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一名患有肾多囊病男孩的半侧肥大:其家族中肾多囊病的多种表现形式

Hemihypertrophy in a boy with renal polycystic disease: varied patterns of presentation of renal polycystic disease in his family.

作者信息

Ritter R, Siafarikas K

出版信息

Pediatr Radiol. 1976 Dec 15;5(2):98-102. doi: 10.1007/BF00975315.

DOI:10.1007/BF00975315
PMID:1012806
Abstract

Hemihypertrophy is a condition that has been described in association with a variety of other malformations and diseases; quite often these have had a renal origin. -It is the purpose of this paper to record and discuss the occurrence of polycystic disease in a family, to note that the disease was manifest as either the "adult" or the "infantile" form, and detail the fact that one member of the family who had infantile type polycystic disease also had hemihypertrophy. -The pattern of inheritance of renal polycystic disease, its age at presentation and the variation in the boy of its manifestation with the passage of time are discussed. The need for caution in offering a prognosis and genetic counselling is stressed.

摘要

半侧肥大是一种与多种其他畸形和疾病相关的病症;这些病症常常起源于肾脏。本文旨在记录和讨论一个家族中多囊性疾病的发生情况,指出该疾病表现为“成人型”或“婴儿型”,并详述家族中一名患有婴儿型多囊性疾病的成员同时伴有半侧肥大这一事实。文中讨论了肾多囊性疾病的遗传模式、发病年龄以及其表现形式随时间推移在该男孩身上的变化。强调了在提供预后和遗传咨询时需谨慎。

相似文献

1
Hemihypertrophy in a boy with renal polycystic disease: varied patterns of presentation of renal polycystic disease in his family.一名患有肾多囊病男孩的半侧肥大:其家族中肾多囊病的多种表现形式
Pediatr Radiol. 1976 Dec 15;5(2):98-102. doi: 10.1007/BF00975315.
2
[Hemihypertrophy in a boy with polycystic kidney].[一名患有多囊肾男孩的半身肥大]
Helv Paediatr Acta. 1987;42(4):305-7.
3
Simultaneous medullary sponge and adult polycystic kidney disease: the need for accurate diagnosis.髓质海绵肾与成人多囊肾病并存:准确诊断的必要性。
Arch Intern Med. 1982 Jan;142(1):163-5.
4
Radiologic features of "adult type" polycystic kidney disease in the neonate.新生儿“成人型”多囊肾病的放射学特征。
Pediatr Radiol. 1976 Feb 13;4(2):87-92. doi: 10.1007/BF00973949.
5
A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS.一位患有腭心面综合征和单侧发育异常肾脏的母亲及其患有多囊性发育不良肾的胎儿:支持肾脏畸形与腭心面综合征关联的更多证据。
J Med Genet. 1998 Apr;35(4):348. doi: 10.1136/jmg.35.4.348.
6
Infantile polycystic kidney disease: an imaging dilemma.婴儿型多囊肾病:影像学诊断难题
Urol Radiol. 1983;5(2):89-94. doi: 10.1007/BF02926777.
7
Cystic renal diseases in children.儿童肾囊性疾病
Adv Nephrol Necker Hosp. 1989;18:33-57.
8
Sonography of infantile polycystic kidney disease.
AJR Am J Roentgenol. 1980 Sep;135(3):575-80. doi: 10.2214/ajr.135.3.575.
9
[Polycystic kidney disease in children].[儿童多囊肾病]
Pediatrie. 1989;44(7):539-44.
10
[Type III polycystic kidney in a 7-year-old boy].[一名7岁男孩的III型多囊肾]
J Urol Nephrol (Paris). 1977;83 Suppl 2:538-42.

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2
Glomerulocystic disease: unilateral involvement of a horseshoe kidney and in trisomy 18.
Pediatr Nephrol. 1993 Aug;7(4):375-8. doi: 10.1007/BF00857542.
3
Nephrocalcinosis in a child with autosomal dominant polycystic kidney disease and a prolapsing ectopic ureterocele.
Pediatr Radiol. 1995;25(6):462-5. doi: 10.1007/BF02019068.
4

本文引用的文献

1
[HEPATO-RENAL POLYCYSTIC DISEASES].
Rev Int Hepatol. 1964;14:489-538.
2
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Fortschr Geb Rontgenstr Nuklearmed. 1969 Jan;110(1):28-38.
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Hemihypertrophy.
Pediatrics. 1965 Sep;36(3):434-48.
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Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.多囊肾。遗传学、病理解剖学、临床表现及产前诊断。
Hum Genet. 1984;68(2):104-35. doi: 10.1007/BF00279301.
5
Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data.儿童显性和隐性多囊肾病:临床特征与实验室数据评估
Pediatr Nephrol. 1988 Jul;2(3):296-302. doi: 10.1007/BF00858681.
6
Beckwith-Wiedemann syndrome and its association with type III polycystic kidney disease.
Pediatr Nephrol. 1989 Jul;3(3):286-9. doi: 10.1007/BF00858531.
7
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.
[Hemihypertrophy (author's transl)].[半侧肥大(作者译)]
Monatsschr Kinderheilkd (1902). 1973 Dec;121(12):721-4.
6
Medullary sponge kidney associated with congenital hemihypertrophy (asymmetry). A case report and survey of the literature.髓质海绵肾合并先天性半侧肥大(不对称)。病例报告及文献综述。
Am J Roentgenol Radium Ther Nucl Med. 1972 Dec;116(4):773-7. doi: 10.2214/ajr.116.4.773.
7
Wilms' tumor and congenital hemihypertrophy: report of five new cases and review of literature.肾母细胞瘤与先天性半身肥大:五例新病例报告及文献复习
Pediatrics. 1967 Nov;40(5):886-99.
8
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
J Pediatr. 1975 Nov;87(5):760-3. doi: 10.1016/s0022-3476(75)80303-9.
9
Adult type of polycystic kidney disease in a new-born child.
Acta Med Scand. 1975 Jun;197(6):447-50. doi: 10.1111/j.0954-6820.1975.tb04949.x.
10
Radiologic features of "adult type" polycystic kidney disease in the neonate.新生儿“成人型”多囊肾病的放射学特征。
Pediatr Radiol. 1976 Feb 13;4(2):87-92. doi: 10.1007/BF00973949.