Phosphate diabetes is a disease that is transmitted due to a genetic predisposition. The main definition that explains this group of diseases is that the human body has a fairly large lack of vitamin D and, as a result, the absorption of phosphates in the proximal kidney tubules is disrupted.
This form of the disease is not a consequence of diseases associated with the thyroid gland. The etiology of diabetes phosphate indicates that the disease has inherited properties, as a result of which, it is almost impossible to avoid the appearance of this disease in the family, where it already exists.
In the overwhelming majority of cases, the disease is transmitted from father to daughters. However, the possibility of transmission of the disease from the mother is not excluded. In children, phosphate-diabetes appears as a result of a lack of vitamin D, in adults, due to the curvature of the bones and their subsequent softening.
Phosphate-diabetes is also called: vitamin D dependent rickets, hereditary rickets, hypophospholenic rickets. With this type of disease, the absorption of phosphorus and calcium is impaired, so bone tissues cannot fully form. Also, vitamin D poorly enters the body and special substances are not converted. All calcium that has not been absorbed by the body is excreted during urination.
According to the international classification of diseases (ICD 10), phosphate-diabetes can be found under No. 25.1 (Nephrogenic diabetes insipidus) and No. 25.8 (other problems caused by renal tubular dysfunction).
Phosphate-diabetes is a diagnosis made by doctors in the event that a patient’s body is impaired in the process of assimilating phosphorus and calcium, as a result of which bone tissue is formed rather poorly. There are also problems with the amount of vitamin D, which is involved in the process of converting it into substances that resemble a hormone.
The main difference between this disease is that there is a decrease in the sensitivity of some tissues to vitamin D and calcium is simply excreted from the body. The consequences of the course of the disease may be similar to those that appear during the illness of rickets.
Pathogenesis of the disease
The disease occurs as a result of transmission in a dominant pattern, which depends on gender. With the disease, enzymatic processes are disrupted, which convert vitamin D into active substances.
Phosphate-diabetes develops due to a primary defect in the renal tubules, which are involved in phosphate reabsorption. If the percentage of phosphorus excretion along with urine is too high, its amount in the human blood decreases, which causes bone deformities.
The main cause of the disease is X-chromosome mutations, which disrupt the absorption of phosphates and trigger a whole range of pathological processes that impair the absorption of calcium.
Symptoms indicative of the onset of health problems that lead to the development of phosphate-diabetes are as follows:
- Type 1 diabetes treatment without insulin: can the disease be permanently cured?
- Deterioration of the general condition of the child.
- Retarded growth.
- Curvature of the lower limbs in an O-shape.
- Changes in the ankle or knees.
- Decreased muscle tone.
- Pain appears in the back area when palpating.
Clinical studies explain the main symptom of the disease in the fact that a person has problems with the development of the musculoskeletal system and deformities of the lower extremities occur. Also, people with phosphate-diabetes have low stature, abnormalities of other skeletal structures can be traced, gait changes, and pain during movement can be traced.
Symptoms of diabetes mellitus in adults and children
Doctors can make a diagnosis in the first two years of life, since the pathology develops at a very early age due to a genetic predisposition. As for intellectual development, in this case, phosphate-diabetes has no effect, however, it is still related to the mental state and manifests itself in the fact that the child understands his dissimilarity with peers, physical limitations.
Types of hypophosphatemic rickets (phosphate-diabetes)
Doctors divide this disease into 4 main types:
- Type 1 appears already at the 2nd year of a person’s life. The main symptoms: slow growth, no hypoplasia of the enamel of permanent teeth, deformities of the legs, rickets-like changes in the bones. With this type of disease, there is a decrease in phosphate reabsorption and rickets-like changes develop.
- Type 2 is autosomal dominant, which is not linked to the X chromosome. Appears in the first or second year of life. It manifests itself in the form of curvature of the lower extremities, changes in the skeleton. At the same time, the growth process does not change, a person has a fairly strong physique. There are mild symptoms of rickets.
- Type 3 manifests itself in the form of calcium absorption disorders, which lead to the fact that already at the 6th month of life the child has convulsions, hypotension, short stature, muscle weakness and rickets changes in growth.
- Type 4 occurs predominantly in females in early childhood. It manifests itself in the form of curvature of the lower extremities, dental anomalies and rickety changes to varying degrees.
