Hermansky–Pudlak综合征(Hermansky–Pudlak syndrome, HPS)是一种综合症型白化病,主要表现为色素减退、出血倾向以及由溶酶体相关细胞器功能缺陷引起的其他临床表现,例如肺纤维化、结肠炎、免疫相关疾病、神经症状等。目前人群中已鉴定出10种HPS亚型及其致病基因(HPS1~10)。 色素减退与黑素小体合成缺陷相关,仅发生于眼部...
Hermansky–Pudlak syndromeHermansky鈥揚udlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction ...
Hermansky-Pudlak 综合征 (HPS) 是一种罕见的遗传性疾病,由两个特征组成:色素沉着减少(白化病)伴视力障碍,以及血小板功能障碍伴长期出血。一些患者患有肺纤维化、结肠炎或身体各组织中脂肪样物质(蜡样脂褐质)的异常储存。 二、症状与...
而遗传性疾病 Hermansky-Pudlak 综合征(Hermansky-Pudlak syndrome,HPS),更是给肺纤维化的研究带来了新的挑战和机遇。HPS 是一种非常罕见的常染色体隐性遗传病,大约每百万人中才会出现一例。患有这种病的人,不仅会有眼皮肤白化病和血小板功能障碍,部分患者还会早早地被进行性纤维化 ILD 找上门,这也是导致他们死亡的...
Hermansky-Pudlak综合征(HPS)是一种罕见的遗传性疾病,主要表现为出血倾向和视网膜色素变性。HPS IX是HPS的一种亚型,是由HPS9基因突变引起的。HPS9基因位于人类第10号染色体上,编码一种叫做HPS9的蛋白质。HPS IX的发病率较低,目前全球已知的HPS IX病例不到10例。
Hermansky-Pudlak综合征（HPS）是一种罕见的常染色体隐性遗传疾病，主要症状包括出血时间延长、白化病和溶酶体胶质样沉积。这种病症通常在30至50岁之间导致严重的并发症，如肺纤维化、出血和结肠炎，从而威胁患者的生命。目前，尚无针对HPS的有效治疗方法。研究发现，HPS是由多个基因的突变引起，这些突变影响了...
Overview: Hermansky-Pudlak syndrome (HPS) is a hereditary condition characterized by oculocutaneous albinism and bleeding diathesis. Visual indicators of oculocutaneous albinism include fair or light-colored skin, hair, and eyes. Other symptoms may...
Hermansky–Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, bleeding tendency, and ceroid deposition which often leads to death in midlife. Currently, nine genes have been identified as causative for HPS in humans. Hypopigmentation is the prominent feature of HPS, attributable to ...
Hermansky-Pudlak syndrome (HPS) types 1 and 4 are caused by defective vesicle trafficking. The mechanism for Crohn’s disease-like inflammation, lung fibrosis, and macrophage lipid accumulation in these patients remains enigmatic. The aim of this study is to understand the cellular basis of inflamm...