Hermansky-Pudlak Syndrome: Health Care Throughout Life

被引：79

作者：

Seward, Samuel L., Jr. ^{[1
]}

Gahl, William A. ^{[2
]}

机构：

[1] Columbia Univ, Dept Med, Med Ctr, New York, NY USA

[2] NHGRI, NIH, Bethesda, MD 20892 USA

来源：

PEDIATRICS | 2013年 / 132卷 / 01期

关键词：

Hermansky-Pudlak; albinism; platelet storage pool deficiency; standard of care; IDIOPATHIC PULMONARY-FIBROSIS; DISEASE; PIRFENIDONE; MUTATIONS; PATIENT; GENE; FORM; SKIN;

D O I：

10.1542/peds.2012-4003

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predisposed to interstitial lung disease. In addition, some patients with HPS develop granulomatous colitis. Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated with this syndrome.

引用

页码：153 / 160

页数：8

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