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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.

DOI:10.1007/BF00973811
PMID:887299
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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1
Dominantly-inherited polycystic kidneys in infants: association with hypertrophic pyloric stenosis.婴儿显性遗传性多囊肾:与肥厚性幽门狭窄的关联。
Pediatr Radiol. 1977 Jul 25;6(1):27-31. doi: 10.1007/BF00973811.
2
Inheritance of hypertrophic pyloric stenosis.肥厚性幽门狭窄的遗传
Am J Roentgenol Radium Ther Nucl Med. 1971 Oct;113(2):241-4. doi: 10.2214/ajr.113.2.241.
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Recessive polycystic kidney disease and congenital hypertrophic pyloric stenosis.隐性多囊肾病和先天性肥厚性幽门狭窄。
Pediatr Radiol. 1991;21(2):160. doi: 10.1007/BF02015641.
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Probable autosomal dominant infantile pyloric stenosis in a large kindred.一个大家族中可能的常染色体显性遗传性婴儿幽门狭窄
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[Ultrasonographic verification of hypertrophic pyloric stenosis].肥厚性幽门狭窄的超声检查验证
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Hypertrophic pyloric stenosis: adult and congenital types occurring in the same family.肥厚性幽门狭窄:同一家族中出现成人型和先天性类型。
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[Congenital hypertrophic pyloric stenosis in twins].[双胞胎中的先天性肥厚性幽门狭窄]
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Pelvi-ureteric junction obstruction in autosomal-dominant polycystic kidney disease: an association yet to be reported.常染色体显性多囊肾病中的肾盂输尿管连接部梗阻:一种尚未见报道的关联。
BMJ Case Rep. 2012 Jul 9;2012:bcr2012006229. doi: 10.1136/bcr-2012-006229.
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Infantile hypertrophic pyloric stenosis--genetics and syndromes.

本文引用的文献

1
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Inheritance of congenital pyloric stenosis.先天性幽门狭窄的遗传
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Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?常染色体显性多囊肾病基因决定的早期表现的产前诊断?
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Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.儿童多囊肾病:对82例芬兰患者的遗传学和流行病学研究
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J Med Genet. 1971 Sep;8(3):257-84. doi: 10.1136/jmg.8.3.257.
6
Congenital appearance of adult-type (autosomal dominant) polycystic kidney disease.成人型(常染色体显性)多囊肾病的先天性表现
J Pediatr. 1974 Dec;85(6):807-10. doi: 10.1016/s0022-3476(74)80346-x.
7
Infantile presentation of adult-type polycystic kidney disease in a large kindred.一个大家族中成人型多囊肾病的婴儿期表现
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A spectrum of renal tubular ectasia and hepatic fibrosis.一系列肾小管扩张和肝纤维化。
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Polycystic kidney disease: recognition of the "adult form" (autosomal dominant) in infancy.多囊肾病:婴儿期“成人型”(常染色体显性)的识别。
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Adult type of polycystic kidney disease in a new-born child.
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