Although the name of this disease has the word "diabetes", it has nothing to do with the pancreas, insulin deficiency, and blood sugar levels. This sometimes confuses people who first hear the diagnosis of phosphate diabetes.
Doctors call diabetes not only diabetes 1 and diabetes 2, but also a whole group of diseases, the causes of which are different, but the main symptoms are the same: insatiable thirst, frequent excessive urination, and changes in urine composition.
Phosphate diabetes is similar to other diseases of this group not only in symptoms but also in the fact that it is also associated with metabolic disorders.
However, unlike diabetes, this is an inherited disease, ie it is not a predisposition for it, but the disease itself is transmitted from parents to children, and it is impossible to prevent it.
Familial and non-hereditary rickets:
In addition to diabetes, phosphate diabetes combines common symptoms and the fact that it disrupts metabolism. In rickets - the fact that it leads to abnormal bone development, is due to impaired metabolism of phosphorus and calcium.
Phosphate diabetes, often referred to as "vitamin D-deficient rickets," presents a distinctive challenge in pediatric medicine, akin to a condition arising from insufficient dietary intake of vitamin D.
Conversely, its occurrence in adults is notably rare, typically marked by a condition known as osteomalacia, characterized by the weakening and curving of bones.
Variably termed vitamin D-dependent rickets, hypophosphatemic rickets, familial congenital rickets, or type 2 rockets, this spectrum of disorders underscores the complex interplay between nutrition, genetics, and skeletal health across different age groups.
What exactly happens in the body with this disease? For phosphorus and calcium to be properly absorbed and from which strong bone tissue is formed, vitamin D is needed first of all. Once it is converted into special hormone-like substances in the body with food.
Just as insulin helps cells absorb glucose from the blood, so do vitamin D derivatives allow them to absorb phosphorus and calcium. In the same way, as in diabetes mellitus, there is a disorder of insulin production or cell sensitivity to it.
in the diagnosis of phosphate, there is a disorder of the production of substances needed by the body from vitamin D or reduced tissue sensitivity to these substances. Calcium that is not absorbed by the bones remains in the blood, and phosphorus is washed out in the urine.
The effects of diabetes phosphate also resemble those that occur without treatment for rickets. As the child grows, the bones of his skeleton continue to bend, and in severe cases, he loses the ability to move independently.
Disability also threatens adults with a sporadic, that is, an inconsistent form of the disease - phosphate diabetes complicates the course of the underlying disease that caused it.
Symptoms and diagnosis
In children, the need for phosphorus and calcium is much higher than in adults, so the consequences of the disease are more severe. According to the main symptoms, phosphate diabetes coincides with rickets. Specifically, these are:
- unstable duck gait;
- the curvature of the tibia with the letter O;
- growth below normal;
- the curvature of the spine.
At an early age, phosphate diabetes is often detected after parents notice that the child is not moving much. Some children cry and behave when they are forced to walk - their bones hurt.
With rickets, the bones become brittle, and even if the curvature is not yet visible, the disease can be suspected in those children who often have unexplained incomprehensible fractures.
But there is a difference between the symptoms of a classic and a hereditary rocket.
Normal rickets occur during the first months of life, hereditary phosphate diabetes - starts in the second half of the year, and sometimes in 1.5-2 years, only after the child begins to walk.
In this case, the lower limbs (long tubular bones), the knee joints, and the ankles bend primarily.
Properly diagnosed blood tests for biochemistry and X-ray studies help. The biochemical parameters of blood and bone structure in hereditary familial disease differ from both normal and those disorders observed in classical rickets. As a rule, when phosphate is suspected to cause diabetes in a child, doctors recommend testing to both parents and immediate relatives.
Is it possible to cure familial rickets?
The principle of treatment of classic and familial hypophosphatemic rocket is the same - the intake of vitamin D. But since the familial processing of rickets is disrupted, the vitamin is needed many times more than in the first case.
At the same time, doctors must monitor the level of phosphorus and calcium in the blood and its other biochemical parameters, individually choosing the right dose.
