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medullary sponge kidney

Causes

Despite not knowing the exact cause of the condition, it is believed to be related to developmental abnormalities of the kidneys during fetal growth. Mediullary sponge kidney (MSK) is a congenital disorder present at birth. A specific genetic mutation has not been definitively linked to MSK, but genetic factors may play a role.

Symptoms

Most individuals with medullary sponge kidney do not experience symptoms and may remain undiagnosed. When symptoms do occur, they can include:

  • Blood in the urine, either visible (gross hematuria) or detectable only under a microscope (microscopic hematuria).

  • Infections of the urinary tract that occur frequently (recurrent UTIs).

  • Stones in the kidney can cause pain, especially if they obstruct urine flow.

  • Infections or kidney stones can cause flank pain.

  • A painful or difficult urination is called dysuria.

Diagnosis

A medullary sponge kidney is typically diagnosed by:

  • Symptoms and any history of kidney stones or recurrent UTIs are reviewed.

  • Performing a physical exam to determine whether kidney disease is present.

  • Performing imaging studies, such as intravenous pyelograms or computed tomography scans, to visualize the kidneys and identify MSK characteristics.

  • Testing urine samples for blood, infection, or kidney stone crystals.

Treatment

Treatment for medullary sponge kidney focuses on managing symptoms and preventing complications:

  • To prevent kidney stones and UTIs, patients should drink plenty of fluids.

  • Management of pain associated with kidney stones or infections with pain relievers.

  • Prescription of antibiotics to treat or prevent recurrent UTIs.

  • The use of medication to prevent kidney stones from forming or to dissolve them.

  • To remove kidney stones, procedures such as lithotripsy (using shock waves to break up stones) or surgery may be necessary.

Prevention

Among the preventive measures for medullary sponge kidney are:

  • Detect any kidney issues early with regular check-ups and imaging tests.

  • Maintaining adequate fluid intake can help flush the kidneys and reduce the risk of stones and infections.

  • Prevent kidney stones by eating a diet low in salt and certain types of protein.

  • Symptoms of a UTI should be treated promptly to prevent complications.

  • Be cautious with medications that may affect kidney function or cause stone formation, and discuss alternatives with your doctor.

Conclusion

Medical care and lifestyle adjustments can help manage the symptoms and complications of medullary sponge kidney, a congenital disorder with no definitive cure. To maintain kidney health and overall well-being, people living with MSK must understand the causes, recognize the symptoms, get an accurate diagnosis, and follow appropriate treatment and prevention strategies.

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