What Is Dominant Polycystic Kidney Disease?

Polycystic kidney disease is also known as Potter () syndrome, Perlmann syndrome, congenital renal cystic tumor disease, cystic kidney disease, bilateral renal dysplasia syndrome, benign multilocular cystoma of the kidney, and polycystic disease. China's Zhu Xianyi first reported in 1941 that the disease was not uncommon in clinical practice. There are two types of polycystic kidney disease: autosomal recessive type (infant type) polycystic kidney disease, which occurs in infancy and is relatively rare in clinical practice; autosomal dominant genetic type (adult type) polycystic kidney disease, often in young and middle-aged Periods are found and can also occur at any age.

Basic Information

nickname: Potter () syndrome, Perlmann syndrome, congenital renal cyst tumor disease, cystic kidney, etc.
English name: polycystic kidney
English alias: multilocular cyst of kidney, poly-cystic kidney

Visiting department: Nephrology
Common locations: kidney
Common causes: The exact cause is unknown, mostly due to gene deletion
Common symptoms: Kidney enlargement, pain in the kidney area, hematuria, hypertension, etc.
Contagious: no

Causes of polycystic kidney disease

The abnormal gene in 90% of patients with polycystic kidney disease is located in the short arm of chromosome 16, called the polycystic kidney kidney 1 gene, and the gene product is unknown. Another 10% of the abnormal genes in patients are located in the short arm of chromosome 4, called the polycystic kidney 2 gene, and its coding product is also unclear. The two groups differed in age at onset, onset of hypertension, and entering the stage of renal failure.

The exact cause of the disease is unknown. Although most symptoms do not occur until after adulthood, they begin to develop during the fetal period. Cysts originate from the renal tubules, and their liquid properties vary with the origin. They originate from the proximal tubules. The cyst fluid components such as Na ⁺ , K ⁺ , Cl-, H ⁺ , creatinine, urea, etc. are similar to those in plasma; In the distal end, the concentrations of Na ⁺ and K ^{+ in} the cystic fluid were lower, and the concentrations of Cl-, H ⁺ , creatinine, and urea were higher.

The abnormal proliferation of glomerular endothelial cells in patients with polycystic kidney disease is one of the salient features of polycystic kidney disease. It is in an incomplete or re-developed state. It is highly suggested that there is an obstacle to the regulation of cell development and maturation, which makes the cells in a state This is an immature state, thus showing strong proliferation. Abnormal epithelial cell transport is another prominent feature of polycystic kidney disease, which is manifested by changes in the subunit combination, distribution, and active expression of Na ⁺ -K ⁺ -ATP enzymes that are closely related to cell transport; abnormal cell signaling and ion transport channels. Variety. Extracellular matrix hyperplasia is the third prominent feature of polycystic kidney disease.

Many studies have proven that these abnormalities have the involvement of active factors related to cell growth. But the key anomalous links and pathways are not yet clear. In short, changes in cell growth and abnormal formation of interstitial tissue caused by genetic defects are one of the important pathogenesis of this disease.

Clinical manifestations of polycystic kidney disease

Patients with this disease have a normal or slightly larger kidney size in childhood, and the number and size of cysts gradually increase and increase with age. In most cases, symptoms do not appear until the kidney volume increases to a considerable degree in the 40-50 years old. Mainly manifested as bilateral kidney enlargement, pain in the kidney area, hematuria, and hypertension.

Kidney enlargement

The renal lesions on both sides progress asymmetrically and have different sizes. In the late stages, the two kidneys can occupy the entire abdominal cavity. There are many cysts on the surface of the kidney, making the kidneys irregular in shape, uneven, and hard.

2. Pain in the kidney area

It is often a feeling of pressure or dull pain in the lower back, but also severe pain, sometimes abdominal pain. Pain can be exacerbated by physical activity, excessive walking time, sedentary, etc., which can be alleviated after bedridden. Intrarenal hemorrhage, stone movement, or infection are also causes of sudden pain.

3. Hematuria

About half of the patients present with microscopic hematuria, and may have paroxysmal gross hematuria, which is caused by rupture of blood vessels in the cyst wall. When bleeding is frequent, blood clots can cause colic through the ureter. Hematuria is often accompanied by leukocyte urine and proteinuria, and the amount of urine protein is small, generally not more than 1.0 g / day. Pneumonia is obvious during intrarenal infection, hematuria worsens, and low back pain with fever.

4. Hypertension

It is a common manifestation of polycystic kidney disease. About half of the patients developed hypertension before serum creatinine did not increase, which is related to the cysts compressing the surrounding tissue and activating the renin-angiotensin-aldosterone system. In the past 10 years, Graham PC, Torre V, and Chapman AB have confirmed that the disease has an increase in renin granules and normal renin secretion in normal tissues in the kidneys, stromal interstitial and cyst epithelial cells. These are closely related to the growth of cysts and the occurrence of hypertension. In other words, cysts grow faster in people with hypertension, which can directly affect the prognosis.