Vitamin therapy is supplemented with phosphorus preparations (calcium glycerophosphate) and diet, and depending on age, babies have prescribed vitamin complexes, for example, Oxidvit, and food rich in phosphorus is added to their diet.
Because phosphate diabetes is very similar to type 1 rickets, and sometimes it is not possible to diagnose immediately, doctors advise parents of children under two to three years of age to undergo a complete examination from time to time.
In some cases, drug treatment is not enough, and then the bent bones are corrected by surgical methods. But does the disease itself disappear after treatment?
Just as in the case of diabetes 1 it is impossible to restore your own insulin production, it is impossible to “fix” metabolic disorders in diabetes mellitus. But for adults, there is enough calcium and phosphorus that the body still absorbs.
Therefore, after adolescence, the disease worsens only in periods of increased need for calcium and phosphorus - in women during pregnancy and lactation.
But the "uncorrected" consequences of rickets - short stature, curvature of the legs - remain alive for both women and men. Women sometimes have to have a cesarean section because of pelvic bone deformity.
What is phosphate diabetes?
Phosphate diabetes should not be confused with diabetes because these diseases have nothing to do with each other. Phosphate diabetes is an inherited disease caused by a congenital metabolic disorder in the body of vitamin D and phosphate.
In this case, hypophosphatemic rickets develop - a condition in which there are irreversible changes in cartilage and bone tissue.
It is impossible to prevent diabetes with phosphates: it is transmitted to children from parents with an X chromosome. Women transmit the mutated gene in the same way to both boys and girls; men - only to girls (since they give the Y-chromosome to boys, which is not involved in disease transmission). Phosphate diabetes is much more severe in men than in women.
Mechanism of disease development
The disease is characterized by impaired reabsorption (reverse absorption) of phosphate in the proximal tubules of the kidney, leading to a decrease in serum levels.
This phenomenon is directly related to abnormalities in the work of osteoblasts - young bone cells. As a result, the absorption of phosphate, calcium, and vitamin D in the intestines is reduced.
Symptoms of phosphate diabetes
Changes in the body with phosphate diabetes resemble manifestations with common rickets that have vitamin D:
- Stopped growth.
- Hair loss.
- Deformity of the skeleton and lower extremities: legs bent
- O shape.
- Bone and muscle pain.
- Causes of fractures.
The presence of the disease is usually detected in the second year of life, when symptoms of rickets appear, insensitive to treatment with conventional doses of vitamin D.
Also, bone growths appear in the bone, restricting freedom of movement; the limbs are formed disproportionately short. Over time, adults develop osteomalacia - a disease that occurs with poor bone mineralization.
Diagnosis of the disease
1) Laboratory examination of the blood reveals a decrease in phosphate levels with normal calcium levels, while in rickets with D deficiency, on the contrary, the amount of calcium is reduced, and phosphates are contained in normal or slightly reduced amounts.
Also, hypophosphatemic rickets are characterized by high levels of phosphate excretion in the urine. The content of parathyroid hormone in the blood serum is normal.
If there is a suspicion of the presence of the disease, but there are no clear signs, the disease can be diagnosed in the newborn by reducing the amount of phosphate in the blood serum.
2) X-ray examination reveals systemic osteoporosis and changes in bone structure.
In the diagnosis of phosphate diabetes, it should be distinguished from rickets with vitamin D deficiency.
Types of manifestations of hypophosphatemic rickets
During phosphate diabetes, there are four types of disorders associated with X chromosome inheritance:
- X-linked hypophosphatemia. The disease is manifested by growth retardation, baldness, squat growth, leg deformities, and low phosphorus in the blood with increased urinary excretion. Bone changes are visible on X-rays. The amount of calcium in the bones is increased.
- It is not associated with the X chromosome form. Growth with this type of disease does not change, but the lower limbs bend with the onset of gait. Low blood phosphate levels; normal calcium levels.
- The third type of disease is manifested by dependence on vitamin D. It is characterized by convulsions, and increased excitability. Patients are insidious and suffer from tooth abnormalities and bone deformation. Decreased levels of phosphorus and calcium are found in the blood.
- Vitamin D3 deficiency. The disease most often manifests itself in girls and is characterized by deformities of the skeleton and lower extremities, and baldness.
