Human liver pathology in peroxisomal diseases: a review including novel data.
Results from electron microscopic morphometry, enzyme cytochemistry and immunolocalization in liver biopsies are reviewed. Emphasis is put on the following aspects: 1) relationship between peroxisomal size and enzyme concentration; 2) abnormal enlargement of peroxisomes in many congenital disorders with peroxisomal dysfunction; 3) normal localization of matrix enzymes in several patients with peroxisomal dysfunction, with the exception of catalase, which is mainly cytoplasmic; 4) ghost-like peroxisomes in the liver of several syndromes but not in nine cases labelled as Zellweger; 5) discrepancies between liver and cultured fibroblasts; 6) trilamellar, regularly spaced inclusions, large stacks of which are birefringent, indicate a peroxisomal dysfunction; their absence does not exclude it. The same rule holds for lipid in macrophages which is insoluble in acetone and n-hexane (after fixation). The chemical nature of these two storage materials remains unclear; and 7) proliferation of human peroxisomes is frequent in acquired liver diseases and drug toxicity, but is never accompanied by an increase in size, in contrast to the effect of the fibrates and phthalates in rat and mouse. Novel data from seven peroxisomal patients are included.
Roels
F
F
Faculty of Medicine, University of Gent, Belgium.
Espeel
M
M
Poggi
F
F
Mandel
H
H
van Maldergem
L
L
Saudubray
J M
JM
D000326:Adrenoleukodystrophy / Q000473:pathology*; D000818:Animals; D002478:Cells, Cultured; D002806:Chondrodysplasia Punctata / Q000473:pathology*; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D008055:Lipids / Q000737:chemistry; D008099:Liver / Q000473:pathology*; D008247:Lysosomes / Q000648:ultrastructure; D012035:Refsum Disease / Q000473:pathology*; D015211:Zellweger Syndrome / Q000473:pathology*
D008055:Lipids