法伯病
 | 此條目需要補充更多來源。 (2019年9月21日) |
| 法伯病 | |
|---|---|
| 又稱 | 酸性神經酰胺酶缺乏症[1] |
 | |
| 此病症以常染色體隱性遺傳 | |
| 類型 | lipid storage disease[*]、疾病 |
| 分類和外部資源 | |
| 醫學專科 | 內分泌學 |
| ICD-10 | E75.2 |
| OMIM | 228000 |
| DiseasesDB | 29174 |
| Orphanet | 333 |
法伯病（英語：Farber disease），又名法伯脂肪肉芽腫病、神經酰胺酶缺乏症、纖維細胞性異常粘多糖病、脂肪肉芽腫病[2]:545，是一種極為罕見的（迄今為止全球已報道80例[3]）常染色體隱性溶小體儲積症，其特徵為神經酰胺酶缺乏，導致脂肪物質鞘脂積累，進而導致關節、肝、喉、組織及中樞神經系統異常。正常情況下，神經酰胺酶可分解人體細胞中的脂肪，而法伯病患者體內負責產生此酶的基因發生突變，因此脂肪物質不能分解，積聚在人體各個部位。
命名
[編輯]法伯病以美國兒科病理學家西德尼·法伯的姓氏命名[4][5]。
遺傳病學
[編輯]診斷
[編輯]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
[編輯]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.
預測
[編輯]多數法伯病患兒2歲便死於肺病。最嚴重者出生後不久便診斷出肝脾大，後者通常6個月內死亡。
參考資料
[編輯]- ^ RESERVED, INSERM US14-- ALL RIGHTS. Orphanet: Farber disease. www.orpha.net. [17 April 2019]. （原始內容存檔於2020-11-25） （英語）.
- ^ 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]. （原始內容存檔於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.
