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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.

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。

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