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

Mahapatra HS, Ramanarayanan S, Gupta A, Bhardwaj M - Indian J Nephrol (2015 Nov-Dec)

Bottom Line: Kidney biopsy showed certain characteristic features to suggest LCAT deficiency, and the enzyme activity in the serum was undetectable.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Nephrology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India.

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.

No MeSH data available.


Related in: MedlinePlus

Pedigree chart of the family depicting the affected members of the family with lecithin-cholesterol acyltransferase deficiency or fish eye disease
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Figure 1: Pedigree chart of the family depicting the affected members of the family with lecithin-cholesterol acyltransferase deficiency or fish eye disease

Mentions: Familial lecithin-cholesterol acyltransferase deficiency (FLD) and fish eye disease (FED) are autosomal recessive disorders arising out of mutation in the LCAT gene, which encodes for the enzyme lecithin-cholesterol acyltransferase. Patients with classic FLD develop nephrotic syndrome progressing to end-stage renal disease (ESRD), corneal opacities, dyslipidemia and hemolytic anemia. FED is a milder form of the disease associated with corneal opacity and dyslipidemia. We report a family where one member was affected with classic FLD while two others were found to have FED [Figure 1].


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

Mahapatra HS, Ramanarayanan S, Gupta A, Bhardwaj M - Indian J Nephrol (2015 Nov-Dec)

Pedigree chart of the family depicting the affected members of the family with lecithin-cholesterol acyltransferase deficiency or fish eye disease
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4663774&req=5

Figure 1: Pedigree chart of the family depicting the affected members of the family with lecithin-cholesterol acyltransferase deficiency or fish eye disease
Mentions: Familial lecithin-cholesterol acyltransferase deficiency (FLD) and fish eye disease (FED) are autosomal recessive disorders arising out of mutation in the LCAT gene, which encodes for the enzyme lecithin-cholesterol acyltransferase. Patients with classic FLD develop nephrotic syndrome progressing to end-stage renal disease (ESRD), corneal opacities, dyslipidemia and hemolytic anemia. FED is a milder form of the disease associated with corneal opacity and dyslipidemia. We report a family where one member was affected with classic FLD while two others were found to have FED [Figure 1].

Bottom Line: Kidney biopsy showed certain characteristic features to suggest LCAT deficiency, and the enzyme activity in the serum was undetectable.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Nephrology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India.

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.

No MeSH data available.


Related in: MedlinePlus