Phosphate treatment of diabetes
Treatment of diabetes phosphate consists of the use of phosphorus preparations, large doses of vitamin D (up to 150,000 units per day), citrate mixtures, and vitamins A, and E. During treatment, the content of phosphorus in the blood and the amount of calcium excreted in the urine are monitored.
Particular attention is paid to patients with impaired renal function, as they may have calcium deposits in the kidneys, which in combination with increased urinary calcium excretion and increased blood levels may complicate treatment.
In severe bone deformities, orthopedic treatment is prescribed.
Early diagnosis of the disease helps prevent bone deformities and normalize calcium and phosphorus metabolism. In the case of bone deformities, the help of specialists for the social adjustment of patients is needed, and their professional orientation is needed.
In families where cases of phosphate diabetes have been detected, it is necessary to conduct a medical genetic examination of future parents for early detection of hereditary pathologies.
Treatment
The basis of treatment is large doses of vitamin D, as well as calcium and phosphorus preparations.
Complete treatment of hypophosphatemic rickets should begin in the early stages of the disease. First of all, it is aimed at correcting metabolic disorders and preventing bone deformities. When prescribed, the activity of the procedure and the individual tolerance of the drugs are taken into account.
The basis of the therapeutic effect is long-term therapy with high doses of vitamin D. It is prescribed:
- with an active rocket in bone tissue;
- loss of phosphorus compounds in urine;
- increased levels of alkaline phosphatase in the blood;
- in the preparation phase for surgery to correct bone deformities.
Initial doses of vitamin D are 10,000-200,000 IU per day. Their further increase is carried out under the supervision of indicators of phosphorus and calcium metabolism in the blood. Maximum daily doses can be very high and sometimes reach 250,000-300,000 IU.
In the presence of individual intolerance to vitamin D, as well as severe hypercalciuria, the appointment of such treatment is considered inappropriate.
In addition to vitamin D, such patients are recommended to take:
- phosphorus and calcium preparations;
- citrate mixture (within 6 months to improve the absorption of these trace elements);
- growth hormone.
During the period of great activity of the process, patients are advised to rest in bed, after achieving remission - therapeutic massage, dosed physical activity, and spa treatment.
Criteria for the effectiveness of conservative therapy are:
- Common good;
- growth acceleration;
- normalization of phosphorus metabolism in the body;
- positive radiological dynamics (restoration of normal bone structure).
In the presence of pronounced bone deformities on the background of permanent clinical and laboratory remission, surgical correction is performed. The following methods can be used for this:
- osteotomy (dissection) of long tubular bones with limb axis correction;
- limb immobilization using Ilizarov distraction and compression apparatus.
Such operations should be performed only after long-term conservative therapy and thorough examination.
Phosphate treatment of diabetes
Treatment involves ingestion of phosphate 10 mg/kg 4 times daily as a neutral phosphate solution or tablet. Because phosphate can cause hyperparathyroidism.
Vitamin D is prescribed in the form of calcitriol, starting with a dose of 0.005-0.01 μg / kg orally once daily, then 0.015-0.03 μg / kg orally once daily as a maintenance dose.
There is an increase in phosphate levels and a decrease in alkaline phosphatase levels, the disappearance of rickets symptoms, and an increase in growth rate. Hypercalcemia, hypercalciuria, and nephrocalcinosis with decreased renal function may complicate treatment.
In adult patients with oncogenic rickets, there is a sharp improvement after the removal of a small cell mesenchymal tumor, which creates a humoral factor that reduces phosphate reabsorption in the proximal tubules of the kidney.
Treatment of diabetes phosphate is recommended to start with the intake of phosphorus preparations (1-2 g / day), and then continue with the use of vitamin D.
This technique allows achieving the effect by taking vitamin D in moderate doses. Its initial dose is 20000-30000 ME in 1 day. After 4-6 weeks.
it increases by 10000-15000 ME per day until the level of phosphorus in the blood normalizes, the activity of alkaline phosphatase decreases, the pain in the bones of the lower extremities disappears and the bone structure is restored.
