OSTEOPETROSIS - A CLINICAL GENETIC METABOLIC AND MORPHOLOGIC STUDY OF DOMINANTLY INHERITED BENIGN FORM
OSTEOPETROSIS - A CLINICAL GENETIC METABOLIC AND MORPHOLOGIC STUDY OF DOMINANTLY INHERITED BENIGN FORM
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DOI：
10.1097/00005792-196803000-00004
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发表时间：
1968-01-01
期刊：
影响因子：
1.6
通讯作者：
DEISS, WP
中科院分区：
文献类型：
--
作者：
JOHNSTON, CC;LAVY, N;DEISS, WP
1904年，德国放射科医生海因里希·阿尔伯斯-舒恩伯格描述了一名26岁的男性全身骨骼硬化和多发性骨折，由此描绘了一个新的实体。骨化症一词由Karshner于1922年(30)提出。本病又称Albers-Schonberg病、大理石骨病、脆性骨质疏松症或泛骨化症。目前，文献中报道的病例约有300例。已有研究表明，该病可分为两组--一种可能是隐性遗传的儿童期恶性形式，另一种是较为良性的显性遗传形式。这个重要的问题还没有得到足够的重视。最近的一些文本(49，51)甚至没有提到这一点，但报告的案件在这两种类型之间几乎平分秋色。大多数以前的报告都出现在儿科或放射学文献中，但这种疾病应该是成人医学从业者所熟悉的，因为良性形式与恶性儿童形式一样常见。我们最近研究了来自两个良性疾病家系的11名受试者。进行了详细的遗传评估，并接纳了几名患者进行代谢研究。此外，在一些病例中还获得了活检以进行组织学研究。
In 1904, a German radiologist, Heinrich Albers-Schonberg, described a 26 year old man with generalized sclerosis of the skeleton and multiple fractures (2), thereby delineating a new entity. The term osteopetrosis was introduced by Karshner in 1922 (30). This dis-ease is also called Albers-Schonberg disease, marble bone disease, osteosclerosis fragilis generalisata, or osteopetrosis generalisata. At the present time there are approximately 300 cases reported in the literature. It has been shown that the disease may be subdivided into two groups—a malignant childhood form which is probably recessive in inheritance, and a more benign dominantly inherited form. This important dis-tinction has not been sufficiently emphasized. It is not even made in some recent texts (49, 51), yet the reported cases are about equally divided between the two types. Most previous reports have appeared in the pediatric or radiologic literature, but the disease should be familiar to the practitioner of adult med-icine since the benign form is as common as the malignant childhood form. We have recently studied 11 subjects from two families with the benign form of the dis-ease. A detailed genetic evaluation was performed and several patients were admitted for metabolic studies. In addition, biopsies were obtained in some cases for histologic study.