Skip to main content

Medullary Sponge Kidney

Overview


Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus' kidneys. In a normal kidney, urine flows through these tubules as the kidney is being formed during a fetus' growth.



What are the symptoms of medullary sponge kidney?

Many people haveno signs of the disease. Only about 10% develop symptoms. These are usually associated with urinary tract infections and kidney stones and may include:

1.Blood in your urine (hematuria).

2.Flank pain on either side of your back just under your rib cage.

3.Painful urination (dysuria).

4.Kidney stones.

5.Urinary tract infections.


Treatment

Medullary sponge kidney only requires treatment when it causes symptoms.

Doctors may recommend lifestyle changes to prevent the formation of kidney stones. These include:

1.eating a low sodium, high potassium, and low to moderate protein diet

2.drinking enough water to produce 2,000 milliliters of urine daily

3.consuming potassium citrate supplements

If a person has a UTI, they may need antibiotics to treat it.

Additionally, if a person has kidney stones, they may require treatment. If a kidney stone becomes stuck, a doctor may have to surgically remove it. This usually involves lithotripsy, a procedure that removes kidney stones with lasers or shock waves.



How does medullary sponge kidney occur?

When cysts develop, they prevent the tubules from functioning properly. Calcium builds up inside the tubules in a process called nephrocalcinosis. Other substances like phosphate and oxalate can also build up. Eventually, these substances stick together and form kidney stones.

The cysts and stones can also prevent urine from flowing through the tubules. This can lead to urinary tract infections.



How common is medullary sponge kidney?

About 1 in 5,000 people have medullary sponge kidney. In people who have kidney stones, it's much more common — between 12% and 20%.


What causes medullary sponge kidney?

Healthcare providers are not sure why some people develop this condition. It likely occurs due to a problem with kidney formation during fetal development in utero.



How is medullary sponge kidney diagnosed?

Your provider will perform a physical exam. This includes a review of your medical history, family history and symptoms.

If your provider suspects you have kidney disease, you will likely receive blood and urine tests to check for:

1.Blood in your urine.

2.Kidney function.

3.Urinary tract infection.

Your provider may also order imaging tests to look for cysts. Common imaging tests include:

1.CT scan, uses X-rays to create a 3D view of your kidneys.

2.Intravenous pyelogram, involves a series of X-rays taken after injecting dye into one of your veins. Your kidneys filter the dye from your blood into your urine. The dyed urine shows up on the X-ray and helps your provider see cysts and areas of urine blockage.

3.Ultrasound, uses sound waves to create a picture of your kidneys.



Risk factors

Researchers do not know what causes medullary sponge kidney.

It is usually sporadic, which means that it appears in someone without a family history. Researchers have not identified a specific gene that causes it.

However, some instances do run in families, and a small number of cases may occur due to a genetic variant a person carries.

People with medullary sponge kidney are more likelyTrusted Source to have hemihyperplasia, also known as hemihypertrophy, which causes one side of the body to grow larger than the other. There is also a higher prevalence of the condition among people with hemihyperplasia. At present, experts do not fully understand the reason for this association.

There are no specific risk factors for this medullary sponge kidney, and there are no known interventions to prevent it.


Outlook 

Most people with medullary sponge kidneys have few or no symptoms. When symptoms do appear, they include issues such as UTIs and kidney stones, which proper treatment can manage.

There is no cure for medullary sponge kidneys, but the disease does not affect life expectancy or quality of life in most people.

However, an estimated 10% of people with this diagnosis eventually develop kidney failure. Kidney failure is life threatening and requires either a kidney transplant or dialysis.



Is medullary sponge kidney serious?

MSK is usually a benign disorder without any symptoms, but it can lead to other problems, such as urinary tract infections and kidney stones, as a result of the urine flow being blocked. In many cases, MSK does not cause symptoms or problems, but when it does it usually happens during adulthood.



What is a major symptom of medullary sponge kidney?

The first symptoms of Medullary Sponge Kidney typically blood in the urine, stone formation or signs of a urinary infection such as excessive urination (polyuria) and/or burning and pain while urinating. In some affected individuals, calcium stones may form in the kidneys (nephrolithiasis).



What are the side effects of medullary sponge kidney?

1.burning or painful urination.

2.pain in the back, lower abdomen, or groin.

3.cloudy, dark, or bloody urine.

4.foul-smelling urine.

5.fever and chills.

6.vomiting.


How do you live with a medullary sponge kidney?

There is no specific treatment for medullary sponge kidney. Treatment centers around managing urinary tract infections and kidney stones. The main treatment for urinary tract infections is antibiotics. Treatment for kidney stones depends mainly on stone size.
























Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Legg–Calve–Perthes disease

  Legg–Calve–Perthes disease Overview Legg-Calve-Perthes (LEG-kahl-VAY-PER-tuz) disease is a childhood condition that occurs when blood supply to the ball part (femoral head) of the hip joint is temporarily interrupted and the bone begins to die. This weakened bone gradually breaks apart and can lose its round shape. The body eventually restores blood supply to the ball, and the ball heals. But if the ball is no longer round after it heals, it can cause pain and stiffness. The complete process of bone death, fracture and renewal can take several years. To keep the ball part of the joint as round as possible, doctors use a variety of treatments that keep it snug in the socket portion of the joint. The socket acts as a mold for the fragmented femoral head as it heals. Symptoms Symptoms of Perthes disease include: Limping. Pain or stiffness in the hip, groin, thigh or knee. Limited range of motion of the hip joint. Pain that worsens with activity and improves with rest. Perthes diseas...
Post a Comment
Read more

Kernicterus

  Kernicterus Overview Kernicterus is a rare condition that affects your baby’s brain when they have too much bilirubin in their blood (hyperbilirubinemia). Bilirubin is a yellow waste product that your body makes. Sometimes, your liver can’t remove enough bilirubin to keep you healthy. Too much bilirubin can cause jaundice. This is when your skin, the whites of your eyes and your gums or the area underneath your tongue (mucous membranes) appear yellow. Symptoms of kernicterus progress in stages. In addition to jaundice, symptoms usually affect newborns and include irritability, poor feeding and seizures. Complications can lead to hearing loss and permanent brain damage. If you notice changes to your newborn’s behavior or appearance, contact their healthcare provider immediately. You may hear your healthcare provider call kernicterus “bilirubin encephalopathy.” Jaundice is common in newborns. Healthcare providers will monitor newborn jaundice to decrease your baby’s risk of develop...
Post a Comment
Read more