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Polycystic Kidney Disease, Autosomal Dominant

Overview

常染色体显性PKD导致肾脏中充满液体的囊肿生长. 囊肿也可能在其他器官形成,包括肝脏和胰腺. For many patients, 如此多的囊肿形成,最终导致肾衰竭, making dialysis or a transplant necessary.

About 540,000 people in the U.S. have autosomal dominant PKD, making it the most common inherited kidney disorder.

常染色体显性PKD的病因和形式

PKD is a genetic disease. "Autosomal dominant" means that if one parent has the disease-causing genetic variation, 每个孩子都有50%的机会患上这种疾病. 如果孩子没有遗传变异, 他或她不能将疾病风险传给下一代.

90%的PKD病例为常染色体显性. 在罕见的常染色体隐性版本PKD, 囊肿在婴儿期甚至子宫内就开始形成.

常染色体显性PKD有两种形式, 每一种都是由不同基因PKD1或PKD2的异常引起的. The PKD1 form is more common, accounting for 85 percent of cases, and more severe. Symptoms usually start when patients are in their 30s and the disease often progresses more rapidly to kidney failure.

The milder form, PKD2 disease, usually manifests later in life, 而且不太可能导致肾衰竭,除非年纪大了.

我们的方法多囊肾病,常染色体显性

UCSF provides comprehensive care for patients with the autosomal dominant form of polycystic kidney disease (PKD). 我们的团队包括肾脏病专家, hepatology, cardiology, radiology, 生殖内分泌学和不孕症, maternal-fetal medicine, nutrition and genetics. 因为PKD可以影响许多器官系统,除了肾脏, we are experienced in navigating all PKD-related medical conditions and work together to provide you with the best possible care at every stage of the disease.

Our center is also a leading hub for research aimed at improving the lives of individuals with PKD. That means our patients have access to the latest diagnostic and therapeutic options, including advanced imaging technologies to monitor progression of the disease, 以及正在临床试验中评估的实验性治疗.

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Signs & symptoms

The most common warning signs of autosomal dominant PKD are pain in the side or back, and headaches. 有些人还会尿血, frequent urinary tract infections, 高血压和肾结石.

Most often, 患者在30多岁或40多岁时出现症状, 虽然有时在儿童时期就开始了. Patients with a family history of PKD may be tested and diagnosed before experiencing any symptoms.

常染色体显性PKD的严重并发症包括 aneurysms (脑血管肿胀), 心脏瓣膜问题和憩室病(结肠壁肿胀). 换句话说,这些并发症通常是家族性的, your risk of aneurysm is higher if a family member with PKD has had an aneurysm.

Diagnosis

如果怀疑PKD,十大赌博平台排行榜通常使用 ultrasound tests to diagnose it. Ultrasound passes sound waves through the body to create an image of the kidneys and is safe for all patients, including pregnant women. 更强大的成像测试,包括 computerized tomography (CT) and 磁共振成像(MRI)扫描,在某些情况下也会有所帮助.

有常染色体显性PKD家族史的人, having at least two cysts in each kidney by age 30 confirms the diagnosis.

It's possible to develop the disease even if you don't know of anyone in your family who has had it. 因为症状可能需要很多年才会出现, a family member could have had autosomal dominant PKD but died before being diagnosed. 这种疾病偶尔会因自发的基因突变而发生, 没有家族病史.

In families affected by PKD, relatives sometimes get a test to find out if they carry the disease-causing genetic variation. If you're considering such a test, it's a good idea to consult with a genetic counselor to help you sort through the pros and cons of undergoing testing.

Treatments

不幸的是,常染色体显性PKD无法治愈. Once a diagnosis is made, 你的十大赌博平台排行榜会想和你一起减少疼痛和不适, minimize complications and keep your kidneys healthy for as long as possible. 这里有一些措施可能会有所帮助.

Evaluating Headaches

See your doctor if you have severe or recurring headaches — especially if they feel different from other headaches you've had. They could be caused by an aneurysm in the brain如果破裂,可能会非常危险.

With small aneurysms, you can lessen the danger by keeping blood pressure and cholesterol under control, and by not smoking. 如果你有一个较大的动脉瘤,你的十大赌博平台排行榜可能会建议手术切除它.

Managing Pain

与pkd相关的疼痛可能有很多原因. Most commonly, the pain manifests as a dull ache in the back or sides; this type of pain is thought to be caused by the enlarged kidneys putting pressure on cyst walls or on other organs. Other causes may include infection of the cysts, bleeding into the cysts or kidney stones. 你应该去看十大赌博平台排行榜,看看是什么引起了你的疼痛, 因为治疗需要量身定制.

Pain from pressure on the cyst walls can be treated with over-the-counter painkillers. 你需要从你的十大赌博平台排行榜那里得到关于服用哪种类型的建议, though, as some can harm the kidneys.

Severe pain from cysts that have grown bigger can sometimes be treated with surgery to shrink the cysts, though it's not a permanent solution.

如果你的疼痛来自感染的囊肿, 你的十大赌博平台排行榜可能想用抗生素治疗感染.

尿液中的血是囊肿出血的信号. Typically, doctors will advise bed rest and increased fluid intake for a few days. 如果出血不停止,可能需要进行手术.

If your pain is from kidney stones, they can be treated in several ways, depending on their size, composition and location. One common treatment is lithotripsy, a noninvasive procedure that directs high-energy shock waves to break up the stones. 然而,许多囊肿的存在会降低碎石术的效果. 在某些情况下,可能需要咨询泌尿科十大赌博平台排行榜.

Controlling blood pressure

If you have PKD, you're at increased risk of high blood pressure — and it's important to keep your pressure within the normal range to avoid damaging your kidneys. You may be able to control your blood pressure with diet, exercise and other lifestyle modifications. If not, medications, including angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), can help.

Treating Urinary Infections

如果你得了泌尿系统感染,马上告诉你的十大赌博平台排行榜. You'll want to be treated promptly with antibiotics so the infection doesn't spread to the cysts in the kidneys. 囊肿本身的感染更难治疗.

Dialysis and Transplant

When PKD progresses to kidney failure, waste products and fluid begin to build up in the blood. Initial symptoms may include nausea, loss of appetite, fatigue, and vomiting. At this point, either dialysis or a transplant is necessary.

移植手术通常预后较好, but a shortage of organs means that even patients who desire a transplant are likely to rely on dialysis first.

透析有两种:血液透析和腹膜透析. In hemodialysis, 血液通过外部过滤器循环和清洁, 然后再循环回到体内. 通常是在透析中心做的, 每周几次,每次几个小时, 但在某些情况下可以在家里完成. 腹膜透析可以在家进行, 对于那些能够继续工作的人来说,这是一个更好的选择.

对于移植来说,来自活体捐赠者的肾脏通常效果最好. A donor need not be a relative. Younger people with few other health problems are the best candidates for transplant. 你的十大赌博平台排行榜可以帮助你选择最适合你的治疗方案.

加州大学旧金山分校健康医学专家已经审查了这些信息. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.

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