Kidney infection – Symptoms, treatment and prevention

Kidney infections are caused by bacteria or viruses in your kidneys. They are considered serious and should be treated right away. Learn about symptoms and prevention.

When bacteria or viruses get into your kidneys, usually through your urinary tract, they can cause a kidney infection. If you have symptoms such as pain in the sides of your lower back, fever, chills or pain while urinating (i.e., peeing), contact your doctor right away. Kidney infection can be serious if not treated with antibiotics or other medicines. 

What is a kidney infection?

A kidney infection happens when bacteria or viruses get into your kidneys. Kidney infections can affect both or just one of your kidneys. A kidney infection is a type of urinary tract infection (UTI).

What are the symptoms of a kidney infection?

Symptoms of a kidney infection include:

• Fever
• Chills
• Throwing up
• Feeling sick to your stomach
• Pain in your lower back, one or both sides or your groin
• Urinating (peeing) more often than normal
• Feeling like you have to urinate even if you just went
• Pain or burning when urinating 
• Blood or pus (thick, white or yellow liquid) in your urine 
• Urine that is cloudy or smells bad 
• Diarrhea

If you notice any of these symptoms, contact your doctor right away. If you are currently taking medicine to treat a UTI, but you are still having any of these symptoms, contact your doctor.
 

How will I know if I have a kidney infection?

To find out if you have a kidney infection, doctors may do tests such as:

• Urine tests to look for bacteria or other signs of infection, such as white blood cells, in your urine
• Blood tests
• Imaging tests to look at your kidneys, such as an X-ray, ultrasound or CT scan
• Rectal exam for men, where the doctor inserts a gloved, lubricated finger into the anus to see if the prostate gland is enlarged and blocks the flow of urine

What causes a kidney infection?

The bacteria or viruses that cause kidney infections usually come from another part of your urinary tract, such as your bladder, ureters (the tubes that connect your kidneys to your bladder) or urethra (the tube that urine passes through to leave your body) and spread to your kidneys. Less commonly, the bacteria or viruses come from an infection elsewhere in your body. 

Illustration of the urinary tract which includes the kidneys, ureters, bladder, and urethra.

Kidney infection can also happen if the flow of urine through your urinary tract is blocked. This can happen due to:

• Kidney stones
• An enlarged prostate
• A problem with the shape of your urinary tract that makes it harder for urine to pass through

A kidney infection is not contagious–you cannot catch one from another person or spread a kidney infection if you have one.

Who is more likely to get a kidney infection?

Anyone can get a kidney infection, but it is more common in some people, such as:

• Women: A woman’s urethra is shorter than a man’s. Having a shorter urethra makes it easier for bacteria to get into the urinary tract. The urethra is also closer to the anus (where your stool comes out) in women. Bacteria can spread from the anus or vagina into the urethra, and then travel up the urinary tract. Pregnant women are even more likely to have a kidney infection.
• People with diabetes
• People with a weakened immune system: This could be caused by a disease, such as diabetes or HIV, or by certain medicines called immunosuppressives. People who have had a kidney transplant or other organ transplant take immunosuppressives.
• People who have nerve or spinal cord damage that keeps them from feeling pain in and around their urinary tract: This can keep them from noticing symptoms of a bladder infection, which can lead to a kidney infection.
• People who use a catheter (a thin, flexible tube) to drain urine from their bladder
• People with vesicoureteral reflux (VUR): People with VUR have urinary tracts that allow urine to flow backwards from the bladder to the kidneys.

What is the treatment for a kidney infection?

Doctors treat most kidney infections with antibiotics (medicines that kill bacteria). Doctors will often first prescribe an antibiotic that fights the most common types of kidney infection because it is very important to treat a kidney infection right away. Then, they may change the type of antibiotic after they get the results of your blood or urine tests.

Doctors will prescribe an antibiotic medicine based on:

• What type of bacteria is causing the infection
• How severe the infection is
• If you are you are pregnant
• If you are older than 65
• If you had problems from certain antibiotics in the past, such as allergic reactions

If you have a very serious infection, you may need to stay in the hospital to get antibiotics through an IV (through a vein). You may also get medicine for pain.

If your kidney infection was caused by a problem with the shape of your urinary tract, you may need to have surgery to correct the problem and prevent future kidney infections.