Combinations of vitamin D with diphosphonate (xidiphon) or with Albright mixture (80 ml of mixture solution in 1 day in 5 doses) are shown. The presence of large deformities of the skeletal system serves as an indication for orthopedic treatment (limb immobilization).
Causes and varieties of phosphate diabetes
Phosphate diabetes is an inherited disease. It is always based on a mutation of a particular gene, which results in a violation of phosphorus metabolism in the body.
The first descriptions of the disease appeared in the 20th century. The patient is registered with the most common variant of hypophosphatemic rickets and the role of heredity in its occurrence has been proven.
Later, other types of phosphate diabetes were identified that also have common features and causes, type of inheritance, and course features. Below we will deal in more detail with the main.
- Hypophosphatemic rickets associated with X. This is one of the most common rickets-like diseases, its incidence is 1: 20,000 pediatric population. The cause of this pathology is thought to be a mutation in the PHEX gene that encodes the activity of the endopeptidase enzyme involved in the activation and degradation of various peptide hormones.
- In this case, there is a lack of protein, transporting phosphorus compounds in the tubules of the nephron (structural units of the kidneys) and intestines, leading to the loss of phosphorus ions in the urine and impaired absorption in the digestive tract.
- Autosomal dominant hypophosphatemic rickets. This form of the disease is less common than the previous one and has a less severe course. It is associated with a mutation in the FGF-23 gene, karyotyped on chromosome 12. This gene is a circulating factor that is synthesized by osteocytes (bone cells) to inhibit renal reabsorption (re-absorption from urine) of phosphate. As its activity in the blood increases, hypophosphatemia is observed.
- Autosomal recessive hypophosphatemic rickets. This variant of phosphate diabetes is caused by a mutation in the DMP1 gene, which is responsible for the synthesis of a specific bone protein involved in regulating the proliferation of undifferentiated osteoblasts (immature bone cells). It also increases the phosphorus loss in the urine at normal concentrations of parathyroid hormone and calcitriol.
- Hereditary hypophosphatemic rickets with hypercalciuria. This is a rather rare pathology due to a mutation in the SLC34A3 gene, which encodes the activity of sodium phosphate transporters that provide transmembrane transport of substances in the renal tubules and phosphate homeostasis. It is characterized by loss of phosphorus and calcium in the urine, increased calcitriol activity, and the development of rickets.
What is phosphate diabetes?
Phosphate diabetes is a genetic disease that develops impaired reabsorption (reverse absorption) of phosphate in the renal tubules and is characterized by improper mineralization (chemical composition) of bone tissue.
Tubulopathies with rickets-like syndrome
Rickets is resistant to vitamin D (phosphate diabetes). The leading signs are changes in the skeleton similar to rickets, mainly of the lower extremities. Most often, the first signs of vitamin D-resistant rockets appear in the second year of life and are progressive.
However, the manifestation (first manifestation) of rickets resistant to vitamin D can be in the first year of life (early manifestation) and at the age of 6-8 years (late manifestation).
Changes in the skeletal system are accompanied by a delay in physical development and impairment of the child's gait ("duck gait").
Skeletal changes are progressive in nature and contribute to a delay in the development of static-motor functions of a sick child. The intelligence of children, as a rule, does not suffer.
Characteristic biochemical signs of phosphate diabetes are low serum phosphorus, and increased urinary phosphate excretion; blood calcium levels are usually normal. Alkaline phosphatase activity in the blood is increased.
The body's resistance (resistance) to vitamin D was first described in 1937. It was initially associated with impaired intestinal calcium absorption, secondary hyperparathyroidism (enhanced parathyroid function), and decreased renal phosphate reabsorption.
However, subsequently, this mechanism was not confirmed, usually, the calcium content in the patient's blood does not change, and the activity of parathyroid hormone (parathyroid hormone) increases significantly.
Phosphate reabsorption in the proximal tubules increases when the concentration of phosphate in the plasma decreases. In this case, the main regulatory role is played by parathyroid hormone (parathyroid hormone)
Its increased concentration in the blood inhibits the reabsorption of phosphate, which leads to the appearance of its excessive amount in the urine. In distant tubules, phosphate reabsorption is also suppressed by parathyroid hormone.
