Medullary cystic kidney disease (MCKD) is a rare inherited condition in which small, fluid-filled sacs called cysts form in the center of the kidneys. Two bean-shaped organs about the size of a closed fist, our kidneys are located on either side of the spine that is near the middle of your back. Each day about 200 liters of blood pass through the kidneys. Waste products and extra fluid in our body eventually become urine which is sent to the bladder and eventually removed from your body. The clean blood returns to the circulatory system. In some cases, scarring occurs in the tubules of the kidneys when the urine travels in the tubules from the kidney and through the urinary system. The damage caused by MCKD leads the kidneys to produce urine that is not concentrated enough. The urine is too watery and lacks the proper amount of waste. As a result, one ends up urinating way more fluid than normal which is also called polyuria. The body tries to get rid of all the extra waste and when the kidneys produce excessive urine, water, sodium, and other vital chemicals are lost. Over time, MCKD can lead to kidney failure.
Types And Cause Of MCKD
MCKD is a congenital disease or a genetic issue, which means it is present from birth. There are two known forms of medullary cystic kidney disease, mucin-1 kidney disease 1 (MKD1) and mucin-2 kidney or MKD2. MCKD type 2 is also referred to as familial juvenile hypouricemic nephropathy. Though MCKD is an adult-onset disease, the symptoms of both ailments remain the same. Both types of MCKD cause cysts to develop in the corticomedullary or inner part of the kidneys. In addition, MCKD- type 2 typically affects adults ages 30 to 35, and type 1 that typically affects adults ages 60 to 65. MCKD is a dominant genetic condition. This simply implies that you only need to get the gene from one parent to develop this disorder. A child has a 50 percent chance of getting it if any one of the parents has 50% of the gene.
Symptoms Of MCKD
The symptoms of MCKD are quite similar to the symptoms of several other conditions, making it hard to confirm the diagnosis. But the primary symptoms include the following:
- Excessive urination
- An increased frequency of urination mostly at night which is also called polyuria
- Blood pressure remains low most of the time
- Fatigue and weakness can be seen
- Salt cravings tend to happen as excess sodium has been lost due to increased urination
- Kidney failure which is also known as end-stage renal disease can occur
- Excessive bruising or bleeding
- Frequent hiccups
- Mild to severe headache
- Changes in skin color ranging from yellow to brown
- Itching of the skin
- Muscle cramping or twitching
- Loss of feeling in the hands or feet
- Vomiting blood
- Bloody stools
- Sudden weight loss
- Confusion or altered alertness
How Is MCKD Treated?
Like any other genetic disorder, MCKD cannot be treated completely, however, certain medications can reduce its symptoms and slow the progression of this fatal disease. During the very early stages of the MKCD, the doctor may recommend consuming more fluids besides advising a salt supplement to avoid dehydration in the long run. Ironically, as the disease progresses, in most cases, renal failure happens. In this situation, one may be required to undergo dialysis at the earliest. Dialysis is a process in which a machine is used to remove waste from the body which the kidneys are unable to filter out due to malfunction. In some cases, people with kidney failure may also be able to undergo a kidney transplant which can be a lifesaving method.