the gene that encodes for the enzyme lecithin-cholesterol acyltransferase (LCAT). The proband presented with nephrotic syndrome, hemolytic anemia, cloudy cornea, and dyslipidemia. Kidney biopsy showed certain characteristic features to suggest LCAT deficiency, and the enzyme activity in the serum was undetectable. Mother and younger sister showed corneal opacity and dyslipidemia but no renal or hematological involvement. These two members had a milder manifestation of the disease called fish eye disease. This case is presented to emphasize the importance of taking family history and doing a good clinical examination in patients with nephrotic syndrome and carefully analyze the lipid fractions in these subset of patients.

Keywords: Corneal opacity; dyslipidemia; lecithin-cholesterol acyltransferase; nephrotic syndrome.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Pedigree chart of the family depicting the affected members of the family with lecithin-cholesterol acyltransferase deficiency or fish eye disease
Figure 2
Figure 2
Clinical and histological images of the patient with lecithin-cholesterol acyltransferase (LCAT) deficiency. Panel a - Photograph showing the cloudy cornea of the patient characteristic of LCAT deficiency. Panel b - Photomicrograph of H and E, stained kidney biopsy specimen (×40) demonstrating mesangial expansion with thickening of glomerular capillary loops and vacuolization of basement membrane (solid arrow). Panel c - Photomicrograph of silver stained kidney biopsy specimen (×40) demonstrating thickened glomerular basement membrane
See this image and copyright information in PMC

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