Diagnostics
There are several diagnostic options that allow you to determine the type of disease, the degree of neglect and, most importantly, gives doctors the opportunity to prescribe a method of treatment.
The first way to determine phosphate diabetes is laboratory diagnostics. In this case, medicine can recognize hypophosphatemia or hyperphosphaturia in a child. The blood is also checked for the presence of parathyroid hormone, which may be elevated.
Phosphate diabetes is diagnosed if the patient has decreased sensitivity of tubular epithelial cells or increased alkaline phosphatase activity.
With the help of instrumental diagnostics to determine the disease, a study of the metaphysis takes place, which becomes wider in phosphate-diabetes. Also, the indicators may appear to be a cortical layer, significantly thickened.
As for the differential diagnosis, it allows you to prescribe a comprehensive solution to deficient rickets, de Toni-Debre-Fanconi syndrome.
The first thing that doctors examine is the kidneys, ureters. An x-ray of this organ is taken to identify abnormalities in its work. It is also necessary to take tests: blood, urine, urine sediment, the presence of inorganic phosphorus in the blood and urine.
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Treatment
Phosphate diabetes is not curable in both adults and children. The only way to help people with such a diagnosis is to carry out therapy that allows you to suspend the course of the disease and reduce various deformities of the skeleton. To accomplish this, specialists carry out orthopedic treatment methods, prescribe examples of vitamins A, E and D, phosphate therapy is prescribed and, in extreme cases, surgical treatment.
Treatment is based on the intake of phosphate in a volume of 10 mg / kg 4 times a day. It is a neutral solution or is sold as a tablet. Also, in addition to phosphate, vitamin D can also be prescribed, since phosphate has a tendency to cause hyperparathyroidism.
Type 3 diabetes mellitus
Thanks to the intake of vitamin D once a day at a dose of 0.01 μg / kg, the amount of phosphates increases, alkaline phosphatase decreases and any symptoms of rickets disappear. As a result, the growth of a person increases.
Depending on the type of disease, it has a different prognosis for a person’s life. Adults with the second type of phosphate-diabetes have practically no problems with skeletal deformities. The third and fourth types of the disease, with constant treatment with vitamin D, also make rather positive predictions for a person.
In some cases, drug treatment is ineffective, and as a result, doctors come to the conclusion that surgery is needed to help improve the patient’s condition.
Adults can coexist with phosphate diabetes by consuming calcium and phosphorus, in contrast to children, who desperately need an excessive intake of these substances. It is impossible to correct the consequences arising from the development of the disease, therefore a person has a short stature, his lower limbs may be bent. Because of rickets in women, they cannot give birth on their own, so they undergo a cesarean section.
Complications arising from the disease
Due to late treatment, patients with such a diagnosis may subsequently receive the following complications:
- Violation of the spine, as a result – posture.
- Mental or physical abnormalities in the development of the child.
- Bone or articular deformities, leading to disability.
- Pathology of the development of teeth, violation of the time of their development.
- Development of the auditory bone.
- Nephrocalcinosis, which is due to deposits of calcium salt in the kidney.
If a child has a predisposition to the development of this disease, then his examination begins almost from birth, in order to prevent complications as much as possible. To do this, check the level of calcium and phosphorus, monitor how the skeleton develops, whether the growth corresponds to the norms that should be at this age.
When the first signs of phosphate diabetes are found, the children are prescribed vitamins. If desired, parents can apply for benefits for the child in order to receive medicines for free, as well as arrange free trips to special health camps.
Clinical guidelines
Phosphate diabetes is a dangerous disease that develops as a result of a genetic predisposition, appears in childhood and can provoke terrible complications.
As for the recommendations regarding the prevention of the disease, it is possible to exclude the option of developing this ailment only by careful observation of young families, if such a problem is possible in the family and due to genetic predisposition.
Before conceiving a child, the doctor will prescribe a complete examination, after which he will be able to establish the likelihood of a healthy baby being born. You can also try to exclude the development of phosphate diabetes with timely referral to a specialist, if its signs began to appear in a child from a young age.
To prevent the development of a terrible disease in a child, it is necessary to accurately follow the recommendations of specialists and promptly contact the clinic for diagnosis and treatment. The earlier an adult pays attention to deviations in the normal development of a child, the more the likelihood of the possibility of eliminating many complications increases.