Congenital hypophosphatasia - symptoms and treatment

Congenital hypophosphatasiaCongenital hypophosphatasia



Congenital hypophosphatasia is the absence or low level of alkaline phosphatase in blood serum due to mutation of the gene encoding tissue non-specific alkaline phosphatase.


Since serum alkaline phosphatase is absent or reduced, there is no diffuse calcium deposits in the bones, which leads to low bone density and hypercalcemia. Vomiting, lack of weight gain and an increase in the epiphyses are usually noted. Patients who do not die in infancy, subsequently have bone deformities and short stature, but mental development is normal. There is no effective treatment, but alkaline phosphatase infusion and bone marrow transplantation are of limited value. NSAIDs reduce bone pain.


SUSTAINED LEATHER are relatively benign. Another autosomal recessive form causes potentially lethal cardiovascular, respiratory, and gastrointestinal complications.


Rarely, infants after a disease with febrile fever or after taking certain medications develop the acquired form of Cutis laxa. In children or adolescents, Cutis laxa usually develops after a serious illness with fever, polyserosis, or erythema multiforme. In adults, the disease may develop unnoticed. The nature of the defect underlying the disease is unknown, but fragmented elastin is found in all forms.


Congenital hypophosphatasia - symptoms and signs



In hereditary forms, the skin can be lethargic, flabby from birth, or become so later; this is noted in places where the skin is normally loose and dangling in folds, most brightly on the face. In children with this disease, a distinctive face with a long upper lip and hook-shaped nose, is characterized by a mournful facial expression. The benign autosomal recessive form is characterized by delayed development and excessive mobility of the joints. Often there are hernias and diverticula of the gastrointestinal tract. In severe forms of the disease, progressive pulmonary emphysema can accelerate the development of pulmonary heart.


Congenital hypophosphatasia - treatment



The diagnosis is clinical. Typical forms of Cutis laxa can be distinguished from Ehlers-Danlos syndrome by the absence of thin, easily traumatized skin and hypermobility of the joints. In other diseases, areas of free-hanging skin can sometimes also be noted: in the Turner syndrome, flaccid folds of the skin at the base of the neck in the girl stretch and with age resemble the membranes; with neurofibromatosis sometimes develop one-sided dangling plexiform neuromas, but their configuration and texture distinguish them from Cutis laxa.


There is no specific treatment. Plastic surgery significantly improves the appearance of patients with congenital Cutis laxa, but is less effective with acquired forms. Healing usually takes place without complications, however, lethargy and stretching of the skin may appear again. If not, the appropriate treatment is prescribed. they can also be thin, which leads to perforation of the eyeball in the eye-kyphoscoliotic type.


Moderate synovial effusion, sprains and dislocations are noted frequently. Cypuscoliosis is detected in 25% of patients, chest deformity in 20% and feet in 5%. Approximately 90% of adult patients have flat feet. Congenital hip dislocation is present in 1%.


Hernias and diverticuli of the digestive tract are often found. Rarely in some parts of the gastrointestinal tract, spontaneous bleeding or perforation develops, and spontaneous rupture of the dissecting aortic aneurysm and large arteries. In pregnant women, the stretchability of tissues can lead to premature delivery; if the fetus also has Ehlers-Danlos syndrome, the fetal membranes are fragile, which can sometimes lead to their premature rupture. The fragility and subtlety of the mother’s tissues may complicate episiotomy and cesarean section. Antenatal, intranatal or postnatal bleeding may develop. Other potentially dangerous complications include arteriovenous fistulas, mucosal ruptures and pneumothorax or pneumothorax.


Although genetic and biochemical tests are available for some types, the diagnosis is still largely based on clinical examination using large and small criteria that differ between different types.


Life expectancy, as a rule, is normal. Potentially lethal complications develop in individual types.


There is no specific treatment.Should minimize injuries. Protective clothing and the use of soft pads can be effective. If surgical treatment is performed, hemostasis should be carefully maintained.

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