遗传性骨甲发育不良（HOOD，指甲-髌骨综合征）合并肾病的遗传咨询
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
作者信息
Looij B J, te Slaa R L, Hogewind B L, van de Kamp J J
机构信息
Department of Nephrology, University Hospital, Leiden, The Netherlands.
出版信息
J Med Genet. 1988 Oct;25(10):682-6. doi: 10.1136/jmg.25.10.682.
Abstract
Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy. The risk for HOOD patients to have a child with HOOD who will develop renal failure cannot easily be deduced from published pedigrees. We have studied a large family with 30 patients with HOOD and have analysed 34 kindreds with HOOD nephropathy from published reports, comprising 213 patients. For a patient with HOOD from a family in which HOOD nephropathy occurs, the risk of having a child with HOOD nephropathy is about 1:4; the risk of having a child in whom renal failure will develop is about 1:10.
摘要
遗传性骨-甲发育不良（HOOD，即指甲-髌骨综合征）是一种常染色体显性疾病，其特征为指甲发育异常、髌骨发育不全或发育不良以及肾病。HOOD患者生育患有HOOD且会发展为肾衰竭的孩子的风险，很难从已发表的家系图中推断出来。我们研究了一个有30名HOOD患者的大家庭，并分析了已发表报告中的34个患有HOOD肾病的家族，其中包括213名患者。对于来自发生HOOD肾病家族的HOOD患者，生育患有HOOD肾病孩子的风险约为1:4；生育会发展为肾衰竭孩子的风险约为1:10。
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