Congenital thymic hypoplasia

Overview also known as DiGeorge syndrome, or third, four pairs of pharyngeal capsule syndrome. The disease is the embryonic stage 1 to 6 on the pharyngeal cavity development caused by congenital abnormalities immune deficiencies. In the first six embryos ~ 10 weeks, the thymus and parathyroid gland, thyroid and some facial Zhu, aortic arch and heart tuberculosis from the first one to swallow capsule six pairs of cells is formed. To the first 12 weeks of pregnancy, thymus migration to the chest, such as those previously developed abnormal embryo would raise the levy. The levy are distributed to speculate it is not due to genetic defect; Very likely to be caused abnormal embryos environment, If the mother is probably the alcohol one of the predisposing factors. Pathological examination showed thymus and thyroid absent or hypoplastic. A clinical performance. Can occur after birth ① special appearance, such as eye hypertelorism, small mandible, ear malformation, and other low. ② stubborn hypocalcemia pull Alterations of pure calcium supplement can correct it. ③ aortic arch anomalies, for example, right identity aortic that Tetralogy of Fallot, etc.. 2. After the neonatal period, recurring viruses, fungi or Pneumocystis carinii infection, or infection with chronic process. Various attenuated live vaccine, such as smallpox, tuberculosis and measles vaccine coverage is often serious reactions or even death. Patients with severe and prone to bacterial infection. Treatment most complete DiGeorge patients died in infancy; Incomplete were some spontaneous T-cell function improved, longer survival. To reduce parathyroid function and hypocalcemia should long application of vitamin D and calcium in the treatment. Serious cases of fetal thymus tissue transplantation to improve immune function; domestic use cause fetal thymus in vitro about 14 days, has treated three cases immunodeficiency patients, and achieved certain effects. Can be transplanted bone marrow or lymphoid tissue, but the role of volatility. Congenital cardiovascular malformations can be treated surgically. ① auxiliary reduction in peripheral blood lymphocytes, especially T cells decreased, the percentage increased B cell. ② cellular immune function decreased significantly. ③ humoral immune function volatile. Serum Ig is often low. ④ calcium content. ⑤ to reduce the level of parathyroid hormone.