title: Is exchange transfusion a possible treatment for neonatal hemochromatosis?
abstract: Neonatal hemochromatosis is a rare congenital disorder of the liver associated to a poor prognosis. Liver transplantation is often required, since no effective medical treatment has been found. Despite mounting evidence of an alloimmune etiology of this condition, exchange transfusion has never been proposed as a specific treatment for neonatal hemochromatosis. Here we describe two siblings affected by neonatal hemochromatosis. The first, a female, died at 18 days of severe coagulopathy and acute renal failure, diagnosed as affected by neonatal hemochromatosis only when the second sibling was suspected as being affected by the same disease. The second child showed a rapidly worsening coagulopathy which was treated with two exchange transfusions, followed by rapid clinical and laboratory improvement, before reaching a definite diagnosis of neonatal hemochromatosis. He is healthy at present after a follow-up of 12 months. Although exchange transfusion has never been considered as treatment for neonatal hemochromatosis, this case suggests that it could be a feasible treatment option for children affected by this disease, as for other alloimmune conditions.
authors.affiliation: Neonatal Intensive Care Unit, Ospedali Riuniti, Reggio Calabria, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Timpani
authors.forename: Francesca
authors.initials: F
authors.lastname: Foti
authors.forename: Antonino
authors.initials: A
authors.lastname: Nicolò
authors.forename: Pier Antonio
authors.initials: PA
authors.lastname: Nicotina
authors.forename: Emanuele
authors.initials: E
authors.lastname: Nicastro
authors.forename: Raffaele
authors.initials: R
authors.lastname: Iorio
mesh_terms: D058186:Acute Kidney Injury / Q000276:immunology / Q000503:physiopathology; D000975:Antioxidants / Q000008:administration & dosage; D025861:Blood Coagulation Disorders, Inherited / Q000276:immunology / Q000503:physiopathology; D005078:Exchange Transfusion, Whole Blood / Q000379:methods* / Q000592:standards; D017809:Fatal Outcome; D005260:Female; D006432:Hemochromatosis / Q000276:immunology / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D007154:Immune System Diseases / Q000276:immunology / Q000503:physiopathology / Q000628:therapy*; D007223:Infant; D007231:Infant, Newborn; D007501:Iron / Q000378:metabolism; D008099:Liver / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D008107:Liver Diseases / Q000276:immunology / Q000503:physiopathology / Q000628:therapy*; D008297:Male; D016896:Treatment Outcome
chemical_list: D000975:Antioxidants; D007501:Iron