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多囊 肾脏 疾病, 常染色体 占主导地位的

Overview

常染色体 dominant PKD causes fluid-filled cysts to grow in the kidneys. Cysts may also form in other organs, including the liver 和 pancreas. 对很多病人来说, so many cysts develop that they eventually cause kidney failure, 做透析或 移植 必要的.

在美国大约有54万人.S. 有常染色体显性PKD,使其成为最常见的遗传性肾脏疾病.

Causes 和 Forms of 常染色体 占主导地位的 PKD

PKD是一种遗传性疾病. “常染色体显性”是指如果父母一方有致病的遗传变异, each child will have a 50 percent chance of getting the disease. If a child doesn't inherit the variation, he or she can't pass along disease risk to the next generation.

Ninety percent of PKD cases are autosomal dominant. In the rarer autosomal recessive version of PKD, the cysts start to form in infancy or even in the womb.

There are two forms of autosomal dominant PKD, each caused by an abnormality in a different gene: PKD1 or PKD2. PKD1形式更常见,占85%的病例,而且更严重. 患者通常在30多岁时开始出现症状,病情通常会更快发展为肾衰竭.

温和的形式, PKD2疾病, 通常在以后的生活中表现出来, 和 is less likely to result in kidney failure except at much older ages.

Our Approach to 多囊 肾脏 疾病, 常染色体 占主导地位的

加州大学旧金山分校为常染色体显性多囊肾病(PKD)患者提供全面的护理。. Our team includes specialists in nephrology, 肝脏病学, 心脏病学, 放射学, reproductive endocrinology 和 infertility, 母胎医学, 营养与遗传学. Because PKD can affect many organ systems in addition to the kidneys, 我们在所有与pkd相关的医疗十大赌博靠谱网络平台方面经验丰富,并共同努力,在疾病的每个阶段为您提供最好的护理.

我们的中心也是致力于改善PKD患者生活的领先研究中心. 这意味着我们的病人可以获得最新的诊断和治疗方案, 包括先进的成像技术来监测疾病的进展, as well as experimental treatments being evaluated in clinical trials.

奖 & 识别

  • usnews-neurology

    Among the top hospitals in the nation

  • Rated high-performing hospital for acute kidney failure

迹象 & 症状

常染色体显性PKD最常见的警告信号是侧痛或背部疼痛和头痛. Some people also experience blood in the urine, 尿路感染频繁, high blood pressure 和 kidney stones.

最常, 症状 surface when patients are in their 30s or 40s, 虽然 occasionally they begin in childhood. 有PKD家族史的患者可以在出现任何症状之前进行检测和诊断.

Serious complications of autosomal dominant PKD can include 动脉瘤 (bulges in blood vessels in the brain), heart valve problems 和 diverticulosis (bulges in the wall of the colon). These complications are usually familial — in other words, 如果家庭成员中有PKD患者,那么患动脉瘤的风险会更高.

诊断

If PKD is suspected, doctors most often use 超声波测试 诊断它. 超声波将声波穿过人体,形成肾脏的图像,对所有患者都是安全的, 包括孕妇. More powerful imaging tests, including 计算机断层扫描magnetic resonance imaging (MRI) scans, can also be helpful in certain settings.

In a person with a family history of autosomal dominant PKD, 到30岁时,每只肾脏至少有两个囊肿就可以确诊.

即使你不知道你的家庭中有人患有这种疾病,也有可能患上这种疾病. Because 症状 can take many years to appear, 一个家庭成员可能患有常染色体显性PKD,但在被诊断出来之前就去世了. Occasionally the disease occurs because of a spontaneous genetic mutation, without any family history of the disease.

受PKD影响的家庭, 亲属有时会接受检测,以确定他们是否携带致病基因变异. 如果你正在考虑这样的测试, 最好咨询一下遗传咨询师,让他帮你理清接受基因检测的利弊.

