LECITHIN-CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

Question 1

LCAT arises from decreased serum LCAT activity because of mutations in?

Answer 1

LCAT gene

Question 2

What is the triad of LCAT deficiency?

Answer 2

1. NEPHROTIC SYNDROME
2. ANEMIA
3. CORNEAL OPACITIES

Question 3

What disease results from a partial deficiency of LCAT and presents with corneal disease and without renal manifestations?

Answer 3

FISH EYE DISEASE

Question 4

What is the LM findings in LCAT?

Answer 4

1. thickened glomerular capillary walls
2. mesangial expansion
3. Basement membranes are irregular and contain vacuoles, resembling stage 3 membranous alterations
4. vacuoles in the mesangium impart a honeycomb appearance

Question 5

What is the findings in LCAT in IF?

Answer 5

negative staining for all immunoglobulin and complement components

Question 6

What are the EM findings in LCAT deficiency?

Answer 6

Vacuolated areas seen by LM correspond to extracellular irregular lucent zones (lacunae) in the mesangial matrix and GBM containing lipid inclusions

Question 7

Patients with LCAT deficiency has high levels of these 2 compounds

Answer 7

1. phosphatidylcholine
2. unesterified cholesterol