Medullary cystic disease: an inherited form of autoimmune interstitial nephritis?
Medullary cystic disease: an inherited form of autoimmune interstitial nephritis?
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髓样囊性病：自身免疫性间质性肾炎的遗传形式？
DOI：
10.1016/s0272-6386(87)80108-7
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Neilson,EG
中科院分区：
文献类型：
--
作者：
Kelly,CJ;Neilson,EG
从历史上看，遗传性肾脏病变是通过其显性形态或独特的功能异常来分类的。这是因为人们对它们的起源或病理生理学知之甚少。基于形态学的分类的一个结果是，不可避免地倾向于将具有共同形态学特征的疾病视为具有共同的致病机制，尽管这种情况可能并不正确。这种分类系统的一个经久不衰的例子是肾囊性疾病。传统上，关于这一主题的教科书将具有宏观或微观囊肿的遗传性和获得性肾脏疾病归为一类。1.2尽管在过去的10至15年里，囊性疾病的术语已经变得更加一致，但人们很了解关于囊性疾病描述性命名的混淆。两种最常见的典型进展到终末期的遗传性囊性疾病是成人多囊性肾病（APKD）和髓质囊性疾病-家族性幼年肾病综合征（MCD-FJN）。它们的遗传模式、自然病史和相关的临床并发症在最近的报道中都得到了很好的描述。APKD的遗传似乎映射到16.6染色体的短臂上。APKD通常是常染色体显性遗传，而MCDFJN通常是常染色体隐性遗传。这两种疾病加起来占所有终末期肾病的10%到12%。虽然精心管理高血压和感染（特别是APKD）和容量消耗（特别是MCD-FJN）可以防止肾功能加速丧失，但对这两种疾病都没有特异性治疗方法。
INHERITED KIDNEY lesions have historically been classified either by their dominant morphology or by a distinctive functional abnormality. This is because little is really known about their origins or pathophysiology. One consequence of a classification based on morphology is the inevitable tendency to regard diseases with common morphologic features as having shared pathogenic mechanisms, though this mayor may not be true. An enduring example of such a classification system is that of renal cystic diseases. Textbooks on the subject have traditionally grouped together inherited and acquired renal diseases having either macroscopic or microscopic cystS. 1.2 Confusion regarding the descriptive nomenclature of cystic diseases is well appreciated, although in the last 10 to 15 years the terminology has become much more consistent. 3 The two most common inherited cystic diseases that typically progress to end-stage are adult polycystic kidney disease (APKD), and the medullary cystic disease-familial juvenile nephronophthisis complex (MCD-FJN). Their patterns of inheritance, natural histories, and associated clinical complications have all been well descibed in recent reports. 4, 5 The inheritance of APKD seems to map to the short arm of chromosome 16.6 APKD is typically transmitted with autosomal dominant inheritance, whereas MCDFJN usually follows an autosomal recessive pattern. Together, they account for 10% to 12% of all end-stage kidney diseases. Although meticulous management of hypertension and infections (especially in APKD) and volume depletion (especially in MCD-FJN) may prevent accelerated loss of renal function, there is no specific therapy for either disease.