Phosphate diabetes: symptoms, diagnosis, treatment

The diagnosis of phosphate diabetes is quite common in recent years. Its frequency is 1: 20,000 children. This hereditary pathology manifests itself already during the first two years of a child’s life. The musculoskeletal system of the child suffers and varus deformity of legs develops.

There are two major methods in treatment of the disease. Conservative therapy is aimed to support the levels of vitamin D, calcium and phosphorus. The surgery corrects leg curvature and brings normal gait back to a person. Such treatment is carried out in Ladisten Clinic using independent methodics of minimally invasive operations and treatment (straightening the shape of the legs) with help of Veklich external fixation devices.

What is phosphate diabetes?

The diagnosis of phosphate diabetes is hereditary. The disease belongs to the group of tubulopathies – that is, pathologies of the renal tubules. They do not absorb phosphoric acid salts, disrupting the whole process of calcium and phosphate metabolism.

If phosphorus is not properly absorbed, its concentration in the blood drops and the whole body suffers. In general, musculoskeletal system and lower limbs are the most affected. Bone tissue suffers from calcium deficiency, it is deformed and degrades.

Another name for the disease is hypophosphatemic vitamin D-resistant rickets. This means that the disease cannot be treated with regular doses of vitamin D (it is resistant to it), so a person needs to take vitamin A, phosphorus and calcium. And the first symptoms are very similar to rickets.

Causes of phosphate diabetes

The cause of the disease is a genetic “breakdown”. The transmission mechanism is X-linked inheritance. On the X chromosome, there is a defective gene responsible for the work of the renal tubules, and because of it, the pathology of phosphate diabetes develops.

This form was described back in 1937 and is the most common. Several other types of transmission have been identified, but they are all accompanied by the same symptoms and consequences.

A rare form of the disease is the acquired form which is caused by malignant tumors.

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Symptoms

Parents can notice the first signs of phosphate diabetes disease at an early age:

  • the child starts to walk late (at the age of one and a half years and later);
  • he or she appears to be stunted;
  • weight in this case corresponds to the height of the child.
  • waddling gait and pathology of bowed legs develop.

The disease is called “pseudorickets” due to the similarity of symptoms. For example, bones in the wrist thicken. Muscle weakness and soreness in the back and bones are added to the symptoms. In case of severe pains, the child cannot walk and immobility develops. In advanced situations, osteomalacia occurs: bone tissue is softened, which leads to frequent fractures.

How to identify it
Pathology of phosphate diabetes is diagnosed in three ways

1. Medical history taking. Parents are asked about the symptoms. How does the child develop, is he or she stunted, does he or she have difficulties with walking? All this is asked by endocrinologist and orthopedist when making a diagnosis. Visually, genu varum deformity (bowed legs) can be notices. 2. X-ray. Shows changes in bone tissue and abnormalities in the bone growth zone. 3. Laboratory diagnostics. Phosphates in the urine are increased 4-5 times, while phosphorus in the blood is reduced. At the same time, calcium in the blood is within normal range. Also genetic analysis of changes in the X chromosome is indicative in this case.

Is it possible to live with it?

Modern therapy gives favorable forecasts. In case of phosphate diabetes, the deformation disappears completely if timely treatment is taken. The process can worsen during critical periods, for example, during pregnancy and lactation, when the body needs higher doses of phosphorus and calcium.

Patients with the disease require medical observation through all their lives, even if the disease does not manifest itself. If you ignore therapy, serious consequences can occur

1. physical underdevelopment of a child, worsening of his or her psychological state; 2. fault in posture which will remain for life; 3. progression of bone and joint deformities; 4. pathology of teeth and their destruction; 5. hearing loss as a result of deformation of bones of the middle ear; 6. renal failure due to accumulation of salts; 7. deformation of pelvic bones and problems with childbirth in women. Severe varus deformity is one of the common consequences of untreated diabetes. If one won’t get rid of it, a person can end up in a wheelchair. The psychological state suffers significantly as the patient feels his or her “inferiority”. You can only live successfully on the condition that the levels of calcium and phosphorus are maintained, as well as the leg curvature is corrected.

Preventive measures
Preventive measures

Prevention of hereditary diseases is always complicated. The earlier the diagnosis of phosphate diabetes is made, the more favorable the outcome. Early supportive therapy can help forget about it forever. If one of the parents has suffered a disease in childhood, genetic analysis should be done for the child immediately after birth. In case the pathology is found, the child is examined regularly by the endocrinologist and pediatrician and receives timely treatment.

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Doctors

Founder/Chief surgeon

The founder of “Ladisten” medical center of orthopedics and traumatology Veklich Vitaliy Viktorovich is a surgeon in the field of orthopedics and traumatology for children and adults who has been practicing for more than 35 years. Author of the modified external fixation devices – the Veklich devices.

Work experience: 40 years
Head doctor, orthopedic and traumatic surgeon

Head doctor of the Ladisten Clinic Medical Center, a professional certified surgeon in the field of pediatric and adult orthopedics and traumatology.

Work experience: 15 years
Anesthesiologist

Doctor of Medicine, anesthesiologist

Work experience: 27 years
PREPARATION
Surgical treatment – what for and what are the advantages

The deformation in case of phosphate diabetes can be significant or weak. Sometimes orthopedists prescribe wearing a corset to correct the disease. It can alleviate the situation with a mild degree of pathology. In some cases, phosphate diabetes disfigures the legs making them bowed, their growth is significantly reduced and waddling gait develops, until it is impossible for a person to move independently. Then the operation is necessary with no doubt. Patients undergo osteotomy and Ilizarov device is installed. This device has long been used in orthopedics to correct deformities of the musculoskeletal system. The pathology of phosphate diabetes is one of them. At Ladisten Clinic, the procedure is carried out in a minimally invasive way, with the incisions just up to 1 cm in size. An improved Veklich device is used which has less weight, does not cause dangerous injuries and allows to make the rehabilitation process faster. With help of the operation, the patient is able to get new straight legs, the quality of life is improved and psychological discomfort disappears. The elimination of consequences in case of phosphate diabetes pathology takes only 3-4 months. And after that, the patient walks through life with healthy and straight legs!

REHABILITATION

The patient is in the clinic for 12 days, then goes through rehabilitation at home. In the future, after 3 months, another short visit to the clinic will be required to remove the devices.

Straight legs for life!
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