Open AccessCo-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family
Author(s) -
HS Mahapatra,
Sivaramakrishnan Ramanarayanan,
Gupta Ak,
Minakshi Bhardwaj
Publication year - 2015
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/0971-4065.157802
Subject(s) - medicine , proband , nephrotic syndrome , lecithin , dyslipidemia , sterol o acyltransferase , family history , disease , cholesterol , mutation , endocrinology , genetics , gene , biochemistry , biology , lipoprotein
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.