The Dent’s disease It is a very rare disease of genetic/hereditary origin linked to recessive inheritance of the X chromosome and produced in the genes CLCN5 (ED type 1) or OCRL1 (ED type 2), located on chromosomes Xp11.22 and Xq25, respectively. It originates from cellular alterations that produce excessive amounts of calcium excreted through the urine (hypercalciuria); kidney stones (nephrolithiasis); high levels of calcium in the blood or urine (nephrocalcinosis); and chronic kidney failure.
Some complications affect the bones, among them vitamin D deficiency is the lack of calcium and phosphorus that makes bones soft due to the lack of vitamin D that allows the body to absorb those minerals so necessary for bone health. Dent’s disease mainly affects males and the prognosis is good in terms of life expectancy.
Causes of Dent’s disease
Recessive inheritance of the X chromosome
There are two types of Dent’s disease: Type 1 and Type 2
– Dent’s disease type 1 (ED1) is caused by mutations in the CLCN5 gene located on chromosome Xp11.22. The CLCN5 gene encodes the electrogenic Cl-/H+ exchanger, ClC-5, which belongs to the chloride ion (Cl-) family of channels/transporters.
– Dent’s disease type 2 (D2) is caused by mutations in the OCRL1 gene located on chromosome They form microfilaments.
Symptoms of Dent’s disease
Intense thirst and other disorders
Signs of Dent’s disease are usually:
– Intense thirst and tendency to dehydration.
– Elimination of large amounts of urine (polyuria)
– Stones in the kidney and urinary tract.
– Urinary calcium excretion greater than 4 mg/kg/day in a normal diet of calcium, protein and sodium.
– Tendency to present rickets and osteomalacia.
– Some delay in motor development.
– Some degree of intellectual deficit.
Diagnosis of Dent’s disease
Blood and urine tests
Reaching the diagnosis of Dent’s disease is not easy. Blood and urine tests must detect the presence of low molecular weight proteinuria, hypercalciuria, and at least one of the following signs: nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, or renal failure. A case of Dent’s disease should be referred to a nephrology specialist. The diagnosis is confirmed by molecular genetics.
Dent’s disease treatment and medication
Treatment of symptoms
There is no specific treatment for Dent’s disease; treatment focuses on alleviating symptoms such as hypercalciuria with thiazide diuretics, which have important side effects, and preventing stones in the kidney and urinary tract. Hypercalciuria can also be treated long-term by following a diet rich in citrates (citric acid salts).
Prevention of Dent’s disease
There is no
It is not possible to prevent Dent’s disease.
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