Abstract:
:The Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease characterized by a triad of oculocutaneous albinism, accumulation of auto-fluorescent ceroid-like pigments within macrophages, and bleeding tendency due to a storage pool disease of the platelets. We report an autopsy case (39y, male), who died of pulmonary fibrosis and hemorrhage, with analysis of auto-fluorescent ceroid-like pigments (CLP). Pigmented macrophages were seen in almost all organs, especially marked in bone marrow, spleen, liver, colon, lymph nodes and kidneys. Ultrastructurally, CLP was intracytoplasmic electron-dense and -lucent congeries. Histochemical characteristics and auto-fluorescence of CLP showed similarities to ceroid. Substance which revealed brilliant lemon yellow autofluorescent was extracted from homogenized tissue of spleen with chloroform/methanol (2:1), then separated by thin-layer chromatography. The fluorescent substance had an excitation maximum at 360nm and a fluorescence maximum at 440nm, which is the same characteristic as described fluorescent lipid peroxidation products in vitro.
journal_name
Gerontologyjournal_title
Gerontologyauthors
Ohbayashi C,Kanomata N,Imai Y,Ito H,Shimasaki Hdoi
10.1159/000213751subject
Has Abstractpub_date
1995-01-01 00:00:00pages
297-303eissn
0304-324Xissn
1423-0003journal_volume
41 Suppl 2pub_type
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