What is Phosphate Diabetes

Phosphate diabetes is a disorder of mineral metabolism that occurs due to genetic mutations. At the same time, the absorption of phosphorus ions worsens, as a result of which the bone tissue suffers. This pathology is caused by disorders in the work of the kidneys, which occur even during the intrauterine development of the fetus. 

The bones of a patient with phosphate-diabetes undergo deformation

The disease is hereditary and in another way it is also called D-resistant rickets. The mutation occurs in the X chromosomes, resulting in damage to the kidney tubules. In addition, intestinal absorption of calcium may be impaired. Phosphate-diabetes negatively affects the functioning of the parathyroid glands, provoking their hyperactivity. The first symptoms of the disease always appear in childhood. In adults, if untreated, the pathology progresses, provoking irreversible changes in the bone tissue.

In phosphate diabetes, the absorption of minerals in the renal tubules is impaired

Pathology has 5 varieties:

  1. Dominant. In this case, a mutation of the PHEX gene occurs, as a result of which absorption in the kidneys and small intestine is impaired, since the transport of ions through the cell membrane slows down. In this case, a lot of phosphorus comes out with urine, which provokes a deficiency of this mineral in the body.
  2. Recessive. Affects mainly males, occurs with a mutation of the CLCN5 gene. In this case, there is a violation of the absorption of not only phosphorus, but also other minerals.
  3. Autosomal dominant. The FGF23 gene is affected. This form is considered relatively light compared to other varieties.
  4. Autosomal recessive. The rarest and least studied form of the disease, in which the DMP1 gene enters the affected area.
  5. Autosomal recessive with hypercalciuria. Also considered a rare species, the SLC34A3 gene mutates. In this case, a large amount of phosphorus and calcium is excreted with urine, the concentration of these elements in the plasma becomes critically low.

With phosphate diabetes, favorable conditions are created for the formation of calculi in the bladder. If you do not periodically take a urine test and do not resort to ultrasound, then there is a high probability of complications such as renal colic and obstruction (blockage) of the urinary duct with a stone.

Causes and factors of development

The main cause of the disease is the dysfunction of the renal tubules under the influence of genetic mutations. A similar pathological process can be provoked by the wrong lifestyle of a pregnant woman, her addiction to alcohol, the use of tobacco or drugs. The risk of such disorders is increased in those people whose relatives have phosphate-diabetes. At the same time, it is almost impossible to avoid the inheritance of such a disease. 

Additional provoking factors:

  • taking potent medications in the first trimester of pregnancy;
  • severe toxicosis;
  • rhesus conflict.

According to statistics, in the overwhelming majority of cases, the disease is transmitted from father to daughter, although there are types of inheritance through the maternal line.

Clinical picture

In the first 1–2 years of life, pathology may not appear in any way. The only thing that indicates a disease is the increased content of phosphorus ions in urine. When the child begins to walk, then the pathological process makes itself felt. In this case, the legs are deformed, which acquire an O-shape. The child also has muscle weakness and an inability to perform normal activities. 

Additional symptoms:

  • stunting;
  • physical weakness;
  • hair loss;
  • deterioration of the condition of the teeth;
  • severe back pain;
  • permanent fractures.

In phosphate diabetes, the bones of the legs soften and become brittle.

In the absence of treatment, the disease progresses, intense pain in the bones and joints occurs, as a result of which the child loses the ability to move fully.

Diagnostic methods

Research methods that are used to identify pathology:

  1. Analysis of urine and blood. Allows you to identify the level of phosphorus in plasma and urine. In the first case, the number of ions decreases sharply, while in the second, on the contrary, it increases. This picture allows one to suspect the presence of phosphate-diabetes.
  2. CT and MRI. Computed tomography makes it possible to diagnose abnormalities in the structure of bones. At the same time, any deformations can be seen in the picture. Magnetic resonance imaging is similar to computed tomography, except that it does not use X-rays, but nuclear magnetic resonance. Using this method, you can get more detailed images from different projections of bones and joints.
  3. X-ray. It is a classic method of research in violation of bone structures. The picture shows the curvature characteristic of this disease. This makes the bones thinner and less resistant to pressure.

MRI is one of the most expensive but informative research methods for phosphate diabetes.

Additionally, an ultrasound examination of the kidneys can be used, in which the slightest pathological changes in the structure of organs are detected. In this case, you can find sand and calculi, often accompanying this disease.

Therapeutic tactics

This pathology is incurable, but with an integrated approach to therapy, it is possible to stop the progress of the disease. For these purposes, medications, physiotherapy and dietary nutrition are used. As an auxiliary method, folk methods are used. In advanced cases, they resort to surgical intervention. It is obligatory to wear special orthopedic structures – bandages that prevent deformation and curvature of the spine. 

Phosphate diabetic brace prevents curvature of the spine

The combination of drug therapy and physiotherapy can improve the general condition of a sick person, as well as eliminate or alleviate pain.

Drug treatment

For the treatment of pathology, the following groups of medicines are used:

  1. Preparations containing calcium phosphate salts: Osteogenon, Tridin, etc. Such drugs improve the condition of bone tissue, preventing further deformation and pathological changes in the structure of the joints. Medicines are prescribed in a long course (from 6 months or more).
  2. Vitamin D: Aquadetrim, Ultra-D, etc. Preparations of this group are important for the complete assimilation of phosphorus ions and to reduce their excretion in the urine. The dose of the vitamin is gradually increased, and the course of treatment is also long.
  3. Calcium preparations: Phytin, Calcium gluconate and others. Medicines from this group strengthen bones, prevent pathological changes and improve the condition of the teeth. These medications compensate for the calcium deficiency with the active loss of this mineral. At the same time, the general well-being improves in phosphate-diabetes. The course of treatment is from several months to six months.
  4. Vitamin E: Tocopherol acetate, Aevit and others. Medicines from this group have an antioxidant effect, improve well-being and have a beneficial effect on the state of the entire body.

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