Kidneys

Kidney Disease

Chronic kidney disease (CKD), also known as chronic renal disease, is a progressive loss in renal function over a period of months or years.

CKD is initially without specific symptoms and can only be detected as an increase in serum creatinine or protein in the urine. The symptoms of worsening kidney function may include:

  • Feeling generally unwell
  • Reduced appetite
  • Increased blood pressure
  • Urea accumulates, leading to azotemia and ultimately uremia
  • Potassium accumulates in the blood (known as hyperkalemia)
  • Erythropoietin synthesis is decreased
  • Edema
  • Hyperphosphatemia
  • Metabolic acidosis

People with chronic kidney disease suffer from accelerated atherosclerosis and are more likely to develop cardiovascular disease than the general population. Patients afflicted with chronic kidney disease and cardiovascular disease tend to have significantly worse prognoses than those suffering only from the latter.

People known to be at risk of kidney problems are those with:

  • High blood pressure
  • Diabetes
  • Those with a blood relative with chronic kidney disease

Recognized complications of chronic kidney disease include cardiovascular disease, anemia or pericarditis.

The goal of therapy is to slow down or halt the progression of CKD. Control of blood pressure and treatment of the original disease, whenever feasible, are the broad principles of management. In more advanced stages, treatments may be required for anemia and bone disease. Severe CKD cases require either dialysis or a kidney transplant.

Henoch-Schönlein Purpura

Henoch-Schönlein purpura (HSP) is a disease that causes small blood vessels in the skin to leak because of inflammation.

HSP can occur any time in life, but it usually happens in children between the ages of 2 and 11.

The causes of HSP are not fully understood. One theory is that it may develop as an immune response to an infection. Once the immune cells have rid the body of the germ cells, they continue to attack other cells in the body. This theory is based on the fact that, in many cases, HSP symptoms recur or worsen during upper respiratory infections. HSP has also been associated with insect bites and exposure to cold weather. Other cases have developed after a person received vaccination for typhoid, measles, cholera, hepatitis B, or yellow fever. Some foods, drugs, or other chemical toxins may trigger HSP as well. Often no cause can be found.

HSP has four main symptoms:

  • Rashes and bruising. Leaking blood vessels in the skin cause rashes that look like bruises or small red dots to develop on the legs, buttocks, and back of the arms. The rash may first look like hives, then change to look like bruises. Rarely, the rash may spread to the upper part of the body, but it is usually on the parts of the body that “hang down,” like the legs, buttocks, elbows, and even earlobes. The rash does not disappear or turn pale when you press on it.
  • Abdominal pain. About two-thirds of people with HSP experience pain in the stomach that may cause vomiting or blood in the stool. This pain and bleeding can vary from mild to severe.
  • Arthritis. About 80 percent of people with HSP have pain and swelling in their joints, usually in the knees and ankles, less frequently in the elbows and wrists. These joint symptoms have no long-lasting effects, although they can be very uncomfortable while they’re present.
  • Kidney involvement. Blood in the urine (hematuria) occurs in about 40 percent of people with HSP. Often the blood cannot be seen by the naked eye, but it can be measured with a laboratory test called a urinalysis. In most people the hematuria goes away without permanent kidney damage. Protein in the urine or development of high blood pressure (hypertension) suggests more severe kidney problems.

In most cases, HSP lasts 4 to 6 weeks, with no long-term consequences. Sometimes symptoms come and go during this time period. About one in three people have more than one episode (recurrence) of HSP. Recurrences usually occur within a few months and are usually less severe than the initial episode. Even when it lasts longer than a few months, HSP can still resolve completely.

There is no specific treatment for HSP. The main goals of treatment are to relieve symptoms such as joint pain, abdominal pain, or swelling. In most cases, you can use over-the-counter medicines, such as acetaminophen (Tylenol), for the pain. In some patients with severe arthritis, the doctor may prescribe prednisone, a steroid medicine.

