text: 法伯病常染色體隱性溶小體儲積症，其特徵為缺乏，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，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.法伯病以美國兒科病理學家西德尼·法伯的姓氏命名。遺傳病學.法伯病被認為與基因缺陷有關。診斷.已隱藏部分未翻譯內容，歡迎參與[ 翻譯]。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.已隱藏部分未翻譯內容，歡迎參與[ 翻譯]。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.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，後者通常6個月內死亡。
metadata: erhwenkuo/wikipedia-zhtw
metadata: 法伯病
metadata: https://zh.wikipedia.org/wiki?curid=6742946