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男性同胞中的肾病与神经元迁移障碍——一种新的遗传性疾病?

Nephrosis and disturbances of neuronal migration in male siblings--a new hereditary disorder?

作者信息

Palm L, Hägerstrand I, Kristoffersson U, Blennow G, Brun A, Jörgensen C

出版信息

Arch Dis Child. 1986 Jun;61(6):545-8. doi: 10.1136/adc.61.6.545.

Abstract

Two male siblings (a boy aged 2 years 10 months at death and a male fetus aborted in gestational week 22) showed similar brain and kidney malformations, comprising paraventricular heterotopias, central canal abnormalities (including hydrocephalus in the boy), and glomerular kidney disease with proteinuria. There were no known hereditary diseases in the families of the parents, and there was one healthy sibling of either sex. The malformations thus seem to be hereditary in an autosomal or possibly X linked recessive fashion.

摘要

两名男性同胞(一名2岁10个月死亡的男孩和一名在孕22周时流产的男胎)表现出相似的脑和肾畸形,包括室旁异位、中央管异常(男孩中包括脑积水)以及伴有蛋白尿的肾小球肾病。父母家族中无已知遗传病,且有一名健康的同胞,性别不限。因此,这些畸形似乎以常染色体或可能的X连锁隐性方式遗传。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/1777827/243e0009f5e1/archdisch00709-0022-a.jpg

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