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婴儿显性遗传性多囊肾:与肥厚性幽门狭窄的关联。

Dominantly-inherited polycystic kidneys in infants: association with hypertrophic pyloric stenosis.

作者信息

Loh J P, Haller J O, Kassner E G, Aloni A, Glassberg K

出版信息

Pediatr Radiol. 1977 Jul 25;6(1):27-31. doi: 10.1007/BF00973811.

Abstract

Newborn male fraternal twins presented at 10 days of age will bilateral flank masses; intravenous urograms showed polycystic kidney disease. Both babies also had hypertrophic pyloric stenosis (HPS). Their father has radiographic and sonographi findings of previously unsuspected polycystic kidneys and has a history of HPS in infancy. The association of dominantly-inherited polycystic kidneys (DPK) and HPS in this family is probably due to chance. However the authors speculate that the autosomal gene for DPK may occur at one of several loci that carry the genetic liability for HPS, A DISORDER TRANSMITTED BY POLYGENIC INHERITANCE.

摘要

10日龄的新生男性异卵双胞胎因双侧胁腹部肿块前来就诊;静脉肾盂造影显示为多囊肾疾病。两个婴儿还患有肥厚性幽门狭窄(HPS)。他们的父亲经影像学和超声检查发现有此前未被怀疑的多囊肾,且有婴儿期HPS病史。该家族中显性遗传多囊肾(DPK)与HPS的关联可能是偶然。然而,作者推测,DPK的常染色体基因可能出现在携带HPS遗传易感性的几个位点之一,HPS是一种由多基因遗传传递的疾病。

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