Seek treatment right away

It is very important to get medical treatment for a kidney infection as soon as possible–do not wait for it to go away on its own. Kidney infections that are not treated soon enough can cause permanent kidney damage or can spread to other parts of your body and cause an even more serious infection, such as an infection in your blood (sepsis), which can be fatal.

If you have pain, talk to your doctor about taking over-the-counter pain medicines. You can also use a heating pad to help with pain. Also, be sure to drink plenty of water. 

When will I begin to feel better?

Once you start treatment, you should start to feel better in a few days. 

Can I have sex while being treated for a kidney infection?
After you have started treatment and your symptoms have gone away, it is usually safe to have sex. Remember to urinate after sex to avoid getting more bacteria in your urinary tract. 
 

 How can I prevent kidney infections?

You may be able to lower your chance of getting a kidney infection by:

• Drinking plenty of water
• Urinating as soon as you feel the need to 
• Urinating after having sex
• Wiping from front to back after going to the bathroom, if you are a woman. This helps to keep bacteria from your vagina or anus from getting into your urethra.
• Avoiding the use of deodorant sprays or douches in your genital area
• Getting treatment for constipation (trouble passing stool [poop]). Constipation is not a symptom of kidney infection but it can increase your chance of having bacteria in your urinary tract because it can make it difficult to empty your bladder fully.

Kidney infection – Illnesses & conditions

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   Preventing kidney infections
   

About kidney infections

A kidney infection (pyelonephritis) is a painful and unpleasant illness caused by bacteria travelling from your bladder into one or both of your kidneys.

It’s more serious than cystitis, a common infection of the bladder that makes urinating painful.

If treated promptly, a kidney infection doesn’t cause serious harm, but will make you feel very unwell. If a kidney infection isn’t treated, it can get worse and cause permanent kidney damage.

Symptoms of a kidney infection often come on within a few hours. You can feel feverish, shivery, sick and have a pain in your back or side.

Read more about the symptoms of a kidney infection

When to see your GP

See your GP if you have a fever and persistent tummy, lower back or genital pain, or if you notice a change to your usual pattern of urination.

Most kidney infections need prompt treatment with antibiotics to stop the infection from damaging the kidneys or spreading to the bloodstream. You may also need painkillers.

If you’re especially vulnerable to the effects of an infection – for example, if you have a pre-existing health condition or are pregnant, you may be admitted to hospital and treated with antibiotics through an intravenous drip.

After taking antibiotics, you should feel completely better after about two weeks.

In rare cases, a kidney infection can cause further problems. These include blood poisoning (sepsis) and a build-up of pus in the kidney called an abscess.

Read more about treating a kidney infection and the complications of a kidney infection

What causes a kidney infection?

A kidney infection usually happens when bacteria – often a type called E. coli – gets into the urethra (the tube which carries urine out of the body) and travels up through the bladder and into the kidneys.

Read more about the causes of a kidney infection

Who’s at risk?

Kidney infections are relatively rare. It’s estimated that one in every 830 people develops a kidney infection each year in the UK.

They can happen at any age, but are much more common in women. In fact, women are six times more likely to get a kidney infection than men. This is because a woman’s urethra is shorter, making it easier for bacteria to reach the kidneys.

Younger women are most at risk because they tend to be more sexually active, and having frequent sex increases the chances of getting a kidney infection.

Younger children are also vulnerable to developing kidney infections because they may be born with an abnormality of the urinary tract or have a condition called vesico-ureteric reflux, where there is a backflow of urine from the bladder up to the kidneys.

Can kidney infections be prevented?

You can reduce your chances of developing a kidney infection by keeping your bladder and urethra free from bacteria. This can include drinking plenty of fluids, keeping your genitals clean and treating any constipation.

Read more about preventing a kidney infection

Symptoms of kidney infections

The symptoms of a kidney infection usually develop quite quickly over a few hours or days.

