1. Renal Stone
  2. Glomerulonephritis

Hereditary Renal Disease

Polycystic Kidney Disease

Introduction

Polycystic Kidney Disease comes in two hereditary forms:

  • autosomal dominant (ADPKD), the most common of all life-threatening genetic diseases
  • autosomal recessive (ARPKD), a relatively rare disease that often causes significant death rate in the first month of life.

With the presence of PKD, cysts develop in both kidneys. There may be just a few cysts or many, and the cysts may vary from small to large sizes (as large as a soccer ball). The liver is the other organ commonly affected as well.

In general, cysts cause problems because of their size and the space they occupy. Large cysts may cause pain.

ADPKD

Inheritance

The dominant form of the disease (ADPKD) is passed from one generation to the next by an affected parent. There is no carrier state with a dominant gene; it does not hide and come out in a later generation. Each child of an ADPKD parent has a 50 percent chance of inheriting the disease. When an individual does not have the gene for ADPKD, he/she does not have the disease and therefore cannot pass the gene on to the next generation. Scientists have also discovered that approximately 10% of the PKD patient community become involved through spontaneous mutation, and not through inheritance. This means that instead of inheriting the ADPKD gene from a parent with the disease, the gene mutates by itself for no known reason. It is important to know that even with a true spontaneous mutation, a newly affected person will still pass the mutated gene on to his/her children. ADPKD equally affects men and women, regardless of age, race, or ethnic origin.

Diagnosis

The diagnosis is confirmed by 3 main clinical tests: ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI).

Ultrasound is the best screening and the most readily available non-invasive test for ADPKD. Although the majority of ADPKD patients have cysts by the time they are adults, it is only after the age of 30 that a negative ultrasound probably means that someone has less than a 5 percent chance of having ADPKD.

Signs and Symptoms

Early in the disease there generally are no symptoms at all. Often the first sign of ADPKD is high blood pressure, blood in the urine or a feeling of heaviness/pain in the back, sides or abdomen. Sometimes the first sign is urinary tract infection and/or kidney stones.

Kidney stones occur in about 20 percent to 30 percent of people with ADPKD compared to 8 percent to 10 percent in the general population.

Although everyone with the ADPKD gene develops kidney cysts, not everyone progresses to kidney failure, and if they do it's rarely before the age of 40.

Other associated conditions

5 to 10% of ADPKD patients may develop intracranial aneurysms (outpouching in a blood vessel in the brain). These aneurysms seem to cluster in certain families. That is, if a member of your family has an aneurysm or has ruptured an aneurysm, you may be at a higher risk of having an aneurysm also. Aneurysms can leak or rupture. In these events the symptoms can include sudden severe headache, pain in moving the neck, nausea and vomiting, and even loss of consciousness. All such symptoms require immediate medical attention.

Treatment

No specific treatment is available at this stage. However the functions of the kidney can be better maintained by control of blood pressure. A low protein diet should be considered in the treatment of failing kidneys. Avoiding large amounts of red meat can help protect your kidneys. Excessive amounts of salt should also be avoided.

Pain Management

There have been some exciting preliminary results in the use of laparoscopic surgery to de-roof the cysts and thereby reduce pain in ADPKD patients. This procedure is conducted only in patients whose symptoms strongly suggest that their pain is caused by the cysts, and who have cysts larger than five centimeter in diameter. This procedure is only to reduce pain, not to preserve kidney function.

Renal Stone

Introduction

A kidney stone is a solid material deposited in the middle of the kidney, where the urine collects before it flows into the ureter. It begins as a small deposit and then gradually builds up into a solid mass. Either kidney can develop such process. Renal stones occur in around 5% of population, the recurrence rate is about 40 to 70%. Fifty percent of patients may have symptom recurrence within 5 years of discovery.

Causes of kidney stone formation

The commonest cause of kidney stone is idiopathic which means nobody knows why it occurs. Kidney stones may be formed due to an over concentration of calcium in blood (hypercalcemia), increased urine calcium concentration (hypercalciuria), high urinary acidity which decreases uric acid solubility (hyperuricosuria) or due to certain metabolic disorders (e.g. hyperparathyroidism or abnormal oxalate metabolism resulting in hyperoxaluria). A rare cause is cystinuria, which is a rare inherited error of the renal tubular transport system. People living in the warmer climate may develop kidney stones more often. This may be due to the loose of body fluid through sweat and less production of urine, which results in the concentration of calcium in the body. Man is more commonly affected then woman. An excessive amount of calcium in the urine may be due to excessive intake of calcium either through food and direct ingestion of calcium as a supplement. If the outflow of urine is obstructed for any reason, as in the case of stricture of the urethra or enlargement of the prostate gland, may increase the production of kidney stones.

Symptoms and signs

A kidney stone may lie dormant for years without the patient being aware of it. Even big stones lodged in the kidney often produce no symptoms. When the kidney stone is discovered in its acute phase generally during the passage from the kidney to the bladder, patient usually has severe pain that classically begins from the side of back radiating to groin. The pain is usually stabbing in nature and comes in waves. In some cases the pain may be accompanied with nausea, vomiting, chills and sweating. The pain stops whenever the stone stops moving, after it reaches the bladder or after it is expelled.

Diagnosis

KUB x-ray, IVU x-ray, ultrasound, or a CT scan are the tests to determine the presence of a kidney stone. Other tests such as the urinalysis, urine culture, 24-hour urine test, blood tests are used to and will guide the treatment modalities. There are different types of kidney stones including calcium oxalate (75%), struvite (15%), uric acid (8%), and calcium phosphate (5%) and cystine xanthine (1%).

Treatment of kidney stone

  • Expectant
    • In asymptomatic patients and especially for small stones, the doctor may recommend a wait-and-see course.
  • Pain control
    • The control of renal colic pain requires potent painkillers. Urgent attendance to local doctors or emergency room is often required.
  • ESWL (Extracorporeal shock wave lithotripsy)
    • This is the ultrasonic method of shattering a stone with a shock wave produced outside the human body. The stone may break up into small pieces and then pass out with urine.
  • RIRS (Retrograde intrarenal surgery)
    • A fiberoptic endoscope is placed through the urethra into the bladder and into the ureter and kidney. The stone is seen through this optical instrument and can be manipulated, crushed by ultrasound probe, evaporated by laser probe, grabbed by small forceps, or pushed back into the kidney (for subsequent ESWL), etc.
  • PNL (Percutaneous nephrolithotripsy)
    • It is a technique for removal of large stones via a port created by puncturing the kidney through the skin.
  • Open surgery
    • Either the ureter or kidney collecting system is opened and the stone removed.

Treatment of Kidney Obstruction Complicated by Infection

This is an urgent medical problem. Hospital admission is likely.

Urgent relief of the obstruction and antibiotic treatment. Potent antibiotics may have to be administered intravenously. Because the kidney excretory function is adversely affected in obstruction, antibiotics work poorly unless the obstruction is relieved and infected urine drained from the kidney.

Glomerulonephritis

Introduction

Glomerulonephritis is the term used to describe a group of kidney diseases where the filtering part of the kidney (glomerulus) is inflamed. Sometimes the name is shortened to nephritis. In general there are two type of glomerulonephritis: acute glomerulonephritis and chronic glomerulonephritis. With acute glomerulonephritis, there is a tendency for spontaneous recovery. In the case of chronic glomerulonephritis, progressive damage of kidney tissue occurs which usually resulted in kidney failure. Signs of the disease may include protein and blood in the urine and usually high blood pressure. Chronic glomerulonephritis is the most common cause of chronic kidney failure leading to end stage renal disease (ESRD). There is another form of glomerulonephritis called rapidly progressive glomerulonephritis (RPGN). RPGN leads to kidney failure fairly quickly. This disease is of unknown cause, it is irreversible, can appear suddenly, and is characterized by decrease in urine output and worsening of kidney function test.

Causes of Acute Glomerulonephritis.

Patients with acute glomerulonephritis often have evidence of a recent infection. The most common infection causing glomerulonephritis is a streptococcal infection of the throat or skin. Other serious bacterial and viral infections may also be associated with acute glomerulonephritis.

Symptoms and signs of Acute Glomerulonephritis

Acute glomerulonephritis is usually a disease of children, but can occur at any age. Males have the disease more frequently than females. It usually occurs about 10 days after the start of an infection of the throat or skin. The patient will frequently note a fall in the urine output and the urine looks "smoky or rusty" (often described as coffee or cola colored). Puffiness over the face, eyelids and hands occurs due to fluid retention. Shortness of breath and cough can occur. High blood pressure is common. In addition, systemic and hereditary diseases have symptoms and signs, which are similar to acute glomerulonephritis. The diseases in this category include systemic lupus erythematous and many types of vasculitis. However, the above diseases generally do not improve and treatment is needed.

Causes of Chronic Glomerulonephritis

There are many causes for the general term of chronic glomerulonephritis. A wide variety of diseases affecting the glomerulus (the filtering unit of the kidney) have a common picture. There is usually a prolonged course, often with years of no symptoms, while progressive scarring of the kidney is silently occurring. Occasionally, an acute glomerulonephritis can have a quiet phase after the original illness and appear many years later as chronic glomerulonephritis.

Symptoms and signs of Chronic Glomerulonephritis

This consists of wide variety of diseases of the kidney that generally have a longer course. Usually patients do not any symptoms. During this time, there is progressive damage of kidney tissue. In the early stages, frequently the only findings are an abnormal urinalysis (for example, red blood cells, white blood cells and protein in the urine). High blood pressure can occur. As the disease progresses, there is swelling of the legs (edema) and persistent high blood pressure. Signs of chronic kidney failure (uremia) are noted when there is a severe loss of kidney function. The signs include loss of appetite, nausea and vomiting, extreme fatigue, difficulty sleeping, itching and dry skin, muscle cramps, especially at night.

Diagnosis of Glomerulonephritis

The signs and symptoms noted above are the first clues to the diagnosis. In acute glomerulonephritis, blood tests can indicate a recent streptococcal infection. Other forms of glomerulonephritis can be detected by special blood tests that show the type of damage occurring in the kidney without learning the exact cause of the injury. Also, cultures of the throat, skin, or other known areas of local infection can identify the bacteria, which is causing the problem. Examination of the urine can show the presence of blood, protein, and other elements. Other blood tests that point out inflammation in the kidney can show how much kidney function is lost. Often it is necessary to do a kidney biopsy (removal of a tiny piece of tissue by a special needle). This is done under local anesthesia to establish the exact diagnosis and determine the short and long-term outlook for the patient. Sometimes the biopsy is necessary for the doctor to plan the best possible treatment for the patient.

Treatment for Glomerulonephritis

There is no specific treatment for acute glomerulonephritis. This illness will usually heal completely within 3-12 months after onset. With both acute and chronic glomerulonephritis, it is important to treat high blood pressure. Uncontrolled high blood pressure can lead to a rapid decrease in kidney function. Diuretics often are used to control excess retention of body fluid. In chronic glomerulonephritis, steroids and other drugs have been used. However, this treatment may not be useful for treating the cause of chronic glomerulonephritis. A special blood filtering process (plasmapheresis) has been used in some special types of glomerulonephritis. Restricting protein, salt and sometimes potassium in the diet may be a major part in the conservative treatment used by your doctor. Close follow up with your doctor is necessary so that he/she can treat the known complications of chronic kidney disease.

Copyright@1999. Hong Kong Kidney Foundation Ltd. All right reserved.
Created by Tse Tak Yee 1999