title: Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family.
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.
authors.affiliation: Department of Nephrology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: H S
authors.initials: HS
authors.lastname: Mahapatra
authors.affiliation: Department of Nephrology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: S
authors.initials: S
authors.lastname: Ramanarayanan
authors.affiliation: Department of Nephrology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: A
authors.initials: A
authors.lastname: Gupta
authors.affiliation: Department of Nephrology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: M
authors.initials: M
authors.lastname: Bhardwaj
keywords: Corneal opacity; dyslipidemia; lecithin-cholesterol acyltransferase; nephrotic syndrome