Common symptoms include:

• pain and discomfort in your side, lower back or around your genitals
• high temperature (it may reach 39.5C or 103.1F)
• shivering or chills
• feeling very weak or tired
• loss of appetite
• feeling sick or being sick 
• diarrhoea

You may have other symptoms if you also have cystitis or urethritis (an infection of the urethra). These additional symptoms may include:

• pain or a burning sensation during urination
• need to urinate frequently or urgently
• feeling that you’re unable to urinate fully
• blood in your urine
• cloudy or foul smelling urine
• pain in your lower abdomen

Children

Children with a kidney infection may also have additional symptoms, such as:

• a lack of energy
• irritability
• poor feeding and/or vomiting
• not growing at the expected rate
• abdominal pain
• jaundice (yellowing of the skin and whites of the eyes)
• blood in the urine
• unpleasant smelling urine
• bedwetting

When to seek medical advice

Contact your GP if you have a high temperature, persistent pain, or if you notice a change to your usual pattern of urination. Contact your GP immediately if you think your child may have a kidney infection.

If you have blood in your urine, you should always see your GP so the cause can be investigated.

Kidney infections require prompt treatment with antibiotics to help relieve symptoms and prevent complications developing.

Your GP can carry out some simple tests to help diagnose a kidney infection.

See diagnosing kidney infections for more information

Causes of kidney infections

A kidney infection happens when bacteria infects your kidneys. The bacteria are usually a type called E. coli, which live in your bowel.

The bacteria get in through the opening of the urethra and move upwards through your urinary tract, first infecting your bladder and then your kidneys.

It’s thought the bacteria can get into your urinary tract by accidentally spreading from your anus to your urethra. This can happen if you wipe your bottom after going to the toilet and the soiled toilet paper comes into contact with your genitals. It can also happen during sex.

In rare cases, a kidney infection can develop if bacteria or fungi infect the skin and the infection spreads through your bloodstream into your kidney. However, this type of infection usually only occurs in people with weakened immune systems.

Who’s most likely to get a kidney infection?

Women and children are most at risk of developing a kidney infection, as well as other urinary tract infections (UTIs) such as cystitis.

In women, the urethra is closer to the anus than in men, making it easier for bacteria from the anus to enter the urethra accidentally. The female urethra is also much shorter than the male urethra (which runs through the penis). This makes it easier for bacteria to reach the bladder and move into the kidneys.

Other factors can also put you more at risk of developing a kidney infection, including:

• having a condition that blocks, or obstructs, your urinary tract, such as kidney stones or an enlarged prostate – children with constipation can also be at an increased risk
• being born with an abnormality in your urinary tract
• having a condition that prevents you emptying your bladder fully, such as an injury to your spinal cord – this can allow bacteria in your bladder to multiply and spread
• having a weakened immune system – for example, due to type 2 diabetes or as a side effect of chemotherapy
• having an infection of the prostate gland called prostatitis – the infection can spread from the prostate gland into the kidneys 
• having a urinary catheter (a thin, flexible tube inserted into your bladder to drain away urine)
• being female and sexually active – sexual intercourse can irritate the urethra and allow bacteria to travel into your bladder
• being a man who has anal sex – bacteria can travel up the urethra into the bladder
• being pregnant – this can cause physical changes that slow the flow of urine out of your body and make it easier for bacteria to spread to the kidneys
• having undergone female genital mutilation (FGM) – an illegal practice where a woman’s genitals are deliberately cut or changed for cultural, religious and social reasons

Diagnosing kidney infections

To work out if you have a kidney infection, your GP will ask you about your symptoms and your recent medical history.

They will usually also assess your general health by taking your temperature and measuring your blood pressure.

Urine test

A urine test can help to establish whether you have a urinary tract infection (UTI). The test involves taking a small sample of urine and checking it to see if there are any bacteria in it.

You’ll be given a container and told how to collect the urine, which you can do in the surgery or at home. If you do it at home, you’ll need to label the container, seal it in a plastic bag and store it in the fridge. Ideally, hand it in to the surgery within four hours.

A urine test can’t tell whether the infection – if you have one – is in your kidneys or another part of your urinary system, such as your bladder.

For your GP to be confident you have a kidney infection, you need to have a positive urine test plus certain symptoms, such as a fever or a pain in your side.

Hospital scans

You may be referred to hospital for further testing if:

• your symptoms fail to respond to treatment with antibiotics
• your symptoms suddenly get worse
• you have additional symptoms that aren’t usually associated with a kidney infection
• you’re at risk of complications of a kidney infection

Children with recurrent UTIs will also be referred to hospital for further testing.

