Sugie K, Yamamoto A, Murayama K, Oh S J, Takahashi M, Mora M, Riggs J E, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I
Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Neurology. 2002 Jun 25;58(12):1773-8. doi: 10.1212/wnl.58.12.1773.
Danon disease is due to primary deficiency of lysosome-associated membrane protein-2.
To define the clinicopathologic features of Danon disease.
The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were reviewed.
All patients had cardiomyopathy, 18 of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy, and 14 of 20 male patients (70%) and one of 18 female patients (6%) had mental retardation. Men were affected before age 20 years whereas most affected women developed cardiomyopathy in adulthood. Muscle histology revealed basophilic vacuoles that contain acid phosphatase-positive material within membranes that lack lysosome-associated membrane protein-2. Heart transplantation is the most effective treatment for the otherwise lethal cardiomyopathy.
Danon disease is an X-linked dominant multisystem disorder affecting predominantly cardiac and skeletal muscles.
丹农病是由于溶酶体相关膜蛋白-2原发性缺乏所致。
明确丹农病的临床病理特征。
回顾了13个经基因确诊的丹农病家族中20例患病男性和18例患病女性的特征。
所有患者均有心肌病，20例男性患者中有18例（90%）、18例女性患者中有6例（33%）有骨骼肌病，20例男性患者中有14例（70%）、18例女性患者中有1例（6%）有智力障碍。男性在20岁前发病，而大多数患病女性在成年期出现心肌病。肌肉组织学显示嗜碱性空泡，其膜内含有酸性磷酸酶阳性物质，且缺乏溶酶体相关膜蛋白-2。心脏移植是治疗这种致命性心肌病最有效的方法。
丹农病是一种X连锁显性多系统疾病，主要影响心脏和骨骼肌。
