VIDEO | We get to know the rare diseases: Dental Disease

In the month with the fewest days in the year, in the month that patients with rare diseases call "their own", the month that is rare for its rare 28 days and this year, the fifth in a row, we will try to get to know you more closely about rare diseases. Let's find out the challenges and problems they face. How do they get the diagnosis? Is there any cure? How accessible and affordable are the medicines?

Dent syndrome is a rare genetic disorder of the kidneys characterized by the appearance of more protein in the urine, elevated levels of calcium in the urine, calcification in the kidneys (nephrocalcinosis), recurrent episodes of kidney stones (nephrolithiasis), and eventually, chronic kidney disease. Symptoms usually appear in childhood, but some patients may remain undiagnosed until adulthood. In some cases, the disorder gets progressively worse leading to severe kidney disease and kidney failure. There are cases where the disease remains mild to moderate into old age. The disease can be divided into two types: Type 1 characterized by the already mentioned disorders of the renal system; Type 2, which in addition to renal symptoms, is characterized by mild intellectual disability, reduced muscle tone (hypotonia) and visual disturbances. Dent syndrome Type 1 is caused by mutations in the CLCN6 gene, while Type 5 is caused by mutations in the OCRL2 gene. These mutations can be inherited from parents or can occur spontaneously with no previous family history. The disease only manifests fully in men, while some women who carry the disease gene may develop mild symptoms, such as protein in the urine, increased calcium in the urine or, less commonly, kidney stones. Dent syndrome was first described in the medical literature by Charles Enrique Dent and M. Friedman in 1, when they reported a case of two British boys with rickets associated with renal tubular damage characterized by hypercalciuria, hyperphosphaturia, proteinuria, and aminoaciduria. This combination of symptoms did not get a name until 1 years later, when nephrologist Oliver Wrong described the disease in more detail and named it in honor of his mentor.

Signs and symptoms

The specific symptoms of the disease can vary drastically from patient to patient. The small number of identified cases and the lack of large-scale clinical studies prevent doctors from forming a complete picture of the symptoms and signs of the disease and accompanying symptoms, which can appear in other disorders. Common symptoms associated with Dent syndrome Type 1 include elevated levels of low molecular weight protein and calcium in the urine (proteinuria, hypercalciuria). These may be the only symptoms in some patients. Patients may have calcium deposits, leading to calcifications in the kidneys (nephrocalcinosis). Recurrent episodes of kidney stone formation often occur. The stone can cause a variety of symptoms, including blood in the urine (hematuria), painful urination (dysuria), urge to urinate frequently, pain in the lumbar region (renal colic). There is blockage of the urinary tract and frequent infections. Eventually, the disorder can progress to chronic kidney disease with a progressive decline in their function. Symptoms associated with advanced chronic kidney disease include loss of appetite, weight loss, fatigue, and anemia. In the final stages of the disease, patients may need dialysis or a kidney transplant. Dent's syndrome Type 2, in addition to the symptoms of Type 1, can also be manifested by intellectual disorders, hypotonia, clouding of the lens (cataract).

Diagnose

The diagnosis of Dent's syndrome is based on the identification of characteristic symptoms, a detailed history, clinical assessment of the patient and various specialized tests. The disease can be suspected in people with high levels of low molecular weight protein in the urine, excess calcium in the urine, and one of the following: nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease, evidence of inheritance. Chemical analysis of urine samples may reveal elevated levels of low molecular weight protein and calcium. The diagnosis of the disease is confirmed by molecular genetic testing that identifies mutations in genes. This is sometimes not necessary, unless there are typical clinical findings (proteinuria, hypercalciuria in men).

Therapy

Treatment of Dent's syndrome is focused on specific symptoms that are evident in each patient. Adequate treatment requires the coordinated efforts of a team of specialists (pediatricians, internists, nephrologists, urologists, nutritionists). Genetic counseling can be of great benefit to patients as well as their families. There are no standardized treatment protocols. Due to the low incidence of this disease, studies have not yet been conducted on a large group of patients. Medicines known as thiazides can be used to prevent the recurrence of kidney stones and to reduce the levels of calcium in the urine. However, due to possible side effects, these drugs must be used with caution. Vitamin D for the treatment of rickets, if used, must be used with caution because excessive amounts of vitamin D can increase the level of calcium in the urine. Growth failure in children can be treated with growth hormone. If kidney function continues to decline progressively or if the disease is diagnosed late, more aggressive treatment may be required, including hemodialysis, peritoneal dialysis, and kidney transplantation. Finally, more research, in large models, is needed to determine the most effective treatment methods that will ensure long-term safety and better patient outcomes.

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