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All you wanted to know about Medullary Cystic Kidney Disease

Sep 04, 2019 | 9 months ago | Read Time: 3 minutes | By iKnowledge Team
Medullary Cystic Kidney Disease

What is Medullary Cystic Kidney Disease?

Medullary Cystic Kidney Disease or MCKD is an autosomal dominant disorder that affects the kidneys. It is a rare condition in which small cysts form in the centre of the kidneys. There are two known forms of Medullary Cystic Disease, that is mucin-1 kidney disease (MKD1) and mucin-2 kidney disease or uromodulin kidney disease (MKD2). MKD1 normally affects adults between the ages of 30 and 35 years while MKD2 affects adults in the age group of 60 to 65 years.  There is also a third form of the disease that is known to occur, on account of mutations in the genetic encoding renin (ADTKD-REN). This is also known as Juvenile nephronophthisis (NPH). While MCKD and NPH are similar in terms of the kidney damage they cause as well as their symptoms, the age of onset in case of both the conditions differs. NPH, being a juvenile disease, typically occurs between the ages of 10 and 20, while MCKD occurs in adulthood.

Given that it is a rare condition, diagnosing MCKD is not easy. The disease causes the kidneys to produce urine that is not concentrated enough. This means that the urine output is watery and does not contain the right amount of waste. This eventually leads to polyuria, wherein the kidneys produce too much urine which in turn deprives the body of its natural salts, minerals, water and other vital chemicals. Over time, the patient undergoes loss of kidney function, with end-stage renal failure as the outcome.               

What are the Causes and Symptoms of Medullary Cystic Kidney Disease?

Being an autosomal dominant genetic condition, all it takes is a gene from one parent to develop the disorder. If even one parent has the gene, the child has a 50 percent chance of inheriting the gene and subsequently, the condition. NPH however, is caused by a genetic difference that is different from the one that causes MCKD.

Here are the symptoms you should watch out for, if you suspect the onset of MCKD in either yourself, or a loved one:

  • Excessive urination
  • Increased frequency of urination at night
  • Weakness
  • Low blood pressure
  • Craving for excess salt, which occurs due to the sodium loss on account of frequent urination

You should also watch out for the signs of kidney failure, which include getting tired quickly, frequent hiccups, headaches, changes in skin colour, nausea, vomiting blood, weakness, weight loss, and in some cases even slipping into a coma. Note that this is not an exhaustive but an inclusive list of possible symptoms. If you believe that you are exhibiting the symptoms of MCKD, you should undergo a series of diagnostic tests that will confirm if you are suffering from the ailment. The primary methods of investigation will include blood work and urine tests. These include tests such as a complete blood count, BUN test, blood creatinine test, uric acid test and if required, even a kidney biopsy.

How to Cure Medullary Cystic Kidney Disease?

Currently, medical research has no cure for MCKD. At best, interventions to manage the condition can be recommended. From increasing your fluid intake at the initial stage, to dialysis in case of kidney failure, your doctor can prescribe the best solution possible. A kidney transplant is the last alternative.

MCKD can also result in secondary complications such as anaemia, stomach and intestine ulcers, nerve damage and congestive heart failure, among others.

A disorder such as MCKD has a lasting impact not just on your health or that of a loved one, but also on your mental and emotional state. It affects all aspects of your life, from social to financial. Managing an illness such as this can take a toll on your financial health, since long-term care is required. Given the rising costs of healthcare, this is not always easy to manage. It becomes important to avail of health insurance to take care of the medical expenses. A term insurance plan can see you through a situation such as this.

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