Vitamin D enhances the reabsorption of phosphate in the renal tubules, ie the action of this substance is contrary to the influence of parathyroid hormone and is localized in the proximal tubules.
There are currently 4 hypotheses according to which the following metabolic and functional disorders may underlie phosphate diabetes:
1) primary defect in violation of the process of absorption of calcium and phosphorus in the intestine;
2) tubulopathy with a primary violation of phosphate reabsorption in the renal tubules;
3) genetically determined combined defect of the renal tubules and intestines;
4) violation of vitamin D synthesis and insufficient production of its active forms in the liver.
As a result of genetic damage in the transport of phosphate in phosphate diabetes, the body develops a significant lack of phosphorus and calcium, which leads to the creation of rickets changes in the skeleton. This is facilitated in some cases by excessive secretion of parathyroid hormone (parathyroid hormone).
Phosphate diabetes is characterized by a pronounced variety of clinical manifestations. There are 4 variants of the disease depending on the time of manifestation (first manifestation), clinical and biochemical characteristics, and the nature of the response to vitamin D intake.
Option 1 is characterized by early disease manifestation (at 1 year of age), mild bone deformity, decreased calcium in the blood, increased urinary phosphorus excretion, increased parathyroid hormone levels in the blood, and good tolerance to vitamin D.
Development of this disease variant due to concomitant involvement in intestines and renal tubules in the pathological process and significant losses of phosphorus and calcium through the intestines and kidneys.
Option 2 is characterized by a later manifestation - in the 2nd year of life pronounced bone changes, decrease in the amount of phosphorus in the blood serum, excretion of significant amounts of phosphate in the urine, resistance (resistance) to large doses of vitamin D.
The development of this variant of the disease (reduced phosphate reabsorption rate) and phosphate loss, mainly in the urine.
Option 3 is characterized by the late manifestation of the disease - at the age of 5-6 years, the severity of skeletal abnormalities, a marked decrease in the amount of calcium in the blood serum, a significant decrease in phosphate absorption in the intestine with normal or mild excretion of these compounds in urine.
A marked resistance (resistance) to vitamin D is observed. The development of this variant of the disease is associated with predominant participation in the pathological process of the intestine and impaired absorption and assimilation of phosphorus and calcium in the intestine.
The fourth option - hypersensitivity to vitamin D and a tendency to develop a clinical and biochemical picture of hypervitaminosis D (vomiting, nausea, thirst, increased blood calcium, as well as increased urinary excretion)
In response to low doses of vitamin D. Clinically characterized by manifestation in 2. years of age and a moderate degree of bone deformation.
The contingent at the special examination for phosphate diabetes consists of children:
1) with a rickets clinic with vitamin D deficiency and lack of effect of conventional antirachitic therapy with vitamin D;
2) have one of the parents who has a rickets-like illness;
3) with deformities of the bones of the lower extremities;
4) from a family with a disorder of calcium and phosphorus metabolism.
The main criteria for the diagnosis of phosphate diabetes are:
1) clinical manifestations:
a) progressive nature of bone deformities of the lower extremities;
b) retardation in physical development;
2) type of inheritance:
b) linked to the X chromosome;
3) biochemical deviations:
a) low serum phosphorus;
b) increased excretion of phosphorus in the urine;
c) normal indicators of total calcium in the blood;
d) increased activity of alkaline phosphatase in the blood;
d) increase in the level of parathyroid hormone in the blood;
e) decreased absorption of calcium and phosphorus in the intestines.
Features of phosphate diabetes treatment. Conservative and surgical methods of treatment are used. Drug treatment should be carried out taking into account individual drug tolerance, process activity in bone tissue, and clinical and biochemical variants of the disease.
Indications for conservative therapy are the active process of bone tissue (according to X-ray data), increased activity of alkaline phosphatase in the blood, increased excretion of phosphate in the urine, and preparation of children for surgical correction.
Contraindications for conservative vitamin D therapy are individual intolerance to vitamin D, excessive urinary calcium excretion, and lack of active process in bone tissue according to laboratory and radiological studies.
