Diffuse renal cystic disease in children: morphologic and genetic correlations.
Diffuse renal cystic disease in children: morphologic and genetic correlations.
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儿童弥漫性肾囊性病：形态学和遗传相关性。
DOI：
10.1007/s004670050431
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Bernstein,J
中科院分区：
文献类型：
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作者：
Guay-Woodford,LM;Galliani,CA;Musulman-Mroczek,E;Spear,GS;Guillot,AP;Bernstein,J
在5年的时间里，我们评估了7名婴儿和2名胎儿谁提出了扩大，高回声的肾脏。在每一个，最初的临床诊断是常染色体隐性遗传性多囊肾病（ARPKD）。在7名无关婴儿中，有3名白人婴儿和4名非洲裔美国婴儿。在这些婴儿中没有明显的综合征性红斑。在进行初步评估时，4名婴儿的家庭数据不完整。根据先前兄弟姐妹的诊断，推测这两个胎儿有患ARPKD的风险。对所有9例病例进行了肾组织病理学评价，发现了一系列囊性疾病，从ARPKD到肾小球囊性肾病，从常染色体显性遗传性多囊肾病到弥漫性囊性发育不良。在8例肝组织病理学可用的病例中，不同程度的胆道发育不全是明显的。我们提出了一个详细的分析，在每种情况下的关键组织病理学特征，并讨论在胚胎学背景下的组织病理学研究结果。此外，我们解决了目前的分子遗传学在诊断评估中的作用。
During a 5-year period, we evaluated seven infants and two fetuses who presented with enlarged, hyperechoic kidneys. In each, the initial clinical diagnosis was autosomal recessive polycystic kidney disease (ARPKD). Among the seven unrelated infants were three Caucasian and four African-American infants. No syndromic stigmata were evident in any of these infants. At the time of the initial evaluation, the family data were incomplete for four infants. The two fetuses were presumed to be at-risk for ARPKD based on the diagnosis in previous siblings. Renal histopathology was evaluated in all nine cases and revealed a spectrum of cystic disease ranging from ARPKD to glomerulocystic kidney disease to autosomal dominant polycystic kidney disease to diffuse cystic dysplasia. In the eight cases for whom liver histopathology was available, varying degrees of biliary dysgenesis were evident. We present a detailed analysis of the key histopathological features in each case and discuss the histopathological findings in an embryological context. In addition, we address the current role of molecular genetics in the diagnostic evaluation.