What are the other Names for this Condition? (Also known as/Synonyms)

• Cacchi-Ricci Disease
• MSK (Medullary Sponge Kidney)
• Pre-Calyceal Canalicular Ectasia

What is Medullary Sponge Kidney? (Definition/Background information)

• Medullary Sponge Kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance
• The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood
• Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure
• There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics

(Source: Medullary Sponge Kidney; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Medullary Sponge Kidney? (Age and Sex Distribution)

• Medullary Sponge Kidney is a rare congenital disorder. However, the onset of symptoms is noted only in older children and young adults
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Medullary Sponge Kidney? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Medullary Sponge Kidney

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Medullary Sponge Kidney? (Etiology)

The cause of Medullary Sponge Kidney is presently unknown.

What are the Signs and Symptoms of Medullary Sponge Kidney?

The signs and symptoms of Medullary Sponge Kidney may include:

• Anemia
• Cerebral cortical atrophy
• Decreased glomerular filtration rate
• Elevated serum creatinine
• Glomerulosclerosis
• Gout
• Hypertension
• Hypotension
• Impaired renal uric acid clearance
• Renal cortical atrophy
• Renal corticomedullary cysts
• Renal hypoplasia
• Renal salt wasting
• Stage 5 chronic kidney disease
• Tubular atrophy
• Tubular basement membrane disintegration
• Tubulointerstitial fibrosis
• Tubulointerstitial nephritis

(Source: Medullary Sponge Kidney; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Medullary Sponge Kidney Diagnosed?

Medullary Sponge Kidney is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Medullary Sponge Kidney?

The complications of Medullary Sponge Kidney may include:

• Kidney dysfunction
• Kidney stones

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Medullary Sponge Kidney Treated?

There is no cure for Medullary Sponge Kidney. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Medullary Sponge Kidney be Prevented?

• Currently, Medullary Sponge Kidney may not be preventable, since the cause of the disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Medullary Sponge Kidney? (Outcomes/Resolutions)

• The prognosis of Medullary Sponge Kidney is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Medullary Sponge Kidney:

Medullary Sponge Kidney is also known by the following names:

• Cacchi-Ricci Syndrome
• Cystic Dilatation of Renal Collecting Tubes

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/