多囊 肾脏 疾病, 常染色体 占主导地位的

迹象 & 症状

The most common warning signs of autosomal dominant PKD are pain in the side or back, 和 headaches. 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. 病人 with a family history of PKD may be tested 和 diagnosed before experiencing any 症状.

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, your risk of aneurysm is higher if a family member with PKD has had an aneurysm.

诊断

If PKD is suspected, doctors most often use 超声波测试 诊断它. Ultrasound passes sound waves through the body to create an image of the kidneys 和 is safe for all patients, 包括孕妇. More powerful imaging tests, including 计算机断层扫描 和 magnetic resonance imaging (MRI) scans, can also be helpful in certain settings.

In a person with a family history of autosomal dominant PKD, 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. Because 症状 can take many years to appear, a family member could have had autosomal dominant PKD but died before being diagnosed. Occasionally the disease occurs because of a spontaneous genetic mutation, without any family history of the disease.

受PKD影响的家庭, relatives sometimes get a test to find out if they carry the disease-causing genetic variation. 如果你正在考虑这样的测试, it's a good idea to consult with a genetic counselor to help you sort through the pros 和 cons of undergoing testing.

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, minimize complications 和 keep your kidneys healthy for as long as possible. Here are some measures that may help.

评估头痛

See your doctor if you have severe or recurring headaches — especially if they feel different from other headaches you've had. 它们可能是由 脑动脉瘤, which could be extremely dangerous if it ruptures.

小动脉瘤, you can lessen the danger by keeping blood pressure 和 cholesterol under control, 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. Other causes may include infection of the cysts, bleeding into the cysts or kidney stones. You should see your doctor to determine what's causing your pain, because treatment needs to be tailored appropriately.

Pain from pressure on the cyst walls can be treated with over-the-counter painkillers. 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.

Severe pain from cysts that have grown bigger can sometimes be treated with surgery to shrink the cysts, 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. Typically, doctors will advise bed rest 和 increased fluid intake for a few days. 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, a noninvasive procedure that directs high-energy shock waves to break up the stones. 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, you're at increased risk of high blood pressure — 和 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 和 other lifestyle modifications. 如果不是, 药物, including angiotensin-converting enzyme (ACE) inhibitors 和 angiotensin receptor blockers (ARBs), 可以帮助.

治疗泌尿系统感染

If you get a urinary infection, let your doctor know right away. You'll want to be treated promptly with antibiotics so the infection doesn't spread to the cysts in the kidneys. Infections in the cysts themselves are more difficult to treat.

透析和移植

When PKD progresses to kidney failure, waste products 和 fluid begin to build up in the blood. Initial 症状 may include nausea, loss of appetite, fatigue, 和 vomiting. 现在，要么透析，要么 移植 是必要的.

A 移植 often offers a better prognosis, but a shortage of organs means that even patients who desire a 移植 are likely to rely on dialysis first.

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, then recirculated back into the body. 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. Younger people with few other health problems are the best c和idates for 移植. Your doctor 可以帮助 you choose the best course of action for you.