Nelis G F, Jacobs G J
Department of Medicine, Sophia Ziekenhuis, Zwolle, The Netherlands.
Dig Dis Sci. 1989 Nov;34(11):1798-800. doi: 10.1007/BF01540061.
Fabry-Anderson's disease or angiokeratoma corporis diffusum (ACD) is an X-linked sphingolipidosis with a systemic character and occurs in 2-5 per million births (1-3). The basic defect is the absence of a lysosomal enzyme x-galactosidase A. This enzyme is necessary for the metabolization of ceramide trihexoside (globotriglycosyl ceramide), a breakdown product of cell membranes (4, 5). Clinically the disease is characterized by cutaneous angiokeratoma's and severe pain in the limbs from the second decade, followed by progressive renal insufficiency and cardiovascular and cerebrovascular damage in the third or fourth decade (6-8). In patients with established ACD, gastrointestinal symptoms have been described incidentally, mainly mild diarrhea (9, 10). We describe a kindred with ACD showing two extraordinary clinical features: (1) Anorexia, weight loss, and diarrhea were the presenting symptoms and antedated limb pain by many years, which has not been described before. (2) The disease was associated with another rare X-linked disorder: hypoplastic amelogenesis imperfecta.
法布里 - 安德森病或弥漫性躯体血管角质瘤（ACD）是一种具有全身性特征的X连锁鞘脂贮积病，发病率为每百万出生人口2 - 5例（1 - 3）。基本缺陷是缺乏溶酶体酶α - 半乳糖苷酶A。这种酶对于细胞膜分解产物神经酰胺三己糖苷（球三糖基神经酰胺）的代谢是必需的（4, 5）。临床上，该病的特征是皮肤血管角质瘤，从第二个十年开始出现四肢剧痛，随后在第三个或第四个十年出现进行性肾功能不全以及心血管和脑血管损害（6 - 8）。在已确诊的ACD患者中，曾偶然描述过胃肠道症状，主要是轻度腹泻（9, 10）。我们描述了一个患有ACD的家族，其具有两个特殊的临床特征：（1）厌食、体重减轻和腹泻是首发症状，且比肢体疼痛早出现多年，此前未曾有过此类描述。（2）该疾病与另一种罕见的X连锁疾病：发育不全性釉质发育不全相关。
