Dent’s or dent disease is a genetic tubular disorder that results from damage to structures called proximal tubules present in the kidney. The ailment occurs by the spillage of small proteins in the urine, besides increased levels of calcium in the urine resulting in excessive calcification in the kidneys, also called nephrocalcinosis. Often, it affects males more than females. The symptoms of dent's disease appear during childhood, but sometimes the disorder may remain undiagnosed until adulthood. Though very rare, sometimes dent's disease progressively starts to worsen leading to chronic kidney disorders, kidney stones, and renal failure. Primarily, dent’s disease is categorized into two subtypes- Type 1 and Type 2. While both types have similar symptoms, patients with type 2 may witness additional symptoms including minor intellectual disabilities, eye problems, and severe muscle weakness.
Also Read: Muscle Weakness: Know About the Underlying Causes And Treatment Options
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Why Does Dent’s Disease Happen?
The main cause of dent disease is genetic abnormalities. Our genes provide instructions to the body for creating proteins that aid the successful functioning of the body. When a genetic mutation occurs, protein may be absent, faulty, or inefficient. Dent disease type 1 is caused by mutations in the CLCN5 gene and type 2 is caused by mutations in the OCRL1 gene. Both are located on the X chromosome and their mutations may be genetically inherited or they can occur without any genetic history. In most cases, male children inherit the disorder from the mother who is the carrier of this disease. A male who inherits this mutation will get the disorder while the females become the carrier and do not inherit the disease. An affected male will not pass the disorder on to his sons since the male inherits the Y chromosome from the father. But the male parent can pass the mutation to the daughter.
Symptoms Of Dent’s Disease
The following signs and symptoms occur in the patient suffering from dent's disease:
- Extreme thirst leading to excessive urination
- Dehydration
- High glucose levels in urine
- Formation of renal stones
- A rise in high phosphate and high potassium levels in urine
- Hypercalciuria or excessive level of calcium in the body
- Excessive levels of amino acids in urine
- Abdominal pain
- Hematuria or the presence of blood in the urine
- Urinary acidification
- Difficulty in walking due to the progression of rickets in children
- Softening of bones in adults
Also Read: Genetic Testing: What Is It, How It Is Done And What To Expect?
Diagnosis
Diagnosis of dent’s disease is based upon the identification of symptoms, detailed patient history, and a thorough evaluation. The diagnosis of this rare X-linked recessive disorder can also be confirmed through molecular genetic testing. It is mostly based on the presence of the following three anomalies in the body:
- Low-molecular-weight proteinuria, which implies a high level of protein in your urine
- Symptoms indicating hypercalciuria that is excess calcium in the blood
- Presence of either nephrocalcinosis, kidney stones, hematuria, or renal insufficiency
Treatment and Prevention
Currently, there is no clear process to treat patients who have been diagnosed with dent’s disease. Treatment of this ailment emphasizes treating specific symptoms that are apparent. Most of the time the course of treatment focuses on the prevention of nephrolithiasis relapse besides treating hypercalciuria. Most commonly, the patients are treated with a thiazide diuretic, accompanied by other medications. This helps to lower the levels of calcium in the body. However, these medications are not advised during the early stages of dent’s disease as they may carry adverse side effects. Parents who are planning parenthood may be advised to get genetic testing. Genetic counseling may also benefit the patients who are undergoing treatment. In the cases where the patient with dent’s disease reaches end-stage renal disease or renal failures, renal replacement therapy becomes important.
Conclusion
Dent disease is a genetic kidney disorder that occurs when a genetic mutation happens in the body, causing the absence of proteins, and faulty or inefficient proteins. The symptoms are increased levels of calcium in the urine, episodes of kidney stones, and chronic kidney disease. Some patients suffering from dent’s disease may also develop bone disorders such as softening of the bones or osteomalacia in adults and rickets in children. The treatment of this disorder focuses on the prevention of nephrolithiasis and treating hypercalciuria. In cases where an individual is diagnosed with dent’s disease after renal failure, an additional mode of treatment such as hemodialysis may be required. The patient may also have to go for a kidney transplant in extreme cases.
