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NEONATAL HEMOCROMATOSIS

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NEONATAL HEMOCROMATOSIS

Alloimmune gestational liver disease, previously known as neonatal hemochromatosis (HN) is a rare congenital disease whose clinical manifestations deal with a severe impairment of liver function associated with hepatic and ex-trahepatic hemosiderosis. It begins in the neonatal period (30 days after birth) or during pregnancy, it is a rare disease with a high mortality rate. In the presence of neonatal hemochromatosis, an extensive differential diagnostic process must be carried out for different pathologies, as well as a preventive examination to rule out sepsis and infection by various viruses (herpes 1, 2 and 6, cytomegalovirus and parvovirus B19, among others). ). The etiopathogenesis of NH is not yet known, and although various theories have been postulated but the one that has gained greater relevance is that of the alloimmune theory, this theory is based on the existence of a maternal antibody of the IgG type that crosses the placenta. , would target the fetal liver by interfering with iron metabolism. Medical treatment was based on a chelating / antioxidant cocktail, also including liver transplantation, which was an alternative for the most affected patients or those who did not respond to the above. In addition, maternal immunoglobulin treatment is established, this being an empirical treatment with intravenous immunoglobulins from the 18th week of gestation, which are administered to pregnant women with a history of a previous child with HN. The use of intravenous immunoglobulin has been a great advance since in a study carried out by several countries including Argentina, the majority of women managed to reach the end of pregnancy without complications, newborns with adequate weight and survived, although the minority of the cases had poor results. Considering HN as an alloimmune disease not only opens new therapeutic possibilities in the affected neonate, but also allows the prevention of recurrence in future pregnancies, which constitutes a decisive advance whose impact is still difficult to measure. Alloimmune gestational liver disease, previously known as neonatal hemochromatosis (HN) is a rare congenital disease whose clinical manifestations deal with a severe impairment of liver function associated with hepatic and ex-trahepatic hemosiderosis. It begins in the neonatal period (30 days after birth) or during pregnancy, it is a rare disease with a high mortality rate. In the presence of neonatal hemochromatosis, an extensive differential diagnostic process must be carried out for different pathologies, as well as a preventive examination to rule out sepsis and infection by various viruses (herpes 1, 2 and 6, cytomegalovirus and parvovirus B19, among others). ). The etiopathogenesis of NH is not yet known, and although various theories have been postulated but the one that has gained greater relevance is that of the alloimmune theory, this theory is based on the existence of a maternal antibody of the IgG type that crosses the placenta. , would target the fetal liver by interfering with iron metabolism. Medical treatment was based on a chelating / antioxidant cocktail, also including liver transplantation, which was an alternative for the most affected patients or those who did not respond to the above. In addition, maternal immunoglobulin treatment is established, this being an empirical treatment with intravenous immunoglobulins from the 18th week of gestation, which are administered to pregnant women with a history of a previous child with HN.

The use of intravenous immunoglobulin has been a great advance since in a study carried out by several countries including Argentina, the majority of women managed to reach the end of pregnancy without complications, newborns with adequate weight and survived, although the minority of the cases had poor results. Considering HN as an alloimmune disease not only opens new therapeutic possibilities in the affected neonate, but also allows the prevention of recurrence in future pregnancies, which constitutes a decisive advance whose impact is still difficult to measure.

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