Progress in treatment and outcome for children with neonatal haemochromatosis

Flynn, Diana; Mohan, Narain; McKiernan, Patrick; Beath, S. V.; Buckels, J. A. C.; Mayer, David; Kelly, Déirdre

doi:10.1136/fn.88.2.f124

Cited by 97 publications

(89 citation statements)

References 20 publications

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“…It has been observed that some infants diagnosed with NH are affected less severely, which may account for the ϳ20% who survive with medical therapy and the very few who have no liver failure. 7,17,20 It follows that there may even be some who have no clinical evidence of disease. On testing, we found twin B to have clear-cut evidence of liver disease, with high AFP and ferritin levels, therefore supporting our hypothesis.…”

Section: Discussionmentioning

confidence: 99%

“…Survival of liveborn infants with liver failure is Ͻ20% with medical therapy alone. 17,20,29 In addition, the use of the cocktail is not without risk, particularly the risk of sepsis with deferoxamine. 1 Fully 50% of newborns we have treated with this cocktail have developed bacterial sepsis.…”

Section: E882mentioning

confidence: 99%

“…An MRI was performed for clinical reasons but was not technically adequate to interpret for extrahepatic siderosis. She received treatment with antioxidants and chelation 16,17 from day of life 1, with chelation being continued for 28 days. She had a protracted clinical course, requiring fresh frozen plasma support for coagulopathy for 17 days.…”

Section: Tablementioning

confidence: 99%

“…MRI (Fig 1A) demonstrated excess iron in liver, pancreas, heart, and adrenal glands. 15 He was treated with therapy consisting of a combination of chelation and antioxidants 16,17 from day of life 1: acetylcysteine, 200 mg/kg per day, divided 3 times daily, orally for 21 doses; ␣-tocopherol polyethylene glycol succinate, 25 IU/kg per day divided twice daily orally; deferoxamine, 30 mg/kg per day intravenously infused over 8 hours for 1 week or until the serum ferritin reached Ͻ500 g/L; selenium, 3 g/kg per day intravenously by continuous infusion for the length of hospitalization; and prostaglandin E1, 0.4 g/kg per hour intravenously increasing to 0.6 g/kg per hour over 3 to 4 hours with the infusion then maintained for 10 days. Supportive therapy consisted of fresh frozen plasma infusions, cryoprecipitate when clinically indicated, and parenteral nutrition.…”

Section: Twin Setmentioning

confidence: 99%

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Disparate Clinical Presentation of Neonatal Hemochromatosis in Twins

2005

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ABSTRACT. Neonatal hemochromatosis (NH) is a rare disease of gestation that results in fetal liver injury and extrahepatic siderosis. The etiology of NH is not fully understood. However, the rate of recurrence of NH in the pregnancy after an affected one is ϳ80%. A spectrum of liver disease has been recognized, spanning from liver failure in the fetus or neonate to infants that survive with medical therapy. Here we report on 2 sets of fraternal twins, each set with a gross disparity in the severity of presentation: 1 infant with liver failure and the other nearly unaffected. These findings suggest a need to look carefully for subclinical disease in the siblings of patients with NH by using sensitive tests such as those for ferritin and ␣-fetoprotein. They also suggest that affected infants may be missed when using routine clinical testing, which would lead to the apparent rate of recurrence, understating the actual recurrence rate.

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Section: Discussionmentioning

confidence: 99%

Section: E882mentioning

confidence: 99%

Section: Tablementioning

confidence: 99%

Section: Twin Setmentioning

confidence: 99%

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Disparate Clinical Presentation of Neonatal Hemochromatosis in Twins

2005

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“…Survival rates with this treatment regimen were dismal with rates as low as 10-20%. [45][46][47] After the discovery that NH was caused by GALD, a new treatment regimen was initiated utilizing the combination of double-volume exchange transfusion to remove existing reactive antibody followed immediately by administration of high-dose intravenous immunoglobulin (IVIG) (1 g/kg) to block antibody induced complement activation. The published experience with this treatment regimen shows marked improvement in survival compared to historical controls.…”

Section: Treatmentmentioning

confidence: 99%