In these circumstances, scans can check your urinary tract for signs of problems. This may include:

• a computer tomography (CT) scan – where a scanner takes a series of X-rays and a computer is used to assemble them into a detailed image of your urinary tract
• an ultrasound scan – which uses sound waves to build an image of the inside of your body
• an isotope scan – where a dye is injected into the bloodstream and a series of X-rays are taken

Read more about treating a kidney infection

Treating kidney infections

Most people with a kidney infection can be treated at home with a course of antibiotics, and possibly painkillers as well.

See your GP if you have a fever and persistent tummy, lower back or genital pain, or if you notice a change to your usual pattern of urination.

All children with symptoms of a urinary tract infection (UTI) or kidney infection, including cystitis, should see their GP or out-of-hours emergency service.

Medication

Antibiotics

If you’re being treated at home, you’ll usually be prescribed a course of antibiotic tablets or capsules that lasts between seven and 14 days.

For most people – apart from pregnant women – antibiotics called ciprofloxacin or Co-amoxiclav are recommended. However, other antibiotics may also be used.

Common side effects of ciprofloxacin include feeling sick and diarrhoea.

Co-amoxiclav can make the contraceptive pill and contraceptive patches less effective, so you may need to use another form of contraception during the course of treatment.

A 14-day course of an antibiotic called cefalexin is recommended for pregnant women.

Usually, you’ll start to feel better quite soon after treatment starts and you should feel completely better after about two weeks.

If your symptoms show no sign of improvement 24 hours after treatment starts, contact your GP for advice.

Painkillers

Taking a painkiller such as paracetamol should help relieve symptoms of pain and a high temperature.

However, non-steroidal anti-inflammatories (NSAIDs) such as ibuprofen aren’t usually recommended to relieve pain during a kidney infection. This is because they may increase the risk of further kidney problems.

Self-help tips

If you have a kidney infection, try not to “hover” over the toilet seat when you go to the loo, because it can result in your bladder not being fully emptied.

It’s also important to drink plenty of fluids, because this will help prevent dehydration and will help to flush out the bacteria from your kidneys. Aim to drink enough so that you’re frequently passing pale-coloured urine.

Make sure that you get plenty of rest. A kidney infection can be physically draining, even if you’re normally healthy and strong. It may take up to two weeks before you’re fit enough to return to work.

Treatment at hospital

Your GP may refer you to hospital if you have an underlying problem with your urinary tract, which makes you vulnerable to kidney infections.

It’s standard practice to further investigate all men with a kidney infection simply because the condition is much rarer in men. Only women who have had two or more kidney infections tend to be referred. Most children with a kidney infection will be treated in hospital.

Hospital treatment may also be needed if:

• you’re severely dehydrated
• you’re unable to swallow or keep down any fluids or medications
• you have additional symptoms that suggest you may have blood poisoning, such as a rapid heartbeat and losing consciousness
• you’re pregnant and you also have a high temperature
• you’re particularly frail and your general health is poor 
• your symptoms fail to improve within 24 hours of starting treatment with antibiotics
• you have a weakened immune system
• you have a foreign body inside your urinary tract, such as a kidney stone or a urinary catheter
• you have diabetes
• you’re over the age of 65
• you have an underlying condition that affects the way your kidneys work, such as polycystic kidney disease or chronic kidney disease

If you’re admitted to hospital with a kidney infection, you’ll probably be attached to a drip so you can be given fluids to help keep you hydrated. Antibiotics can also be given through the drip.

You’ll have regular blood and urine tests to monitor your health and how effectively the antibiotics are fighting off the infection.

Most people respond well to treatment. As long as there are no complications, they’re usually well enough to leave hospital within three to seven days. Treatment will usually switch to tablets or capsules after you stop receiving antibiotics through a drip.

Complications of kidney infections

Most kidney infections are treated successfully without complications, although some people may develop further problems.

Complications of a kidney infection are rare, but you’re more likely to develop them if you:

• are a child
• are over 65
• are pregnant
• have diabetes, chronic kidney disease or sickle cell anaemia
• have had a kidney transplant (particularly in the first three months after the transplant)
• have a weakened immune system
• developed the kidney infection while in hospital

Some of the main complications of kidney infections are outlined below.

Kidney abscess

A kidney abscess is a rare, but serious, complication of a kidney infection, where pus develops inside the tissue of the kidney.

