HEMOCROMATOSIS NEONATAL PDF

Nicastro E, Iorio R. J Pediatr Gastroenterol Nutr. Ital J Pediatr. Zoller H, Knisely AS. Control of iron metabolism-lessons from neonatal hemochromatosis.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us.

Only comments written in English can be processed. Neonatal hemochromatosis NH is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin. Clinical signs occur as early as 48 hours after birth and are characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases.

The underlying cause of this iron storage disorder is unknown but it may be associated with an anomaly in placental iron transfer. Although the diagnosis may be suspected following measurement of transaminase activity, it can only be confirmed by demonstrating the generalized iron overload affecting the salivary glands, liver and pancreas, among other organs.

The disease is fatal and the limited efficiency of antioxydant treatment does not allow liver transplantation to be delayed, despite the fact that this operation is of high risk in neonates. A recent study described a treatment with high-dose intravenous immunoglobulin IVIG administered during gestation to women whose most recent pregnancy ended in documented NH.

This therapy appears to be effective in preventing or changing the severity of neonatal hemochromatosis and supports the hypothesis of an alloimmune mechanism for this disorder. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition Neonatal hemochromatosis NH is an iron storage disorder present at birth.

Summary Clinical description Clinical signs occur as early as 48 hours after birth and are characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases.

Etiology The underlying cause of this iron storage disorder is unknown but it may be associated with an anomaly in placental iron transfer.

Diagnostic methods Although the diagnosis may be suspected following measurement of transaminase activity, it can only be confirmed by demonstrating the generalized iron overload affecting the salivary glands, liver and pancreas, among other organs. Management and treatment The disease is fatal and the limited efficiency of antioxydant treatment does not allow liver transplantation to be delayed, despite the fact that this operation is of high risk in neonates.

Detailed information Professionals Review article English , pdf. Additional information Further information on this disease Classification s 4 Gene s 0 Clinical signs and symptoms Publications in PubMed Other website s 6.

Health care resources for this disease Expert centres 96 Diagnostic tests 1 Patient organisations 40 Orphan designation s and orphan drug s 0.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Alternative titles; symbols. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas Driscoll et al. Whitington postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection.

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Neonatal hemochromatosis

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Neonatal hemochromatosis NH is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin. Clinical signs occur as early as 48 hours after birth and are characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. The underlying cause of this iron storage disorder is unknown but it may be associated with an anomaly in placental iron transfer.

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