A case of congenital nephrotic syndrome associated with partial deficiency of lecithin cholesterol acyltransferase (LCAT) and hypothyroidism.
The case of a 3 year-old boy with congenital nephrotic syndrome is reported, in whom decreased LCAT activity and hypothyroidism were also present. Renal biopsy confirmed a diffuse proliferative glomerulonephritis with a large number of foam cells in the capillary lumen of the glomerulus and the interstitium, which stained positively with acid phosphatase indicating the presence of macrophage with phagocyted lipid vacuole. The histological picture was similar to that of familial LCAT deficiency, but the reported case is one of secondary LCAT deficiency as a result of urinary loss of the enzyme. Replacement therapy with thyroid hormones resulted in improvement in growth and development.
D002675:Child, Preschool; D006801:Humans; D006949:Hyperlipidemias / Q000209:etiology; D007009:Hypolipoproteinemias / Q000209:etiology*; D007037:Hypothyroidism / Q000209:etiology*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000209:etiology*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D009404:Nephrotic Syndrome / Q000150:complications / Q000151:congenital*; D011507:Proteinuria / Q000209:etiology; D012709:Serum Albumin / Q000378:metabolism
D008074:Lipoproteins; D012709:Serum Albumin