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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

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
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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

Mentions: A 37-year-old male presented with progressive swelling of feet and facial puffiness for 6 months. On physical examination, he had mild pallor, moderate pedal edema and cloudy cornea with a peripheral arcus in both eyes [Figure 2].


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)

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
© Copyright Policy - open-access
Related In: Results  -  Collection

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

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
Mentions: A 37-year-old male presented with progressive swelling of feet and facial puffiness for 6 months. On physical examination, he had mild pallor, moderate pedal edema and cloudy cornea with a peripheral arcus in both eyes [Figure 2].

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