Pediatric hyperphosphatasia

Introduction to children with hyperphosphatase Hyperphosphatamia is an autosomal recessive disorder that is extremely rare. Most people think that this disease is a metabolic disorder of bone tissue, which is mainly caused by excessive osteolytic and osteogenesis processes, resulting in ossification. The affected parts are common in the skull, tibia, femur, spine, etc. The characteristics of serum alkaline phosphatase are significantly increased, serum calcium and phosphorus are normal. basic knowledge The proportion of illness: 0.002% Susceptible people: young children Mode of infection: non-infectious Complications: headache, fracture

Pediatric hyperphosphataseemia etiology

(1) Causes of the disease

The disease is an autosomal recessive genetic disease, and the isoenzyme of alkaline phosphoric acid in serum is significantly increased.

(two) pathogenesis

Osteoclasts are replaced by immature new bone after bone destruction. The osteolytic and incomplete osteogenesis process occurs repeatedly, and a large number of immature new bone-like tissues accumulate, which makes the bones thicker, deformed, brittle and easy to fold.

Pediatric hyperphosphatase prevention

The disease is mostly autosomal recessive hereditary disease, and preventive measures should be carried out from pre-pregnancy to prenatal:

Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.

Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.

Pediatric hyperphosphatase complications Complications, headache, fracture

Due to pain, limb walking is difficult, lameness, skeletal deformity, prone to fracture, head circumference increase, deformation, headache.

Pediatric hyperphosphatase symptoms common symptoms gait instability bone pain alkaline phosphatase increased growth slow spine posterior limb deformity gastrointestinal symptoms

Slow growth, usually in the 2 to 3 years old, bone pain is the most common symptom, due to pain caused by walking difficulties, such as lameness or gait instability, sometimes fractures, limb skeletal deformities, such as X-shaped legs or O-shaped Legs, as well as other irregular deformities, may occur spontaneously or due to minor trauma caused by fractures, if the skull is involved, the skull becomes thicker, the head circumference is increasing, the skull is deformed, often accompanied by headache, and the lesion may invade the spine and the spine may occur. Or lateral deformity.

Temporary hyperphosphataseemia, often occurring in 2 months to 2 years of age, in addition to mild gastrointestinal symptoms, no more clinical manifestations, usually found in the physical examination screening, liver and bone isoenzymes Increased, but there are no liver and bone disorders in the clinic, usually disappeared in 4 to 6 months.

Examination of hyperphosphatase in children

Serum alkaline phosphatase was significantly elevated, serum calcium, phosphorus normal, urinary leucine, hydroxyproline excretion increased.

X-ray showed long bone subperiosteal tissue-like hyperplasia, osteoporosis of the backbone, unclear boundary between cortex and medullary cavity, scattered in decalcification zone, irregular honeycomb shape, skull thickening of X-ray, uneven density, It has a cotton velvet change.

Diagnosis and differential diagnosis of hyperphosphatase in children

Clinical manifestations of bone pain, skeletal malformation, laboratory examination of alkaline phosphatase increased, and normal calcium and phosphorus, and X-ray examination of bone changes can help diagnose.

Mainly associated with Pagets disease, Pagets disease, also known as osteoarthritis, is more common in adults, is an autosomal dominant genetic disease, often has a positive family history, clinical manifestations and biochemical tests similar to hyperphosphatase, calcium reduction The main point of identification is that Pagets disease has a special regional distribution. The incidence rate in Germany is higher than that in North America. It is rare in China. This disease refers to the fact that the phalanx is rarely affected, and sometimes it can also suffer from primary hyperparathyroidism. Same as hyperphosphataseemia.

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