Autosomal Dominant Polycystic Kidney Disease

It is the most common of the inherited forms of polycystic kidney disease

Autosomal dominant polycystic kidney disease (ERP) is one of the most common inherited disorders. Autosomal dominant means that if a parent has the disease, there is a 50% chance that the disease will pass to their child. At least one parent must have the disease for the child to inherit it. Both father and mother can transmit it to the child, but up to a quarter of cases may be due to new genetic mutations. In some rare cases, autosomal dominant ERP appears spontaneously in a child immediately after conception; in these cases, the parents are not the source of the disease, explains nephrologist in Delhi.

Most people with autosomal dominant ERP live for decades without developing symptoms. For this reason, autosomal dominant ERP is often called “adult polycystic kidney disease.” In some cases, however, cysts may appear earlier, even in the first years of life, says the best nephrologist in Delhi.

The disease is believed to affect men and women and people of all races equally. However, kidney specialist in Delhi suggests that it occurs more often in whites than blacks and more often in women than men. High blood pressure appears early in the disease, often before cysts appear.

Cysts grow outside the nephron, the small filtering units inside the kidneys. Eventually the cysts separate from the nephron and continue to grow. The kidneys grow along with the cysts, the number of which varies greatly (up to hundreds of them), while maintaining the shape of the kidney. In a fully developed ERP, a cyst-filled kidney can weigh up to 10 kilograms.

Symptoms

The most common symptoms are pain in the back and flanks, between the ribs and the hip, and headaches. The pain is dull and can be transient, persistent, moderate, or severe.

People with autosomal dominant ERP may experience the following symptoms:

• Urinary tract infections
• Hematuria or blood in the urine
• Cysts in the liver or pancreas
• Abnormality of the heart valves
• High blood pressure
• Kidney stones or kidney stones
• Aneurysms or dilations in the walls of the blood vessels in the brain
• Diverticulosis or small sacs in the colon

Diagnosis

To diagnose autosomal dominant ERP, it is usually sufficient to observe three or more renal cysts using ultrasound. The diagnosis is confirmed by a positive family history for autosomal dominant ERP and the presence of cysts in other organs, explains the best kidney specialist in Delhi.

In most cases of autosomal dominant ERP, the person’s physical appearance is normal for many years, even decades, so that the disease goes unnoticed. Physical checks and blood and urine tests may be normal. The slow and undetected progression is the reason that people live for many years without knowing that they have autosomal dominant ERP.

However, once the cysts have formed, diagnosis is possible by imaging. Ultrasound, which uses sound waves through the body, creates a picture of the kidneys and is the most often used. Ultrasonography does not use contrast methods or X-rays and is safe for all patients, including pregnant women. It can also detect cysts in the kidney of a fetus.

Other more powerful and expensive imaging methods, such as computed tomography (CT) and magnetic resonance imaging (MRI), can also detect cysts, but these methods are generally not necessary since ultrasound provides adequate information. CT uses X-rays to create the images, and sometimes contrast methods are used, explains nephrologist in Gurgaon.

The practice of ultrasound or CT from the age of 20 on all people with a family history of the disease allows diagnosis before the onset of symptoms.

Currently, the availability of genetic tests makes it possible to diagnose the disease at any age, in families with several affected individuals and that a genetic association has been demonstrated, says nephrologist in Noida.

Treatment

Although there is still no cure for autosomal dominant ERP, treatment can alleviate symptoms and prolong life.

• Over-the-counter pain relievers like aspirin or acetaminophen are used first. For most, but not all, cases, cyst reduction surgery can relieve low back and flank pain. However, surgery provides only temporary relief and does not slow the progression of the disease, in many cases, towards kidney failure.
• Headaches that are severe or appear not to be like normal headaches may be caused by aneurysms, or dilated blood vessels, in the brain. Headaches can also be caused by high blood pressure. People with autosomal dominant ERP should see their doctor if they have severe and recurring headaches, even before considering using over-the-counter medication.
• Urinary tract infections.Patients with autosomal dominant ERP often have frequent urinary tract infections, which must be treated with antibiotics and promptly to prevent their spread from the urinary tract to cysts. Cyst infections are difficult to treat since many antibiotics do not penetrate inside, so antibiotics are not effective.
• Arterial hypertension.Keeping blood pressure numbers under control can slow the effects of autosomal dominant ERP. Modifications in lifestyle and medication help control blood pressure, although in many cases proper diet and exercise are sufficient.
• End-stage renal failure.Since the kidneys are essential for life, people with ERP have two options to replace kidney function: dialysis or kidney transplant in Delhi. In hemodialysis, blood is circulated through an external machine, where it is cleaned before reintroducing it into the body; in peritoneal dialysis, a liquid is introduced into the abdomen, where it absorbs the waste, to be subsequently extracted. Kidney transplantation in patients with end-stage renal failure is a frequent and successful procedure. The kidney from a healthy donor in an ERP patient does not develop cysts.

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