The main drugs in therapy are vitamin D and its metabolites. Initial doses of vitamin D are 10,000-15,000 units per day.
The increase in initial doses of vitamin D should be carried out under the supervision of indicators of calcium and phosphorus in blood serum and urine.
The activity of alkaline phosphatase in the blood, the level of which must be carried out every 10-14 days.
An increase in blood phosphorus levels, a decrease in blood alkaline phosphatase activity, as well as the restoration of the bone structure according to X-ray data, give a reason not to increase the dose of vitamin D.
The maximum daily doses of vitamin D, depending on the variant of phosphate diabetes, are 85-100 thousand units per day, with 2. - 150-200 thousand units per day, with 3. - 200-300 thousand units per day. With option 4, naming vitamin D is contraindicated.
From the metabolites of vitamin D, a home remedy is used - oxidevitis in a daily dose of 0.25-3 micrograms. Its use requires particularly strict control of blood calcium levels (determined once every 7-10 days); in an outpatient setting, you can use the Sulkovich test for this purpose.
In the complex treatment of diabetes phosphate necessarily uses calcium preparations (calcium gluconate or calcium chloride) and phosphorus (inorganic phosphates, phytin, or calcium glycerophosphate).
To improve the absorption of calcium and phosphate in the intestines, long-term (5-6 months) oral administration of citrate mixtures (citric acid, sodium citrate, and distilled water) of 20-50 ml per day is recommended.
In the active phase of the disease, when pain in the bones and joints can be noticed, a two-week bed is recommended. During clinical and laboratory remission and observation in an outpatient setting.
It is recommended to limit physical exertion (prohibition of jumping, exercise according to a special gentle program), conduct therapeutic massage, baths with conifer salt, and spa treatment.
Indicators of the effectiveness of conservative therapy are improvement of the general condition, increase in the growth rate of children, normalization or significant improvement of phosphorus and calcium metabolism, decrease in alkaline phosphatase activity in the blood, and positive development of structural changes in bone tissue (according to X-ray study).
Complex treatment with massive doses of vitamin D should be carried out under constant medical supervision of the child's reactions (daily monitoring) and indicators of calcium and phosphorus in the blood and urine (determination of their level is carried out every 10-14 days).
The appearance of clinical signs of hypervitaminosis D (thirst, vomiting, abdominal pain, refusal to eat) or biochemical signs (increased blood calcium, increased urine output) serves as an indicator for the abolition of vitamin D or its metabolites.
A prerequisite for surgical treatment is the achievement of persistent clinical and biochemical remission for at least 2 years.
Vitamin D-dependent rickets (pseudovitamin D-deficient rickets). The first signs of vitamin D-dependent rickets are characterized by functional changes in the central nervous system, manifested by increased sweating, sleep disturbance, and shivering. Later, changes in the bones join (deformations of the lower extremities, chest, skull, thorny "crown", "bracelets").
Sometimes, in the background of these changes in children, short-term convulsions are noticed, often provoked by a rise in body temperature.
Vitamin D-dependent rickets most commonly develop in the first 3-5 months of a child’s life and is progressive despite previous rickets prophylaxis or conventional treatment for rickets. Less often, the disease can begin at the age of 3-5 years.
The disease is distinguished by several notable biochemical imbalances: diminished serum calcium levels, and blood phosphate levels that are typically within the normal range or slightly reduced.
Heightened activity of blood alkaline phosphatase, a substantial decrease in urinary calcium excretion, and an elevation in urinary amino acid excretion. These distinct disturbances reflect the intricate metabolic dysregulation inherent to the condition.
The deficiency of vitamin D and its active metabolites is accompanied by an increase in the production of parathyroid hormone, which leads to the appearance of phosphates and amino acids in the urine (phosphaturia and aminoaciduria, respectively).
Vitamin D-dependent rickets is caused by an autosomal recessive type of inheritance, but sporadic cases of the disease are often observed, apparently characterized by fresh primary mutations.
Two clinical and biochemical variants of D-dependent rockets with severe and moderate severity of metabolic disorders and bone deformities differ depending on the depth of metabolic disorders.
