ニーマン・ピック病に特徴的な所見。網内系、肺、胃腸などの消化器等の各組織に出現。

参考

写真

http://haematologywatch.yolasite.com/resources/Niemann-Pick%20disease.jpg

http://accessmedicine.net/loadBinary.aspx?name=licha&filename=licha_V.H.018t.jpg

http://ashimagebank.hematologylibrary.org/cgi/content/full/2006/0622/6-00003/APLNP3

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1. ニーマン・ピック病の概要overview of niemann pick disease [show details]
… foam cells are seen in the reticuloendothelial system of the spleen, bone marrow, lymph nodes, blood vessels, peripheral nerve Schwann cells, central nervous system, and retinal cells .… percent of NPD-C cases, while mutations in NPC2 account for approximately 4 percent . So-called Niemann-Pick type D is an allelic variant of NPD-C that results from a point mutation of NPC1 and occurs in …
2. 遺伝性疾患に伴う神経障害neuropathies associated with hereditary disorders [show details]
… leading to the presence of foam cells in macrophages and other cells of the reticuloendothelial system throughout the body .… Niemann-Pick disease (NPD, sphingomyelin-cholesterol lipidosis) is a group of autosomal recessive disorders…
3. アシュケナージ系ユダヤ人集団における遺伝的疾患の発症予測と出生前の保因者診断preconception and prenatal carrier screening for genetic disease in the ashkenazi jewish population [show details]
…caused by disruption of normal DNA repair, which leads to genomic instability, abnormal cell cycle regulation, and cell death. Fanconi anemia may be caused by a pathogenic variant in one of many Fanconi anemia … Tay-Sachs disease, Canavan disease, cystic fibrosis, familial dysautonomia, mucolipidosis IV, Niemann Pick disease type A, Fanconi anemia group C, Bloom Syndrome, and Gaucher disease, because of carrier detection …
4. 脾腫を有する小児に対するアプローチapproach to the child with an enlarged spleen [show details]
… rupture), abscess, granulomas, lymphoproliferative disease, Langerhans cell histiocytosis, Gaucher disease, Niemann-Pick disease, or sarcoidosis. Spleen size – Normal values for splenic length (from the …
5. ムコ多糖症：臨床的特徴および診断mucopolysaccharidoses clinical features and diagnosis [show details]
…fucosidosis, aspartylglucosaminuria), sphingolipidoses (eg, Gaucher type II, Niemann Pick A), and mucolipidoses (eg, I cell disease). Urinary analysis of glycosaminoglycans and oligosaccharides helps differentiate …