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Paper text:
genetic causes are also known and may be due to inherited defects in podocyte proteins or due to enzyme deficiency .
one such variety is ns due to deficiency of lecithin cholesterol acyl transferase ( lcat ) enzyme .
we report a case with nephrotic syndrome and cloudy cornea and foam cells and lipid deposits on renal biopsy .
a 28-year - old male presented with a history of frothy urine and swelling of feet of 2 months duration .
investigations showed urine specific gravity of 1.015 , protein 3 + , and blood 3 + .
twenty - four hour urine protein was 5732 mg . fasting blood sugar was 104 mg / dl , postprandial sugar 117 mg / dl , serum creatinine 1.1 mg / dl , sodium143 mmol / l , potassium 3.8 mmol / l , low - density lipoprotein cholesterol 59 mg / dl , triglycerides 253 mg / dl , total cholesterol 122 mg / dl , very - low - density lipoprotein 51 mg / dl and high - density lipoprotein ( hdl ) 12 mg / dl . ultrasound examination showed right kidney measuring 12.1  4.7 and left kidney measuring 12.2 cm  5.5 cm .
renal biopsy [ figure 2 ] showed enlarged glomeruli , with nodular deposits in the mesangium with irregularly thickened basement membrane , foam cell infiltrate of macrophages containing lipid material in capillaries and mesangial areas .
electron microscopy showed diffuse effacement of podocyte foot processes , capillary loop and mesangial regions were distended by electron lucent lipid material containing electron dense proteinaceous matrix suggestive of lcat deficiency .
there was partial remission of proteinuria with stable renal functions at 1-year follow - up .
cloudy cornea ( red arrow ) , arcus junvenilis ( black arrow ) ( a ) renal histology with foam cells in mesangium on light microscopy ( arrow ) ( h and e , 40 ) , ( b ) renal histology with electron dense mesangial deposits ( arrow )
the serum cholesterol levels were low which is unusual in a patient with nephrotic syndrome .
cloudy cornea may be a feature of other nephrotic states and isolated foam cells may be seen in other renal diseases with massive proteinuria .
however , the combination of nephrotic syndrome , cloudy cornea , foam cells with lipid deposits in glomeruli and very low serum hdl are typical of complete lcat deficiency .
deficiency of this enzyme leads to accumulation of unesterified cholesterol in the cornea leading to cloudy cornea and organomegaly .
partial deficiency leads to fish eye disease , which is characterized by cloudy cornea without any systemic involvement .
lcat deficiency is a rare autosomal recessive disorder caused by mutations in lcat gene on long arm of chromosome 16 .
hemolytic anemia , and lymphadenopathy have also been described but were not seen in our patient .
lcat enzyme supplementation is becoming available and may prevent end stage renal disease in such patients .
nephrotic syndrome can be rarely due to inherited disorders of enzymes . 
 one such variety is lecithin cholesterol acyltransferase deficiency . 
 it leads to accumulation of unesterified cholesterol in the eye and other organs . 
 we report a case of nephrotic syndrome with cloudy cornea and hypocholesterolemia with foam cells and lipid deposits on renal biopsy . 
 awareness about this rare disease may help in the early institution of specific measures to prevent progression to end - stage renal disease .