HERMANSKY-PUDLAK SYNDROME - PULMONARY MANIFESTATIONS OF A CEROID STORAGE DISORDER
HERMANSKY-PUDLAK SYNDROME - PULMONARY MANIFESTATIONS OF A CEROID STORAGE DISORDER
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DOI：
10.1016/0002-9343(79)91111-2
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发表时间：
1979-01-01
影响因子：
5.9
通讯作者：
GOLDRING, RM
中科院分区：
文献类型：
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作者：
GARAY, SM;GARDELLA, JE;GOLDRING, RM
Hermansky-Pudlak综合征是一种眼皮肤白化病，其特征是定性血小板缺陷和整个res的cerloid样物质沉积。在此期间，5例Hermansky-Pudlak综合征患者的症状、胸片和肺功能检查符合限制性肺疾病。2例患者肺活检显示弥漫性间质纤维化。光镜和电镜显示肺泡巨噬细胞内有类cerloid样物质。2例患者表现为炎症性肠病，结肠内有类cerloid样物质沉积。这种疾病可能比目前认识到的更常见，应在弥漫性间质性肺病和炎症性肠病的鉴别诊断中加以考虑。根据最近关于炎症过程的研究，讨论了类cerloid样物质沉积与肺纤维化之间的关系。鉴于该综合征对肺部、胃肠和血液学的严重后果，有必要对这些患者进行遗传咨询。
The Hermansky-Pudlak syndrome is a form of oculocutaneous albinism, characterized by a qualitative platelet defect and deposition of ceroid-like material throughout the RES. During a 16-mo. period, 5 patients with Hermansky-Pudlak syndrome presented with symptoms, chest films and pulmonary function studies consistent with restrictive pulmonary disease. In 2 patients, lung biopsies revealed diffuse interstitial fibrosis. Light microscopy and EM demonstrated ceroid-like material within alveolar macrophages. Two patients presented with inflammatory bowel disease with deposition of ceroid-like material in the colon. This disorder may be more common than currently recognized and should be considered in the differential diagnosis of diffuse interstitial pulmonary disease and inflammatory bowel disease. A relationship between the deposition of ceroid-like material and pulmonary fibrosis is discussed in light of recent research concerning inflammatory processes. In view of the serious pulmonary, gastrointestinal and hematologic consequences of this syndrome, there is a need for genetic counseling of these patients.