一名儿童患肾性尿崩症与韦尼克-霍夫曼病：一种罕见的关联。
Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.
作者信息
Bernasconi S, Pezzani C, Balestrazzi P, Marbini A
出版信息
J Med Genet. 1978 Jun;15(3):219-21. doi: 10.1136/jmg.15.3.219.
Abstract
The unusual association of Werdnig-Hoffmann disease and nephrogenic diabetes insipidus in a 5-month-old child is described for the first time. The association is casual, considering the different pathways of genetical transmission in these two diseases. The possibility of identifying the heterozygote is discussed and it appears to be limited to nephrogenic diabetes insipidus.
摘要
首次描述了一名5个月大儿童中韦尼克-霍夫曼病与肾性尿崩症的罕见关联。考虑到这两种疾病不同的遗传传递途径，这种关联是偶然的。文中讨论了识别杂合子的可能性，而这似乎仅限于肾性尿崩症。
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