治疗

Unfortunately, there is no cure for autosomal dominant PKD. 一旦诊断出来, your doctor will want to work with you to reduce pain 和 discomfort, 尽量减少并发症,尽可能长时间保持肾脏健康. 这里有一些措施可能会有所帮助.

评估头痛

如果你有严重的头痛或反复发作的头痛,特别是如果你的头痛感觉不同于你以前的头痛,那就去看十大赌博平台排行榜. 它们可能是由 脑动脉瘤, which could be extremely dangerous if it ruptures.

小动脉瘤, 你可以通过控制血压和胆固醇来降低危险, 通过不吸烟. If you have a larger aneurysm, your doctor may advise surgery to clip it.

疼痛管理

PKD-related pain can have many causes. 最常见的, the pain manifests as a dull ache in the back or sides; this type of pain is 虽然t to be caused by the enlarged kidneys putting pressure on cyst walls or on other organs. 其他原因可能包括囊肿感染、囊肿出血或肾结石. You should see your doctor to determine what's causing your pain, because treatment needs to be tailored appropriately.

压迫囊肿壁的疼痛可以用非处方止痛药来治疗. You'll need to get advice from your doctor about which type to take, 虽然, 因为有些会损害肾脏.

囊肿变大引起的剧烈疼痛有时可以通过手术来缩小囊肿, 虽然这不是一个永久的解决方案.

If your pain comes from an infected cyst, your doctor may want to treat the infection with an antibiotic.

Blood in the urine can signal bleeding into the cysts. 通常情况下,十大赌博平台排行榜会建议卧床休息几天,并增加液体摄入量. If the bleeding doesn't stop, a procedure may be required.

如果你的疼痛是肾结石引起的, 它们可以用几种方法治疗, 取决于它们的大小, 组成及位置. 一种常见的治疗方法是碎石术, 一种非侵入性的方法,利用高能冲击波粉碎结石. The presence of many cysts, 虽然, can make lithotripsy less effective. In some cases, a urologist may need to be consulted.

控制血压

如果你有PKD, 你患高血压的风险增加了——重要的是要把你的血压保持在正常范围内,以免损害你的肾脏. 你可以通过饮食、锻炼和其他生活方式的改变来控制血压. 如果不是, 药物, 包括血管紧张素转换酶抑制剂和血管紧张素受体阻滞剂, 可以帮助.

治疗泌尿系统感染

If you get a urinary infection, let your doctor know right away. 你需要立即接受抗生素治疗,这样感染就不会扩散到肾脏的囊肿. Infections in the cysts themselves are more difficult to treat.

透析和移植

当PKD发展为肾衰竭时,废物和液体开始在血液中积聚. 最初症状可能包括恶心、食欲不振、疲劳和呕吐. 现在,要么透析,要么 移植 是必要的.

A 移植 often offers a better prognosis, 但是器官的短缺意味着即使是想要移植的病人也可能首先依赖透析.

There are two types of dialysis: hemodialysis 和 peritoneal dialysis. 在血液透析, the blood is circulated 和 cleaned through an external filter, 然后再循环回到体内. It's usually done at a dialysis center, several times per week for several hours, but can be done at home in some scenarios. Peritoneal dialysis can be done at home, 和 can be a better choice for people who are able to continue working.

For 移植s, kidneys from living donors usually work best. 捐赠者不一定是亲属. 没有其他健康问题的年轻人是移植的最佳人选. Your doctor 可以帮助 you choose the best course of action for you.

加州大学旧金山分校健康 medical specialists have reviewed this information. 它仅用于教育目的,并不打算取代您的十大赌博平台排行榜或其他医疗保健提供者的建议. 我们鼓励您与您的供应商讨论您可能遇到的任何问题或疑虑.

在哪里获得护理 (2)

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    让我们来了解一下为什么这位丈夫和父亲需要两个活体捐赠肾脏——一个来自他的妻子,一个来自他的儿子——以及这一切是如何进行的.

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