You’re thought to be most at risk of developing a kidney abscess if you have diabetes.

The symptoms of a kidney abscess are similar to those of a kidney infection. The most common are:

• a high temperature of 38C (100.4F) or above
• chills
• abdominal pain
• loss of appetite
• pain when passing urine

Kidney abscesses are potentially serious because the bacteria inside the abscess can spread to other parts of your body, such as your bloodstream or lungs, and can be fatal.

Smaller abscesses can usually be treated with antibiotics through a drip. Surgery is usually required for larger abscesses. This involves draining the pus out of the abscess using a needle that’s inserted into the kidney.

Blood poisoning

Blood poisoning (also called sepsis) is another rare, but potentially fatal, complication of a kidney infection.  It happens when bacteria spreads from the kidneys into the bloodstream. Once bacteria are in your blood, the infection can spread to any part of your body, including all of the major organs.

In someone with a kidney infection, the symptoms of blood poisoning include:

• low blood pressure, which makes you feel dizzy when you stand up
• confusion or disorientation
• excessive sweating
• uncontrollable shaking or shivering
• high temperature or lower body temperature than usual (under 36C, or 96.8F)
• pale skin
• rapid heartbeat
• breathlessness

Blood poisoning is a medical emergency that usually requires admission to a hospital intensive care unit (ICU) while antibiotics are used to fight the infection.

If you’re taking certain medications for diabetes, such as metformin or angiotensin-converting enzyme (ACE) inhibitors, they may be temporarily withdrawn until you recover. This is because they can cause kidney damage during an episode of blood poisoning.

Severe infection

Another rare, but potentially fatal, complication of a kidney infection is a condition called emphysematous pyelonephritis (EPN).

EPN is a severe infection, where the tissues of the kidneys are rapidly destroyed and the bacteria causing the infection begin to release a toxic gas, which builds up inside the kidneys.

The exact cause of EPN is unclear, but almost all cases are in people with diabetes.

The usual treatment is emergency surgery to remove some, or all, of the affected kidney. It’s possible to live a full and active life with only one kidney.

Kidney failure

In very rare cases, a kidney infection can cause severe kidney damage that results in kidney failure. This is when the kidneys stop working properly.

Kidney failure is potentially fatal, but it can be treated with dialysis or a kidney transplant.

Other problems

A kidney infection can also cause other complications, including high blood pressure (hypertension) or premature labour or birth.

Preventing kidney infections

The best way to prevent a kidney infection is to keep your bladder and urethra free from bacteria.

These self-help tips explain how you can do this.

Drink plenty of liquids

Drinking plenty of liquids, particularly water, will help to wash bacteria from your bladder and urinary tract.

Drinking cranberry juice or taking cranberry extracts may also help prevent urinary tract infections (UTIs). However, you should avoid cranberry juice or extracts if you’re taking warfarin, a medicine used to prevent blood clots. Cranberry juice can make the effects of warfarin more potent, so there’s a risk of excessive bleeding.

Toilet tips

To help keep your urinary tract free from bacteria:

• go to the toilet as soon as you feel the need to urinate, rather than holding it in
• wipe from front to back after going to the toilet
• practice good hygiene by washing your genitals every day and before having sex
• empty your bladder after having sex
• if you’re a woman, avoid “hovering” over a toilet seat as this position can often leave urine behind in the bladder

Treat constipation

Constipation can increase your chances of developing a urinary tract infection (UTI), so try to treat any constipation promptly.

Recommended treatments for constipation include:

• increasing the amount of fibre in your diet to 20-30g of fibre a day
• using a mild laxative on a short-term basis
• drinking plenty of fluids

See your GP if your symptoms don’t improve after 14 days (or seven days for children with constipation).

Read more about treating constipation

Be careful with contraceptives

If you keep getting UTIs (more than three a year is considered high), avoid using spermicide-coated condoms or diaphragms. This is because spermicide can stimulate the production of bacteria. 

Stick to lubricated condoms without spermicide, because unlubricated ones can irritate the urethra and make it more vulnerable to infection.