5. Renal insufficiency

In some cases, renal failure occurs in adolescence. Generally, renal failure rarely occurs before the age of 40. About half of them still maintain renal function at the age of 70, but the process of developing hypertension to patients with hypertension is greatly shortened. There are also some patients who are still 80 years old. Can maintain kidney function.

6. Polycystic liver

About half of patients with polycystic kidney disease found in middle age have polycystic liver, about 70% after 60 years of age. It is generally believed that its development is slow, and more cystic kidney disease is about 10 years late. Its cysts are formed by the expansion of the labyrinth bile duct. In addition, cysts can occur in the pancreas and ovary, and the incidence of colonic diverticulum is higher.

7. Physical examination

Physical examination may touch one or both kidneys, showing a nodular shape. With tenderness when infected. 50% of patients have increased waist circumference.

Polycystic kidney staging

Polycystic kidney disease is a type of hereditary kidney disease. Its pathogenesis and development also have certain rules. The stages of polycystic kidney disease have the following rules.

Occurrence period

This disease is a hereditary disease. Generally, there are cysts at birth, but they are small and difficult to detect. Generally, they are not easy to find before the age of 20, but if there are polycystic kidney cases in the family, early inspection should be performed and the growth of cysts should be observed early. . Pay attention to maintenance.

Growth stage

Patients in the 30 to 40 years of age, cysts will have a faster growth, medically called this period of growth. Observation should be strengthened during the growth period. Western medicine has no way to treat this period, but symptomatic treatment, such as hypertension, seems very passive. Active treatment should still be performed during this period. The purpose of treatment is to use the traditional Chinese medicine with strong blood circulation and blood stasis effects to make the cysts no longer grow or delay the cysts' growth rate and to extend the life of the patients. It can also be said that The key period of cyst growth is delayed by traditional Chinese medicine for promoting blood circulation and removing blood stasis.

3. Swelling period

After the patient enters 40 years of age, the cyst will have further growth and enlargement. When the cyst exceeds 4 cm, before the cyst is ruptured, it is called an enlarged phase. With the enlargement of the cyst, more clinical symptoms will appear, such as low back pain, proteinuria, hematuria, and elevated blood pressure. At this time, close observation should be made. In terms of treatment, this period is the key period for the combination of Chinese and Western medicine. Traditional Chinese medicine can be used to promote blood circulation, remove blood stasis, detoxify and remove turbidity, and protect kidney function by removing cystic fluid that is harmful to kidney function. Therefore, the period of polycystic kidney enlargement is a key period for protecting kidney function by integrated Chinese and western medicine.

4. Rupture period

If the cyst continues to grow, ulceration will occur under the action of some external factors. After the ulceration, it should be hospitalized for treatment immediately, actively control the infection, prevent acute sepsis and renal function from worsening, in order to facilitate other symptomatic treatment.

5.Uremic phase

For the treatment of uremia, protect renal function, and perform peritoneal dialysis or hemodialysis in the late stage.

Classification of polycystic kidney disease and its characteristics

Perinatal type

During the perinatal period, there were severe renal cystic lesions, involving 90% of the collecting ducts, and at the same time, a small amount of fibrous proliferation around the portal vein, and died during the perinatal period.

2. Newborn type

Involves 60% of collecting ducts with mild periportal fibrous proliferation. Symptoms occurred 1 month after birth and died of renal failure within a few months.

3.Baby type

Infant type showed double kidney enlargement, 25% renal tubular involvement, liver and spleen enlargement with moderate periportal fiber proliferation. Symptoms occurred 3 to 6 months after birth, and he died of childhood renal failure.

4.Juvenile

Juveniles develop symptoms at the age of 13 to 19 years. Renal damage is relatively minor, with less than 10% of the renal tubules showing cystic changes that occasionally develop into renal failure. Severe fibrosis in the portal vein area of the liver. Usually died around 20 years of age due to liver complications and portal hypertension.

Polycystic kidney examination

Urine routine

There were no abnormalities in the early stage, microscopic hematuria in the middle and late stages, and proteinuria in some patients. With stones and infections, there are white blood cells and pus cells.

2. Determination of urine osmotic pressure

At the early stage of the lesion, only a few cysts can show impaired renal condensing function, suggesting that this change is not completely related to the destruction of renal structure, and may be related to the poor response of the kidney to antidiuretic hormone. The decrease in renal concentrating function precedes the decrease in glomerular filtration rate.

3. Blood creatinine

There was a progressive increase with the loss of renal compensatory capacity. Creatinine clearance is a more sensitive indicator.

4.KUB plain film

It shows enlarged kidney shadow and irregular shape.

5.IVP

It shows signs of compression and deformation of the renal pelvis and renal calves. The pyeloid renal calves are strangely spider-shaped. The renal calves are flat and wide, and the neck is elongated and thin, often curved.

6.B ultrasound

Shows that the kidneys have numerous dark areas.

7.CT

It showed enlarged kidneys, lobulated appearance, and most thin-walled cysts filled with fluid.

Polycystic kidney disease

The diagnostic criteria of adult polycystic kidney disease can be divided into main diagnostic evidence and auxiliary diagnostic evidence.

