Misery Laurent, Gregoire Madeleine, Prieur Fabienne, Froissart Régis, Guffon Nathalie, Maitre Séverine, Fond Laurent, Denis Laurence, Perrot Jean-Luc, Cambazard Frédéric
Service de Dermatologie, 42055 Saint-Etienne Cedex, France.
Ann Med Interne (Paris). 2002 Jun;153(4):283-5.
Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs.
A 19-year-old man with known hypoparathyroidism presented with telangiectasia and angiokeratomas on the buttocks, the hips, the hands and around the navel. For many years, he suffered from paroxysmal pain in the hands and feet. From childhood, he had complained of diffuse abdominal pain, associated with diarrhea. Ophthalmological slit lamp fundus examination showed corneal telangiectasia and cornea verticella. There was no kidney or heart involvement. The diagnosis of Fabry's disease was confirmed by very low levels of alpha-galactosidase.
We did not find any other association of hypoparathyroidism and Fabry's disease in the literature. Hypoparathyroidism is not a manifestation of Fabry's disease. Idiopathic hypoparathyroidism is very rare and a genetic origin is known. This disease can be recessive X-linked. A co-transmission of idiopathic hypoparathyroidism and Fabry's disease is probable in our patient.
法布里病是由于α-半乳糖苷酶缺乏所致。这种罕见的溶酶体贮积病通过X连锁隐性遗传方式传递。鞘脂类（半乳糖基-葡糖基-神经酰胺）在许多器官中蓄积。
一名已知患有甲状旁腺功能减退症的19岁男性，臀部、髋部、手部及脐周出现毛细血管扩张和血管角质瘤。多年来，他一直遭受手足阵发性疼痛。自童年起，他就诉说有弥漫性腹痛，并伴有腹泻。眼科裂隙灯眼底检查显示角膜毛细血管扩张和角膜涡状浑浊。未发现肾脏或心脏受累。α-半乳糖苷酶水平极低确诊为法布里病。
我们在文献中未发现甲状旁腺功能减退症与法布里病的其他关联。甲状旁腺功能减退症并非法布里病的表现。特发性甲状旁腺功能减退症非常罕见，已知有遗传起源。这种疾病可能是X连锁隐性的。我们的患者有可能同时遗传了特发性甲状旁腺功能减退症和法布里病。
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