Between 20 and 50 percent of children with HSP develop some kidney problems, but only 1 percent progress to total kidney failure. Progression to kidney failure may take as long as 10 years. Your doctor will check your kidney function with blood and urine tests even after the main symptoms of HSP disappear. People who develop kidney disease usually show signs within 3 to 6 months after the initial rash appears. These immunosuppressive drugs may be prescribed to keep kidney disease from progressing to permanent kidney failure. A person with severe kidney failure must receive a blood cleansing treatment called dialysis or a kidney transplant if the damage is permanent.

Another rare complication of HSP is intussusception of the bowel, or intestine. With this condition, a section of the bowel folds into itself like a telescope. The bowel may become blocked as a result. Prednisone may be prescribed by your doctor, or the problem may need to be corrected with surgery.

Diabetes Insipidus

Diabetes insipidus (DI) is a rare disease that occurs when the body’s precise system of regulating the kidneys’ handling of fluids is disrupted, causing frequent urination.

The body has a complex system for balancing the volume and composition of body fluids. The kidneys remove extra body fluids from the bloodstream. These fluids are stored in the bladder as urine. If the fluid regulation system is working properly, the kidneys make less urine to conserve fluid when water intake is decreased or water is lost, for example, through sweating or diarrhea.

With DI, the large volume of urine is diluted, mostly water. To make up for lost water, a person with DI may feel the need to drink large amounts and is likely to urinate frequently, even at night, which can disrupt sleep and, on occasion, cause bedwetting. Because of the excretion of abnormally large volumes of dilute urine, people with DI may quickly become dehydrated if they do not drink enough water. Children with DI may be irritable or listless and may have fever, vomiting, or diarrhea.

Diabetes insipidus should not be confused with diabetes mellitus (DM), which results from insulin deficiency or resistance leading to high blood glucose, also called blood sugar. DI and DM are unrelated, although they can have similar signs and symptoms, like excessive thirst and excessive urination. DI is a different form of illness altogether.

Milder forms of DI can be managed by drinking enough water, usually between 2 and 2.5 liters a day. DI severe enough to endanger a person’s health is rare.

Central DI results from damage to the pituitary gland, which disrupts the normal storage and release of ADH – antidiuretic hormone that directs the kidneys to reabsorb water into the bloodstream and make less urine. Damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders.

To treat the ADH deficiency that results from any kind of damage to the hypothalamus or pituitary, a synthetic hormone called desmopressin can be taken by an injection, a nasal spray, or a pill.

Nephrogenic DI results when the kidneys are unable to respond to ADH. The kidneys’ ability to respond to ADH can be impaired by drugs and by chronic disorders including polycystic kidney disease, sickle cell disease, kidney failure, partial blockage of the ureters, and inherited genetic disorders. Sometimes the cause of nephrogenic DI is never discovered.

A person with nephrogenic DI may be given hydrochlorothiazide (HCTZ) or indomethacin. HCTZ is sometimes combined with another drug called amiloride. The combination of HCTZ and amiloride is sold under the brand name Moduretic.

Dipsogenic DI is caused by a defect in or damage to the thirst mechanism, which is located in the hypothalamus. This defect results in an abnormal increase in thirst and fluid intake that suppresses ADH secretion and increases urine output.

Scientists have not yet found an effective treatment for dipsogenic DI.

Gestational DI occurs only during pregnancy and results when an enzyme made by the placenta destroys ADH in the mother.

Most cases of gestational DI can be treated with desmopressin. In rare cases, however, an abnormality in the thirst mechanism causes gestational DI, and desmopressin should not be used.

Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).

LNS is an X-linked recessive disease — the gene is carried by the mother and passed on to her son. However, one-third of all cases arise de novo (from new mutations) and do not have a family history. LNS is present at birth in baby boys. There are a few rare cases in the world of affected females. It affects about one in 380,000 live births.

The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to the following symptoms which appear in the first year of life:

  • Severe gout
  • Poor muscle control
  • Moderate retardation

A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include:

  • Facial grimacing
  • Involuntary writhing
  • Repetitive movements of the arms and legs similar to those seen in Huntington’s disease

Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia. Most, but not all, persons with this deficiency have severe mental and physical problems throughout life.

The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life.

Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

Kidney Stones

Kidney stones are made of salts and minerals in the urine that stick together to form small “pebbles.” They can be as small as grains of sand or as large as golf balls. They may stay in your kidneys or travel out of your body through the urinary tract.