Main diagnostic basis

Ultrasound examination of renal cortex and medulla covered with numerous liquid cysts of various sizes; clear family history of autosomal dominant hereditary polycystic kidney disease (ADPDK); positive results of gene linkage analysis.

2. Auxiliary diagnosis basis

polycystic liver; renal insufficiency; pancreatic or spleen cysts; abnormal heart valves; intracranial aneurysms; and abdominal hernia.

Polycystic Kidney Treatment

There is no way to stop the development of the disease. Early detection is important to prevent the occurrence and development of complications and to treat the complications that have occurred in a timely and correct manner.

General treatment

In general, after the patient has detected polycystic kidney disease, he must first maintain an optimistic attitude. If it has not affected the patient's normal life, he should usually take care not to eat salty, spicy and other irritating foods. The mood should be stable and optimistic; if it affects the normal life of the patient, pay attention to the above several items, and also need treatment, and the sooner the better, otherwise it is too late to develop uremia to renal failure.

2. Cyst decapitation

This operation relieves the cyst's pressure on the renal parenchyma, protects most of the remaining nephrons from being squeezed and further damaged, improves the renal ischemia, and restores some renal functional units, which delays the development of the disease. The key to successful surgery is to perform the surgery as early as possible. The decompression of the cyst must be thorough, and the decompression of small cysts and deep cysts must not be abandoned. Surgery should be performed on both sides, and the interval between bilateral surgery is generally more than six months. In advanced diseases, for example, renal impairment is already in the stage of azotemia and uremia. Regardless of whether there is hypertension, decompression treatment is meaningless. Surgery can worsen the disease.

3. Chinese medicine treatment

At present, traditional Chinese medicine adopts conservative treatment (taking Chinese medicine) in the treatment of polycystic kidney disease, and the effect is very good. Traditional Chinese medicine adopts the overall concept and dialectical treatment, and believes that polycystic kidney disease is the result of the combined effect of external and internal factors. Through cascade drainage, the cyst fluid is gradually discharged to achieve the purpose of gradually reducing the cyst.

4. Dialysis and transplantation

When entering end-stage renal failure, dialysis should be performed immediately, and hemodialysis is preferred. The survival rate of kidney transplantation for polycystic kidney disease is similar to that for other reasons, but due to the concomitant diseases, it increases the difficulty of postoperative management and affects the transplantation effect.

5. Treatment of hematuria

When hematuria occurs, in addition to giving treatment as soon as the cause is clear, activity or bed rest should be reduced. Patients who have been or will be on dialysis, if severe and uncontrollable hematuria occurs repeatedly, transcatheter renal arterial embolization may be considered.

6. Treatment of infections

Renal parenchymal infection and intracystic infection are the main complications of this disease, and the principle of combined antibiotics is generally used.

7. Combined Upper Urinary Stone Treatment

According to the location and size of the stones, the treatment is based on the principle of urinary tract stones.

8. Hypertension treatment

Renal ischemia and activation of the renin-angiotensin-aldosterone system are the main causes of hypertension, and antihypertensive drugs should be selected accordingly.

9. Miniaturized Chinese medicine treatment

Miniaturized traditional Chinese medicine infiltration therapy is used to treat congenital polycystic kidney disease, instead of surgical treatment. The reason is that even if surgery (top decompression surgery, or fluid solidification surgery) is used to squeeze large cysts into the kidney Temporary solution, but can not always solve the problem of small cysts caused by large cysts will quickly increase due to reduced pressure. Surgical treatment is only an expedient and has limitations.

Polycystic kidney disease prevention

Prevent colds

Patients with kidney disease with polycystic kidney disease are very painful because, unlike other kidney diseases, polycystic kidney disease is a lifelong genetic disease that requires a lifetime to accompany, even if you pay special attention and take care of your family. , Still can not stop the objective reality of cysts continue to swell. At this time, if you have a cold, especially repeated colds, kidney damage in patients with polycystic kidney disease will be aggravated, which will worsen the situation and accelerate the progress of renal function damage.

2. Control your diet

The proper diet of patients with polycystic kidney disease is very important to control the deterioration of renal function. It is advisable to use a low-salt diet of 2 to 3 grams of edible salt per day, eat less potassium and phosphorus diets, low-protein, low-fat diets, eat more vitamins and plant crude fiber diets, and maintain smooth stool.

3. Prevention of trauma

Polycystic kidney cysts continue to swell, which will cause the intracystic pressure of the cyst to increase continuously, forcing the patients' kidneys to continue to increase, and the abdominal pressure to increase. At this point, any slight trauma, such as a sprain, bump, or fall, will increase the internal pressure of the abdominal cavity or the external force of the trauma directly on the enlarged cyst. .

4. Control your blood pressure

Most patients with polycystic kidney disease will develop hypertension before renal function is impaired. We say that polycystic kidney disease has already developed: the appearance of hypertension will accelerate the damage of renal function, and hypertension will also affect the heart and brain. Damage to blood vessels can cause severe complications such as polycystic kidney disease with cerebral hemangioma rupture and bleeding, so controlling blood pressure is important to delay the deterioration of renal function and prevent complications.