Figure 37

Radiography of nail-patella syndrome. The skeletal manifestations of nail-patella syndrome are characteristic and consist of absent patella and absent and dystrophic nails. These photographs illustrate absent patella (A) and the characteristic nail changes (B) that occur in patients with the disorder. (From Gregory and Atkin [2]; with permission.)

FIGURE 3-8 (see Color Plate)

Lecithin-cholesterol acyl transferase deficiency. Lipid accumulation occurs in this hereditary metabolic disorder, especially in extracellular sites throughout glomerular basement membranes and the mesangial matrix. A, On electron microscopy the lipid appears as multiple small lacunae, often with small round dense granular or membranous structures (arrows). Lipid-containing monocytes may be in the capillary lumina. B, The mesangial regions are widened on light microscopy, usually with expansion of the matrix that stains less intensely than normal. Basement

FIGURE 3-9 (see Color Plate)

Lipoprotein glomerulopathy. Patients with this rare disease, which often is sporadic (although some cases occur in the same family), exhibit massive proteinuria. Lipid profiles are characterized by increased plasma levels of cholesterol, triglycerides, and very low density lipoproteins. Most patients have heterozygosity for apolipoprotein E2/3 or E2/4. A, The glomeruli are the sites of massive intracapillary accumulation of lipoproteins, which appear as slightly tan masses (thrombi) dilating capillaries (arrows). Segmental

membranes are irregularly thickened. Some capillary lumina may contain foam cells. Although quite rare, this autosomal recessive disease has been described in most parts of the world; however, it occurs most commonly in Norway. Patients exhibit proteinuria, often with microscopic hematuria usually noted in childhood. Renal insufficiency may develop in the fourth or fifth decade of life and may progress rapidly. Nonrenal manifestations include corneal opacification, hemolytic anemia, early atherosclerosis, and sea-blue histocytes in the bone marrow and spleen.

mesangial hypercellularity or mesangiolysis may be present. With immunostaining for ^-lipoprotein, apolipoproteins E and B are identified in the luminal masses. B, Electron microscopic findings indicate the thrombi consist of finely granular material with numerous vacuoles (lipoprotein). Lipoprotein glomerulopathy may progress to renal insufficiency over a long period of time. Recurrence of the lesions in a transplanted organ has been reported infrequently. Lipid-lowering agents are mostly ineffective.

FIGURE 3-10 (see Color Plate)

Nephropathy cystinosis. In older children and young adults, compared with young children, patients with cystinosis commonly exhibit glomerular involvement rather than tubulointerstitial disease. Proteinuria and renal insufficiency are the typical initial manifestations. A, As the most constant abnormality on light microscopy, glomeruli

have occasionally enlarged and multinucleated visceral epithelial cells (arrow). As the disease progresses, segmental sclerosis becomes evident as in the photomicrograph. B, Crystalline inclusions are identified on electron microscopy. The crystals of cysteine are usually dissolved in processing, leaving an empty space as shown here by the arrows.

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