The urinary tract is the system that makes urine and carries it out of your body. It is made up of the kidneys, the tubes that connect the kidneys to the bladder (the ureters), the bladder, and the tube that leads from the bladder out of the body (the urethra).

Kidney stones form when a change occurs in the normal balance of water, salts, minerals, and other things found in urine. The most common cause of kidney stones is not drinking enough water. Some people are more likely to get kidney stones because of a medical condition or family history.

Kidney stones may also be an inherited disease. If other people in your family have had kidney stones, you may have them too.

Kidney stones often cause no pain while they are in the kidneys. However, when a stone travels through a ureter it may cause sudden, severe pain and other symptoms. Watch for:

  • Severe pain in your side, belly, or groin
  • Blood in the urine
  • Nausea and vomiting
  • Feeling like you need to urinate often or pain when urinating
  • Loss of appetite, diarrhea, or constipation
  • Inability to find a comfortable body position

For most stones, your doctor will say you can stay at home until they pass. You may need to take pain medicine and/or other medication to help the stone pass.

If a stone is too large to pass on its own, or if it gets stuck in the urinary tract, you may need more treatment. About 1 or 2 out of every 10 kidney stones need medical attention.

The most common medical treatment is extracorporeal shock wave lithotripsy (ESWL). ESWL uses shock waves to break a kidney stone into small pieces. The bits can pass out of your body in your urine. Other times, a doctor will need to remove the stone or place a small flexible plastic tube (called a stent) in the ureter to keep it open while stones pass.

After you have had kidney stones, you are more likely to have them again. You can help prevent them by drinking enough water to keep your urine clear, about 8 to 10 glasses of water a day. You may have to eat less of certain foods. Your doctor may also give you medicine that helps prevent stones from forming.

Wilsons Disease

Wilson’s disease (WD) is a rare inherited disorder in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the kidneys, brain, and eyes.

Although copper accumulation begins at birth, symptoms usually appear between the ages of 6 and 20 years, but can begin later in life. Wilson’s disease affects approximately one out of every 30,000 people in the world.

Wilson’s Disease is an inherited condition. If one person in a family has Wilson’s Disease, a DNA test often can tell if other family members are affected, if they are carriers or if they are not affected. WD does not appear unless a person receives the same defective gene from both parents. If both parents carry an abnormal gene for Wilson’s disease there is a:

  • 25 percent chance their child will develop the disorder
  • 50 percent chance their child will receive one defective gene from one of the parents, which means the child will not show symptoms of the disorder but is a “carrier”
  • 25 percent chance their child will receive both normal genes, one from each parent, and will be unaffected

In a healthy person, the liver gets rid of copper by releasing it into bile. (Bile is a liquid produced by the liver that helps the body digest food and do other things.) The bile containing the copper passes through the digestive system and then leaves the body with other waste products when a person has a bowel movement. The liver of a person who has Wilson’s Disease does not release copper into bile as it should. Instead, the copper builds up and damages the liver.

The most characteristic symptom of WD is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist’s slit lamp.

The primary consequence for most of those with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms occur later in adulthood and most commonly include:

  • Slurred speech (dysarthria)
  • Difficulty swallowing (dysphagia)
  • Drooling
  • Tremor of the head, arms, or legs
  • Impaired muscle tone
  • Sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia)
  • Slowness of movements (bradykinesia)
  • Clumsiness (ataxia)
  • Loss of fine motor skills

A third of those with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis.

Early onset of the disease is worse than late onset in terms of prognosis. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, WD can cause severe brain damage, liver failure, and death.

WD requires lifelong treatment, generally using drugs to remove excess copper from the body and to prevent it from re-accumulating. Zinc salt, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine increase urinary excretion of copper; however, both drugs can cause serious side effects.

A low-copper diet may also be recommended, which involves avoiding:

  • Mushrooms
  • Nuts
  • Chocolate
  • Dried fruit
  • Liver
  • Shellfish

In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.

Von Hippel-Lindau Disease

Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body.

The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas.

VHL results from a mutation in the von Hippel–Lindau tumor suppressor gene.

Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include:

  • Headaches
  • Problems with balance and walking
  • Dizziness
  • Weakness of the limbs
  • Vision problems
  • High blood pressure

Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder. The prognosis for patients with VHL depends on the location and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.

Treatment for VHL varies according to the location and size of the tumor and its associated cyst. In general, the objective of treatment is to treat the growths when they are causing symptoms but while they are still small so that they do not cause permanent problems by putting pressure on the brain or spine, blocking the flow of cerebrospinal fluid in the nervous system, or impairing vision. Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation.

VACTERL or VATER Association

VACTERL or VATER association is an acronym used to describe a series of characteristics which have been found to occur together.

V stands for vertebrae, which are the bones of the spinal column.

A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body.

C denotes cardiac anomalies.

TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube).

R stands for renal or kidney anomalies.

L is often added to stand for limb anomalies (radial agenesis).

Babies who have been diagnosed as having VACTERL association usually have at least three or more of these individual anomalies.

There is a wide range of manifestation of VACTERL association so that the exact incidence within the population is not exactly known.

No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.

Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease. The most common heart defects seen with VACTERL association are:

Less common defects are truncus arteriosus and transposition of the great arteries. Babies may have a murmur at birth, however absence of a murmur does not rule out congenital heart disease. If a baby is suspected of having VACTERL association, consultation with a pediatric cardiologist is recommended.

Vertebral anomalies usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed. About 70 percent of patients with VACTERL association will have vertebral anomalies. In early life these rarely cause any difficulties, although the presence of these defects on a chest X-ray may alert the physician to other defects associated with VACTERL. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.

Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.

Esophageal atresia with tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an isolated defect. Fifteen percent to 33 percent of patients with TE fistulas will also have congenital heart disease. These babies usually have uncomplicated heart defects, like a VSD, which may not require any surgery.

Renal or kidney defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery (there are usually two) which can often be associated with kidney or urologic problems. These defects can be severe with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.

Limb defects occur in up to 70 percent of babies with VACTERL association and include absent or displaced thumbs, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects. Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.

Many babies with VACTERL are born small and have difficulty gaining weight. However, they tend to have normal development and intelligence.

If your baby is diagnosed with VACTERL Association, the important thing is to identify all of the possible associated defects and treat them accordingly. Unless there are several very severe defects, babies with VACTERL association do well and can lead normal productive lives.

Fabry Disease

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A.

A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system.

Fabry disease is one of several lipid storage disorders and the only X-linked lipid storage disease. Since the gene that is altered is carried on a mother’s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. Some women who carry the genetic mutation may have symptoms of the disease.

Symptoms usually begin during childhood or adolescence and include:

  • Burning sensations in the hands that gets worse with exercise and hot weather
  • Small, non-cancerous, raised reddish-purple blemishes on the skin
  • Eye manifestations, especially cloudiness of the cornea

Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved. Other symptoms include:

  • Decreased sweating
  • Fever
  • Gastrointestinal difficulties, particularly after eating

Patients with Fabry disease often survive into adulthood but are at increased risk of strokes, heart attack and heart disease, and renal failure.

Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function. The pain in the hands and feet usually responds to anticonvulsants such as phenytoin and carbamazepine. Gastrointestinal hyperactivity may be treated with metoclopramide. Some individuals may require dialysis or kidney transplantation.

Tuberous Sclerosis

Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system.

TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop.

In addition to the benign tumors that frequently occur in TSC, other common symptoms include:

  • Seizures
  • Mental retardation
  • Behavior problems
  • Skin abnormalities

Three types of brain tumors are associated with TSC:

  • Cortical tubers – which generally form on the surface of the brain
  • Subependymal nodules – which form in the walls of the ventricles (the fluid-filled cavities of the brain)
  • Giant-cell astrocytomas – a type of tumor that can block the flow of fluids within the brain

The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.

There is no cure for TSC, although treatment is available for a number of the symptoms. The generic drug everolimus is approved to treat benign tumors called subependymal giant cell astrocytomas (SEGA) in individuals with tuberous sclerosis who require treatment but are not candidates for surgery. Antiepileptic drugs may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended.