Medullary Cystic Kidney Disease - Signs, Symptoms, Diagnosis and Treatments

Introduction:

An autosomal dominant kidney illness known as medullary cystic kidney disease (MCKD) is characterized by tubulointerstitial sclerosis that progresses to end-stage renal disease. Since at least four different gene mutations may cause the condition and the presence of cysts is neither an early nor a typical diagnostic feature of the disease, the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed to be followed by the underlying genetic variant for a specific person. In contrast to polycystic kidney disease, medullary collecting duct cysts can cause a shrinking of the kidney. Medullary cystic kidney disease comes in two different varieties: mucin-1 kidney disease 1 (MKD1) and mucin-2 kidney disease/uromodulin kidney disease (MKD2). A third variety of the disease, familial juvenile hyperuricemic nephropathy type 2, which is caused by mutations in the renin gene (ADTKD-REN), is also present.

What Are Signs and Symptoms of Medullary Cystic Kidney Disease?

Medullary cystic kidney disease is a rare occurrence and is difficult to identify due to its indications and symptoms. Although the illness causes a gradual decline of kidney function over time, an affected person may exhibit the following indications or symptoms:

1. Polydipsia (excess thirst).

2. Enuresis (a condition where the ability to control urine is decreased).

3. Weakness.

4. Loss of appetite.

5. Pruritus.

6. A bone ache.

7. Pallor (plaeness).

8. Nausea.

9. Some patients with this illness go on to develop gout, which causes extreme pain and swelling in the big toe or another joint, including the knee. If left untreated, rather than only occasionally affecting the joints, it develops into a chronic condition.

What Are the Causes Of Medullary Cystic Kidney Disease?

1. The MUC1 and UMOD genes are found in two copies in healthy persons. Both mucin-1 and uromodulin are produced by the genes. Only specific kidney cells, including the thick ascending limb of Henle and the distal convoluted tubule, which are both components of the kidney tubule, express these proteins. The tubule is shielded by the protein coating that covers its surface. With MKD, people have one normal and one defective MUC1 gene. Individuals with uromodulin kidney disease (UKD) have one healthy and one dysfunctional UMOD gene. A misfolded protein product created by the faulty (mutated) gene accumulates inside renal tubule cells (in a part of the cell called the endoplasmic reticulum).

2. The MUC1 gene, which is found on chromosome 1, is the cause of mucin-1 kidney disease (MKD), which is brought on by a mutation. The mucin-1 protein, which is expressed on distal tubular cells of the kidney, contributes to the production of a mucus-like substance that covers the surface of many tiny tubules throughout the body. Mutations in the MUC1 gene are the primary cause of mucin-1 kidney disease (MKD).

3. Also, the disease is incredibly rare, and its prevalence is unclear. This mutation modifies the genomic sequence of the MUC1 gene, producing a new mutant protein. It is important to note that the following information is for informational purposes only and is not intended to be a substitute for professional advice. Individuals with a mutation in this gene can have a variable rate of loss of kidney function, with some persons going on dialysis in their thirties while others may not go on dialysis until later in life.

4. The disorder was formerly known as type 1 medullary cystic kidney disease. It was given this name because some persons with the condition developed cysts (small holes) in the kidneys' middle region (medulla). Since then, it has been discovered that the majority of patients with MUC1 mutations do not have these cysts, which makes them rare. As a result, this name has been dropped. Instead, researchers with expertise in this disease who are a part of the kidney dialysis initiatives and global outcomes group formalized their collaboration and developed an official name for this and related disorders.

How Is Diagnosis of Medullary Cystic Kidney Disease Done?

1. The disorder was formerly known as type 1 medullary cystic kidney disease. It was given this name because some persons with the condition developed cysts (small holes) in the kidneys' middle region (medulla). Since then, it has been discovered that the majority of patients with MUC1 mutations do not have these cysts, which makes them rare.

2. As a result, this name has been dropped. Instead, researchers with expertise in this disease who are a part of the kidney dialysis initiatives and global outcomes group formalized their collaboration and developed an official name for this and related disorders.

3. In this circumstance, a renal ultrasound typically reveals normal or small-sized kidneys (occasionally, cysts are present). A kidney biopsy can be performed to determine if the person has this disease; however, as cysts are seen in many healthy people, these cysts are not helpful in making a diagnosis. A needle is introduced into the kidney during a kidney biopsy surgery to extract a small bit of kidney tissue. After that, a microscope is used to study this tissue.

4. By examining the UMOD gene for mutations, which may be done through a blood test, MCKD can be definitively tested and diagnosed.

What Treatments Can Be Done for Medullary Cystic Kidney Disease?

There are currently no specific medicines or diets known to decrease the progression of medullary cystic kidney disease, making it difficult to treat or manage the condition. Nonetheless, the following can be done to treat the symptoms: When a difficulty with growth arises, growth hormone is utilized instead of erythropoietin to treat anemia. A kidney transplant can also be required at some stage. Lastly, consumption of foods high in phosphate and potassium must be decreased.

What Are the Complications?

1. Anemia (low iron levels in the blood).

2. Fractures as a result of the bones' deterioration.

3. Heart compression is brought on by a fluid accumulation (cardiac tamponade).

4. Modifications to sugar metabolism.

5. Congestive heart disease.

6. Renal failure.

7. Gastrointestinal and intestinal ulcers.

8. A lot of blood.

9. Blood pressure is high.

10. Infertility.

Conclusion:

A rare illness known as medullary cystic kidney disease (MCKD) causes the core of the kidneys to develop tiny cyst-like sacs filled with fluid. The renal tubules also develop scarring. The kidney’s tubules carry urine throughout the urinary system. These tubules malfunction due to the scarring. Knowing a little bit about the kidneys and what they do can help to comprehend MCKD. Two bean-shaped organs around the size of a closed fist make up the kidneys. They are situated close to the center of the back, on either side of the spine.