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不列颠哥伦比亚省的肾缺如

Renal agenesis in British Columbia.

作者信息

Wilson R D, Baird P A

出版信息

Am J Med Genet. 1985 May;21(1):153-69. doi: 10.1002/ajmg.1320210123.

DOI:10.1002/ajmg.1320210123
PMID:4003440
Abstract

We review the incidence of bilateral and unilateral renal agenesis occurring in more than 625,000 consecutive births in British Columbia from 1952 to 1982. In total, 92 cases of bilateral renal agenesis and 117 cases of unilateral renal agenesis were identified. Congenital anomalies occurring in association with these conditions were also analyzed. The findings of the study support a mechanism in at least a proportion of cases of a primary developmental defect involving multiple systems within the fetus, with oligohydramnios being the result of the syndrome not the cause. Oligohydramnios no doubt contributes to the anomalies of the face, musculoskeletal system, and genitalia. No trends in changing incidence over time were identified.

摘要

我们回顾了1952年至1982年在不列颠哥伦比亚省连续超过62.5万例出生中双侧和单侧肾发育不全的发生率。总共确定了92例双侧肾发育不全和117例单侧肾发育不全病例。还分析了与这些情况相关的先天性异常。该研究结果支持至少在一部分病例中存在一种涉及胎儿多个系统的原发性发育缺陷机制,羊水过少是该综合征的结果而非原因。羊水过少无疑会导致面部、肌肉骨骼系统和生殖器的异常。未发现发病率随时间变化的趋势。

相似文献

1
Renal agenesis in British Columbia.不列颠哥伦比亚省的肾缺如
Am J Med Genet. 1985 May;21(1):153-69. doi: 10.1002/ajmg.1320210123.
2
Hypospadias in British Columbia.不列颠哥伦比亚省的尿道下裂
Am J Med Genet. 1985 May;21(1):39-50. doi: 10.1002/ajmg.1320210106.
3
[Bilateral renal agenesis: a 10-year experience].[双侧肾缺如:十年经验]
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4
Limb reduction defects in over one million consecutive livebirths.超过一百万例连续活产中的肢体减少缺陷。
Teratology. 1989 Feb;39(2):127-35. doi: 10.1002/tera.1420390205.
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Congenital cystic adenomatoid malformation in bilateral renal agenesis. Its mitigation of Potter's syndrome.双侧肾缺如中的先天性囊性腺瘤样畸形。其对波特综合征的缓解作用。
Arch Pathol Lab Med. 1980 Jul;104(7):368-70.
6
Normal pulmonary function in a monoamniotic twin discordant for bilateral renal agenesis: report and review.单羊膜囊双胎中一胎双侧肾缺如而另一胎肺功能正常:病例报告及文献复习
Am J Med Genet. 1997 Nov 28;73(1):76-9.
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Prenatal diagnosis of bilateral renal agenesis.双侧肾缺如的产前诊断。
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8
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).与肢体缺损相关的先天性异常:基于匈牙利先天性畸形登记处(1975 - 1984年)病例的人群研究。
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[Bilateral renal agenesis or Potter's sequence. A case of recurrent bilateral renal agenesis].[双侧肾缺如或波特序列征。一例复发性双侧肾缺如病例]
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Potter's syndrome: a report of 5 cases.波特综合征:5例报告
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Renal aplasia in humans is associated with RET mutations.人类肾发育不全与RET基因突变有关。
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Failure of ureteric bud invasion: a new model of renal agenesis in mice.输尿管芽侵入失败:小鼠肾发育不全的一种新模型。
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Genetic disorders in children and young adults: a population study.儿童和青年的遗传疾病:一项人群研究。
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