Spinal – bulbar amyotrophy Kennedy

Spinal – bulbar amyotrophy Kennedy (named after the American neurologist W. Kennedy, who described it in 1968; syn. bulbospinal amyotrophy) is a hereditary disease that manifests itself in the 4-5th decade of life with slowly increasing weakness, weight loss and muscle fasciculations in the proximal limbs , weakness of facial muscles, dysphagia, dysarthria, atrophy and fasciculations in the tongue and perioral muscles. These manifestations are often accompanied by trembling in the limbs, gynecomastia, impotence, hypogonadism, impaired spermatogenesis, infertility, and diabetes mellitus. It is inherited in an X-linked recessive manner. Average frequency in the world: 2.5 per 100 thousand people.

Caused by a mutation in the androgen receptor. The androgen receptor gene is located on the X chromosome, so more often men suffer from the full manifestation of the disorder. Severe cases are less common among women, and female carriers tend to show milder disease if symptoms occur at all. This is a relatively rare variant of spinal amyotrophy. No more than 10 clinically verified family cases of this disease have been described in Russia [Badalyan et al., 1987]. However, the rarity of this form, to a large extent, is determined by the lack of adequate diagnostics. As a rule, the disease is treated as amyotrophic lateral sclerosis. An electromyographic examination reveals a characteristic sign of a mentalis lesion, which does not occur in amyotrophic lateral sclerosis and Kugelberg-Welander spinal amyotrophy. The second electrophysiological correlate is a polyneuropathic complex (37%), not observed in ALS and CA CV. Kennedy’s disease is characterized by an increase in estradiol levels and a decrease in testosterone levels. These hormonal disturbances do not correlate with any clinical signs and are common in both ALS and CA CV.

In all examined 6 Yakut patients, the length of the amplified fragment of one allele of the AR gene was more than 38 GAG repeats (Fig. – A). In addition, one of the sisters of patients with Kennedy’s disease was found to be heterozygous for a mutation in the AR gene (Fig. B).

Kennedy’s X-linked spinal bulbar amyotrophy was registered in 2 northern uluses (Abyisky and Verkhnekolymsky) and in Nyurbinsky ulus, where the frequency of the disease exceeds world values ​​hundreds of times. The frequency in the Verkhnekolymsky ulus is 408.7 per 100 thousand people, which is much higher than the frequency registered in the Finnish population with the founder effect (15.3 per 100 thousand people). The reason for the accumulation may be positive marriage assortativeness by nationality and low migratory activity of Yakut women (Kucher et al. , 2005; 2007). men with predominant accumulation in the northern group of uluses, where the prevalence is hundreds of times higher than world values ​​(106.6 and 408.7 per 100 thousand people). The molecular genetic cause of Kennedy’s disease in Yakuts is the expansion of (CAG)n in the AR gene.

References:

1. A rare form of spiral amyotrophy is Kennedy’s disease. // II Anniversary Scientific and Practical Conference of Neurologists of Karachay-Cherkessia. Extraordinary cases from practice “- Cherkessk, 1994. – S. 2-73.
2. Genetic counseling of patients with Kennedy’s disease using DNA analysis // Tez. scientific-pract. conference “Actual problems of prevention of non-communicable diseases”, – Moscow, 9S5.- P.47-48. L.V. Dubchak et al. with A.E. Kazakov and N.A. Malygina.
3. Endocrine disorders in late X-linked recessive Kennedy bulbospinal amyotrophy. // Sat. Proceedings of the VII All-Russian Congress of Neurologists, Novgorod, 1995.- P.343.
4. Kennedy’s bulbospinal amyotrophy. // Neurological journal. – 1996. – No. 3. – P. 28-32.
5. Late-onset X-linked recessive spinal and bulbar UECular atrophy (Kennedy’s disease). // 26th Danube yitposium, – Innsbruck, – 1993, – P.134.
6. Genetic counseling of patients with Kennedy’s lisease using DNA analisys. // 28th Annual Meeting of the European Society of Human Genetics, – London, – 1996,- P. L2. L.V. Dubchak et al. with A.E. Kazakov and N.A. Malygina.
7. DNA diagnosis of Kennedy’s disease. // 2nd ialkan Meeting on Human Genetics, – Istanbul – Turkey, -.956. – D 19. L.V. Dubchak et al. with A.E. Kazakov and N.A. Malygina.
8. Molecular diagnostics and medical-genetic prognosis of spinal and bulbar Kennedy amyotrophy in children and adolescents // Petrukhin Anton Andreevich – Medicine – VAK 14.00.09 – 1996
9. Malberg C.A., Zavadenko H.H., Pegrukhin A.A., Evgrafov O.V., Maslova O.I. “Neurophysiological studies in the family of patients with Kennedy spinal and boulevard amyotrophy: diagnosis of preclinical stages of the disease in children. ” In print in the journal “Pediatrics”.
10. A. S. Petrukhin, N. N. Zavadenko, A. A. Petrukhin, O. V. Evgrafov. “DNA Diagnosis of a Family Case of Kennedy’s Spinal and Bulvar Amyotrophy.” In print in the journal “Neuropathology and Psychiatry named after S.S. Korsakov.”

