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大理石骨病——关于其病程的一份报告(作者译)

[Marble bones disease--a contribution to its course (author's transl)].

作者信息

Lischka A, Gieske M

出版信息

Monatsschr Kinderheilkd. 1982 Feb;130(2):105-9.

PMID:7062918
Abstract

The two different forms of Osteopetrosis Albers-Schönberg are demonstrated by the respective reports on two typical cases. The autosomal dominant form has a late manifestation and is often discovered only by chance. The autosomal recessive form manifests itself in early infancy and often results in death during the first decade of life. There is no known therapy. Pathogenesis and pathophysiology cannot be explained with certainty; an insufficiency of osteoclasts as well as a disturbed ossification process have been postulated. With regard to the prognosis it is essential to realize other forms of osteopetrosis. The genetic aspects are pointed out, in particular their implication in advising families who wish to have further children.

摘要

关于两例典型病例的各自报告展示了阿尔伯斯-尚伯格病的两种不同形式。常染色体显性形式表现较晚,往往只是偶然被发现。常染色体隐性形式在婴儿早期就会出现症状,且常在生命的第一个十年内导致死亡。目前尚无已知的治疗方法。发病机制和病理生理学尚不能确切解释;有人推测可能存在破骨细胞功能不足以及骨化过程紊乱的情况。关于预后,必须认识到还有其他形式的骨质石化症。文中指出了其遗传方面的问题,特别是在为希望生育更多子女的家庭提供建议时所涉及的遗传问题。

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