法伯病
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法伯病（英語：Farber disease），又名法伯脂肪肉芽肿病、神经酰胺酶缺乏症、纤维细胞性异常粘多糖病、脂肪肉芽肿病[2]:545，是一种极为罕见的（迄今为止全球已报道80例[3]）常染色体隐性溶小體儲積症，其特征为神经酰胺酶缺乏，导致脂肪物质鞘脂积累，进而导致关节、肝、喉、组织及中樞神經系統异常。正常情况下，神经酰胺酶可分解人体细胞中的脂肪，而法伯病患者体内负责产生此酶的基因发生突变，因此脂肪物质不能分解，积聚在人体各个部位。
| 法伯病 | |
|---|---|
| 又称 | 酸性神经酰胺酶缺乏症[1] |
 | |
| 此病症以常染色体隐性遗传 | |
| 类型 | lipid storage disease[*]、疾病 |
| 分类和外部资源 | |
| 醫學專科 | 內分泌學 |
| ICD-10 | E75.2 |
| OMIM | 228000 |
| DiseasesDB | 29174 |
| Orphanet | 333 |
命名
遺傳病學
診斷
Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber disease develop symptoms within the first few weeks of life. These symptoms may include moderately impaired mental ability and problems with swallowing. The liver, heart and kidneys may also be affected. Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness and xanthomas which thicken around joints as the disease progresses. Patients with breathing difficulty may require a breathing tube.
治療
There is no specific treatment for Farber disease. Corticosteroids may be prescribed to relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on patients with little or no lung or nervous system complications. Older patients may have granulomas surgically reduced or removed.
预测
多数法伯病患儿2岁便死于肺病。最严重者出生后不久便诊断出肝脾大，後者通常6个月内死亡。
参考资料
- ^ RESERVED, INSERM US14-- ALL RIGHTS. Orphanet: Farber disease. www.orpha.net. [17 April 2019]. （原始内容存档于2020-11-25） （英语）.
- ^ James, William D.; Berger, Timothy G.; et al. Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. 2006. ISBN 978-0-7216-2921-6.
- ^ Farber lipogranulomatosis. [2019-09-21]. （原始内容存档于2017-12-22）.
- ^ synd/453 - Who Named It?
- ^ Farber S. A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease. American Journal of Diseases of Children. 1952, 84 (4): 499–500. PMID 12975849.
- ^ Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M. Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. J. Hum. Genet. 2006, 51 (9): 811–4. PMID 16951918. doi:10.1007/s10038-006-0019-z.