Spinobulbar amyotrophy (disease) Kennedy, AR, h.m.

Method of determination
PCR, sequencing

The conclusion of a geneticist is issued!

Test material
Whole blood (with EDTA)

Home visit available

Investigation of frequent mutations in the AR gene.

Kennedy’s spinal and bulbar amyotrophy (SBMA, OMIM313200) is characterized by a late onset (at 40-60 years), a slow increase in symptoms, involvement of the bulbar group of cranial nerves in the process, and descending spread of paralysis. The first manifestations of the disease are usually weakness and atrophy of the muscles of the proximal upper limbs, spontaneous fasciculations (twitches), limitation of the range of active movements in the arms, and a decrease in tendon reflexes with the biceps and triceps muscles of the shoulder. As the disease intensifies, bulbar disorders develop (choking, atrophy of the tongue, dysarthria, fibrillation of the tongue). Then the proximal muscles of the lower extremities are involved, auxiliary techniques appear when standing up, duck gait, pseudohypertrophy of the calf muscles and gynecomastia develop.

Type of inheritance.

X-linked recessive, i.e. it affects almost exclusively boys, while women with a damaged gene in one of the X chromosomes are carriers of the disease.

Genes responsible for the development of the disease.

The androgen receptor AR gene (ANDROGEN RECEPTOR) is located on the X chromosome in the Xq21.3-q22 region.

Mutations in this gene also lead to the development of androgen insensitivity syndrome, partial androgen insensitivity syndrome with/without breast cancer, X-linked hypospadias type 1, predisposition to prostate cancer.

Pathogenesis and clinical picture.

The pathogenesis of the disease is based on a violation of the processing of mutant forms of the androgen receptor. After hormonal activation, the adrenoreceptor should normally be translocated to the cell nucleus, while the mutant forms of the protein remain in the cytoplasm. Mutant forms of the protein that are resistant to proteolysis are neurotoxic and can cause a cytotoxic effect similar to apoptosis.

The disease manifests itself at the age of 21 to 40 years with the onset of signs of peripheral paralysis in the proximal parts of the arms and supraspinatus and infraspinatus muscles. In some cases, the first signs of the disease are pronounced fasciculations in the muscles of the shoulder girdle and face, as well as tremor of outstretched arms. As the disease progresses, the muscles of the proximal legs and pelvic girdle are involved in the pathological process. When the lesion spreads to the nuclei of the bulbar group of the cranial nerves, symptoms of bulbar paresis appear, manifested by dysphagia, dysphonia, a decrease in the pharyngeal and palatine reflexes, and fasciculations of the tongue. In some patients, endocrine disorders occur, the cause of which is a malfunction of the hypothalamus, androgen deficiency and an increase in estrogen concentration. In some cases, signs of testicular atrophy, infertility and gynecomastia are found. Patients with the presence of severe disorders of sensitivity are described. According to a number of authors, sensory disturbances are specific signs of this form of the disease, which, along with bulbar disorders, distinguish it from other variants of spinal amyotrophies with a late onset. A number of patients noted the occurrence of pseudohypertrophy of the calf muscles.

Electromyogram reveals signs of damage to the motor neurons of the spinal cord. Characteristic is a decrease in the concentration of androgens in the blood and an increase in estrogen. Some patients have a slight increase in the level of creatine phosphokinase and hypobetalipoproteinemia. Pathomorphological examination of the brain of patients reveals signs of degeneration and a decrease in the number of motor neurons in the anterior horns of the spinal cord, as well as the nuclei of cranial nerves, as well as signs of damage to sensory fibers of peripheral nerves.