Prevention of familial hypophosphatemic rickets in pediatric patients

  Familial hypophosphatasia rickets manifests as an X-linked dominant inheritance, with male patients passing the disease to girls and female patients passing it to boys and girls; occasionally some cases are autosomal recessive; some cases are also sporadic. Prevention methods refer to those of congenital diseases. The causes of congenital diseases are complex and include infections during pregnancy, advanced childbearing, inbreeding, radiation, chemicals, autoimmunity, and abnormal genetic material. Preventive measures with other birth defects diseases, in order to reduce and reverse the incidence of birth defects in newborns, prevention should be from pre-conception through to prenatal.  1, premarital medical examination in the prevention of birth defects play an active role.       The size of the role depends on the examination items and content, mainly including serological examination (such as hepatitis B virus, syphilis spirochetes, HIV), reproductive system examination (such as screening for cervical inflammation), general physical examination (such as blood pressure, electrocardiogram), as well as asking about the family history of disease, personal past medical history, etc., to do a good job of genetic disease counseling.  2. Pregnant women should avoid hazardous factors as much as possible.       Including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of prenatal care during pregnancy need to carry out systematic screening for birth defects, including regular ultrasound examinations, serological screening, etc., and chromosomal examination if necessary.  In case of abnormal results, it is necessary to clarify whether the pregnancy should be terminated; the safety of the fetus in utero; whether there are sequelae after birth, whether they are treatable, what the prognosis is, etc. To take practical measures for diagnosis and treatment.  3. The prenatal diagnostic techniques used.      (1) Amniotic fluid cell culture and related biochemical tests (amniocentesis is appropriate at 16-20 weeks of gestation); (2) maternal blood and amniotic fluid methemoglobin determination; (3) ultrasound imaging (can be applied around 4 months of gestation); (4) X-ray examination (after 5 months of gestation), which is beneficial for the diagnosis of fetal skeletal malformations; (5) sex chromatin determination of chromaffin cells (at 40-70 days of gestation), which predicts the sex of the fetus to help the diagnosis of X chain genetic diseases; ⑥application of gene chain analysis; ⑦fetal microscopy.  The above techniques are used to prevent the birth of fetuses with serious genetic diseases and congenital malformations.