具有家族性的青少年咖啡因病1例报告

Milind Kanjalkar, Prachi Jethwa, Atul Adaniya
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引用次数: 0

摘要

卡菲氏病是一种最常发生在婴儿身上的骨骼疾病。它以常染色体显性模式遗传,但并非所有遗传基因改变的人都会出现体征和症状。大多数患有卡菲氏病的人在童年早期之后就没有与这种疾病相关的进一步问题了。偶尔,几年后会出现另一次骨质增生。这个病例的特殊之处在于它发生在孩子成长的青春期。这种情况大多被低估了,因为它在儿童时期就消退了,因此我们报道了这个独特的病例。父母提出的投诉不同的病因和骨痛和畸形的投诉,因为出生。在排除了其他诊断后,他被诊断出患有卡菲氏病。由于卡菲氏病在儿童早期就会消退,所以关于它的文献很少。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case report on Caffeys disease in an adolescent with a familial aspect
Caffey’s disease is a bone disorder that most often occurs in babies. It is inherited in an autosomal dominant pattern but not all people who inherit the genetic change develop signs and symptoms. Most people with Caffey’s disease have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. The peculiarity about this case was its presence in the adolescent stage of the child’s growth. This condition is mostly underreported due to its regression in childhood itself, and hence we have reported this unique case. The parents presented with complaints of a different etiology and with complaints of bone pains and deformity since birth. He was diagnosed primarily with Caffey’s disease after ruling out other diagnoses. There is very little literature on Caffey’s disease due to its regression in early childhood.
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