The primary variant is characterized by strong bone changes (lower extremity deformities, chest and forearm deformities), a marked decrease in blood calcium concentration (hypocalcemia), a high level of alkaline phosphatase activity in the blood, and profound disorders of a bone structure according to X-ray data.
According to X-ray data, the second possibility is characterized by mild or moderate bone deformities, especially of the lower extremities, a moderate decrease in serum calcium, and gross changes in bone structure.
The development of the first option is associated with a pronounced deficiency of vitamin D, and the second option is associated with a decrease in the sensitivity of the organs to this compound.
Symptoms for special examination:
1) pronounced and progressive skeletal rockets;
2) lack of therapeutic effect of preventive therapeutic doses of vitamin D;
3) convulsive syndrome of unclear origin in combination with rickets in young children. Features of metabolic disorders in this pathology include:
1) decrease in serum calcium (hypocalcemia);
2) increased activity of alkaline phosphatase in the blood;
3) increased excretion of phosphates and amino acids in the urine;
4) normal levels of vitamin D in the blood.
Efficacy of antirachitic treatment: lack of effect, despite continuous antirachitic treatment with vitamin D.
The greatest difficulties arise in distinguishing between vitamin D-dependent rockets and common rickets in young children. The main arguments in favor of vitamin D-dependent rickets are the progressive nature of bone deformities, despite traditional antirachitic treatment, low serum calcium, and normal vitamin D.
The diagnostic test used a control administration of 4,000 units of vitamin D daily for 6-8 weeks. In rickets with vitamin D deficiency, clinical and biochemical parameters are normalized, and if it depends on D, this dose is ineffective.
Since vitamin D deficiency is leading to the development of the disease, the most appropriate replacement therapy is oxidevitis, which is an analog of biologically active vitamin D.
Daily doses of oxidevitis are prescribed depending on individual tolerance and the severity of the disease. In the absence of oxidevitis, vitamin D can be used.
It is recommended to include preparations of mixtures of calcium (calcium gluconate) and phosphorus (phytin), vitamins A, C, and E, and citrate mixtures for 3-5 months.
When using vitamin D preparations, especially its active metabolites, it is necessary to systematically (1 time in 10-14 days) monitor the level of calcium and phosphorus in the blood and their excretion in the urine.
An increase in blood calcium or its excretion in the urine indicates the development of hypervitaminosis D and requires discontinuation of the drug.
Repeated administration of vitamin D or oxidevitis is possible only after 7-10 days in half (from the initial) dose, with careful clinical and laboratory supervision.
In children with vitamin D-dependent rickets, positive dynamics of calcium and phosphorus metabolism during treatment usually occur 4-6 weeks after the start of complex therapy.
It should be borne in mind that discontinuation of vitamin D preparations in children (usually after 3-6 months) may worsen, the recurrence of clinical symptoms of the disease, so it is necessary to treat patients continuously for several years.
With early and adequate therapy, especially with the use of oxide it is, clinical and biochemical signs of the disease in young children undergo reverse development.
In cases of late diagnosis, when severe and gross bone deformities of the lower extremities have already developed, which make it difficult to move, surgical treatment is indicated.
Phosphate diabetes
Phosphate diabetes is a serious disease of a hereditary nature, which is diagnosed mainly in childhood. It requires constant monitoring and treatment, as it is fraught with serious consequences and complications.
And before you think about the causes and symptoms of this disease, you must first say a few words about what it is in general.
This disease has some similarities to diabetes. But if the pancreas is affected by diabetes and the reaction of cellular interaction with insulin is disturbed, then in phosphate diabetes the kidneys take the lead.
With its development, there is a violation of the reverse absorption of phosphorus into the blood in the renal tubules, due to which its level is significantly reduced.
Due to the lack of phosphorus in the blood, bone structures are severely affected. Skeletal formation occurs irregularly, and defects appear that lead to abnormal body structure. Therefore, phosphate diabetes in children can be “seen” with the naked eye.
But only in the appearance of the child, of course, the diagnosis is not made. A thorough diagnosis is made, which allows you to recognize not only its abnormalities in the body but also the consequences that have occurred in the development of this disease.
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