LSUHSC Renal Pathology Consultative Services - Case Study #  3

Case Study #:

Clinical History:  2007 0307 Twelve-year old with nephrotic syndrome and mild renal insufficiency Serun creatitine = 1.3 mg/dl Urinalysis:         4+ protein (6.2 gm/24 hrs)                         no rbcs                         no cellular casts Cholesterol = 420mg/dl Trigylerides = 285 mg/dl Complements = normal ANA negative

Click for larger Figure 1:   On H&E stain the glomerular architecture is indistinct. However, there is no hypercellularity or sclerosis   Click for larger Figure 2:   On PAS stain the mesangium has a bubbly appearance. Note: The IF was completely negative.   Click for larger Figure 3:   EM: The capillary basement membranes are normal and no capillary loop deposits are present. The mesangial matrix is prominently expanded and contain numerous clear vacuoles   Figure 4:   EM: The matrix is modified by clear vacuoles; some contain a small quantity of electron dense material   Question: What general category of renal diseases is present? What was in (now largely extracted) the mesangium? What is your diagnosis? Answer:   Diagnosis: 1. Renal lipidoses 2. Lipid 3. Lecithin-cholesterol acyl transferase deficiency (LCAT deficiency)  Discussion: There are 3 major lipidoses. All are very rare. LCAT deficiency Lipoprotein glomerulopathy Type II hyperlipoproteinemia (familial dysbetalipoproteinemia) LCAT deficiency is a rare (only the second case I’ve seen) autosomal recessive defect in the esterification of plasma cholesterol. Markedly elevated levels of cholesterol, triglycerides, and phosphatidylcholine led to tissue deposition. HDL levels are low. The mutation of the LCAT gene has been identified on Chromosome 16q21-q22. Renal involvement occurs during childhood with proteinuria and culminates in renal failure after several decades, although progression is variable. Recurrence occurs in the transplant since there is no effective treatment of the lipidosis.   References: Am J Kid Dis 7:41, 1986. Mod Pathol 4:331, 1991. J Lipid Res 38:91, 1997. Nephrol Dial Transplant 12:2430, 1997.

Stephen M. Bonsib, MD  (Dr Bonsib's Bio)

Chairman Pathology

Director, Renal Pathology Consultative Services

Albert G. and Harriet G. Smith Professor of Pathology

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