About cystic disease of the renal medulla

What is cystic disease of the renal medulla?

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, and dialysis or kidney transplant is required some time between the 4th and 7th decade of life; and several types of the disease are associated with elevated uric acid concentrations in blood and gout, which usually starts in the teenage years. Not all family members are affected by gout, but many are.

There has been a lot of confusion with regards to different names given to these conditions. This has created confusion for patients and doctors alike.

The term medullary cystic kidney disease is sometimes used to describe this condition. However, many, if not most, individuals with this disease do not have medullary cysts, so this name is being used less frequently. Some doctors still use this term.

The term familial juvenile hyperuricemic nephropathy is also used. "Familial" refers to the fact that the disease is inherited. "Juvenile" refers to the fact that it is first noticed frequently in childhood. "Hyperuricemic" refers to the fact that many patients have high blood uric acid levels (this causes gout). "Nephropathy" refers to the fact that this is a kidney disease.

Autosomal dominant interstitial kidney disease currently includes the following disorders. It is likely that additional forms of this disease will be indentified.

Uromodulin associated kidney disease is the most common form of this condition. It is caused by a mutation in a gene producing a protein called uromodulin. This protein is only made in the kidney. The mutation causes affected individuals to develop gout, frequently in their teenage years, and progressive kidney disease.

Autosomal dominant interstitial kidney disease due to renin mutations is caused by mutations in the gene producing a protein called renin. Affected individuals usually develop anemia in childhood. Often, their blood potassium levels are mildly elevated, and their blood uric acid levels are also elevated. These individuals also suffer from gout frequently.

Autosomal dominant interstitial kidney disease of unknown genetic cause is the term used to describe families with this disease in whom the cause is not known. This condition is sometimes called medullary cystic kidney disease type 1. These individuals usually have chronic kidney disease but do not have gout. Researchers are now trying to find the cause of this disease.

What are the symptoms for cystic disease of the renal medulla?

The symptoms of MCKD look like the symptoms of many other conditions, making it difficult to make a diagnosis. These symptoms include:

As the disease progresses, kidney failure (also known as end-stage renal disease) may result. Symptoms of kidney failure can include the following:

  • Bruising or bleeding
  • easily fatigued
  • frequent hiccups
  • headache
  • changes in skin color (yellow or brown)
  • itching of the skin
  • muscle cramping or twitching
  • nausea
  • loss of feeling in the hands or feet
  • Vomiting blood
  • bloody stools
  • weight loss
  • weakness
  • seizures
  • changes in mental state (Confusion or altered alertness)
  • coma

What are the causes for cystic disease of the renal medulla?

Both NPH and MCKD are autosomal dominant genetic conditions. This means you only need to get the gene from one parent to develop the disorder. If a parent has the gene, a child has a 50 percent chance of getting it and developing the condition.

Besides age of onset, the other major difference between NPH and MCKD is that they’re caused by different genetic defects.

While we focus on MCKD here, much of what we discuss is applicable to NPH as well.

What are the treatments for cystic disease of the renal medulla?

There is no cure for MCKD. Treatment for the condition consists of interventions that attempt to reduce symptoms and slow the progression of the disease.

In the early stages of the disease, your doctor may recommend increasing your intake of fluids. You may also be required to take a salt supplement to avoid dehydration.

As the disease progresses, kidney failure can result. When this occurs, you may be required to undergo dialysis. Dialysis is a process in which a machine removes wastes from the body that the kidneys can no longer filter out.

Although dialysis is a life-sustaining treatment, people with kidney failure may also be able to undergo a kidney transplant.

What are the risk factors for cystic disease of the renal medulla?

Cystic disease of the renal medulla is a serious condition that can cause permanent damage if not treated. Kidney disease is common in older people, but it's important to know what risk factors you may have so that you can get treatment as soon as possible.

The risk factors for the cystic disease of the renal medulla include:

  • Age - It seems like people who are older are more likely to get this disease.
  • Gender - Men seem to be more likely to get it than women.
  • Race - People of Asian descent are more likely to get it than people of other races.
  • Family history - If your family has a history of cystic disease of the renal medulla or other diseases like it, you may be at higher risk for getting them yourself too.
  • Exposure to lead - Lead can be found in paint, dirt, and water, so if your child has been exposed to lead at any point in his or her life, he or she may be at a higher risk for developing cystic disease of the renal medulla than other children who haven't been exposed to lead.
Symtpoms
High blood pressure,Nausea and vomiting,Loss of appetite,Pain in your side, back, or abdomen,Fever

Conditions
Wilson's disease,Polycystic kidney disease,Medullary sponge kidney,Diabetes insipidus

Drugs
Captopril (Capoten),Enalapril (Vasotec),Fosinopril (Monopril),Lisinopril (Prinivil, Zestril),Ramipril (Altace)

Is there a cure/medications for cystic disease of the renal medulla?

There currently is no cure for the cystic disease of the renal medulla. However, there are medications that can be taken to help prevent further complications and improve your quality of life.

If you have been diagnosed with cystic disease of the renal medulla, your doctor will likely prescribe medication to help manage your symptoms. You may be prescribed:

  • Pain relievers such as ibuprofen or acetaminophen
    •Blood pressure medications such as ACE inhibitors
    •Potassium supplements (if necessary)
    •Diuretics
    •Antibiotics like acetazolamide (Diamox), tolvaptan (Samsca) and sodium polystyrene sulfonate (Kayexalate) (to treat infection).
  • Medication and lifestyle changes to control high blood pressure and manage pain
    •Dietary changes – staying adequately hydrated and reducing salt, protein, cholesterol (fats) and caffeine. However, talk with your doctor or dietitian before making any dietary changes.
    •Avoiding contact sports – this is recommended if your kidneys are very enlarged, as a strong knock to your stomach area could cause damage.
    •Currently, everyone with MCKD will eventually need treatment for kidney failure. Treatment options for kidney failure include dialysis, kidney transplantation and supportive care.
Symtpoms
High blood pressure,Nausea and vomiting,Loss of appetite,Pain in your side, back, or abdomen,Fever

Conditions
Wilson's disease,Polycystic kidney disease,Medullary sponge kidney,Diabetes insipidus

Drugs
Captopril (Capoten),Enalapril (Vasotec),Fosinopril (Monopril),Lisinopril (Prinivil, Zestril),Ramipril (Altace)

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