The kidneys filter the body's fluids and waste products. They also reabsorb nutrients and return them to the bloodstream. As MCKD1 advances, the kidneys become less capable of functioning, eventually leading to kidney failure.
What causes Medullary Cystic kidney MCKD disease ?
Mutations in the MUC1 Gene ( provides instructions for making a protein called mucin 1) causes MCKD. This gene encodes a protein called mucin 1, which is one of numerous mucin proteins that comprise mucus. Mucus is a slick material that lubricates and protects the linings of the lungs, digestive system, reproductive system, and other organs and tissues against outside intruders.
MCKD damage causes the kidneys to produce insufficiently concentrated urine. In other words, your pee is excessively fluid and deficient in waste. As a result, you'll end up urinating far more fluid than usual (polyuria) as your body attempts to eliminate all the additional waste. When the kidneys generate an excessive amount of urine, water, salt, and other essential substances are lost.
Symptoms of Medullary cystic kidney disease:
In terms of medullary cystic kidney disease indications and symptoms, the condition is difficult to diagnose and uncommon. Loss of kidney function happens gradually in this disorder, although the following signs/symptoms may be detected in an afflicted individual:
- Pruritus
- Bone ache
- Pallor
- Nausea
- Polydipsia
- Enuresis
- Weakness
- Appetite loss
How is MCKD tested and diagnosed?If you experience MCKD symptoms, your doctor may conduct a variety of tests to confirm your diagnosis. The most significant tests for detecting MCKD will be blood and urine testing.
The BUN test
Blood urea nitrogen (BUN) testing measures the quantity of urea, a protein breakdown product that is high when the kidneys aren't working correctly.
Creatinine level blood test
To determine your creatinine level, a blood creatinine test will be performed. Creatinine is a chemical waste product created by muscles that is removed from the body by the kidneys. This is used to compare blood creatinine levels to renal creatinine clearance.
The uric acid test
A uric acid test will be performed to determine uric acid levels. Uric acid is a chemical produced by your body when certain dietary items are broken down. Uric acid exits the body through the urine. Uric acid levels are typically elevated in MCKD patients.
Biopsy
A doctor or other health expert will extract a tiny bit of kidney tissue for examination in a lab under a microscope during a kidney biopsy. This can assist in ruling out other potential reasons of your symptoms, such as infections, odd deposits, or scarring.
A biopsy may also assist your doctor in determining the stage of your kidney illness.
How is Medullary cystic kidney disease MCKD disease treated?
In terms of treatment/management for medullary cystic kidney disease, there are currently no particular medicines for this condition, nor are there specific diets known to reduce disease development.
However, symptoms can be managed in the following ways:
- Anemia is treated with erythropoietin.
- Growth hormone- is given when growth becomes a problem.
- A kidney transplant may also be required at some stage.
- Finally, potassium and phosphate-containing foods must be limited.
- Kidney failure might occur as the condition advances. If this happens, you may need to have dialysis. Dialysis is a procedure in which a machine eliminates wastes from the body that the kidneys are no longer able to filter.
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