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Neonatal haemochromatosis

Rana Bitar, Rosemary Thwaites, Suzanne Davison, Sanjay Rajwal, Patricia McClean
OBJECTIVE: Acute liver failure (ALF) in early infancy is rare and challenging to recognize and manage. We aim to describe the presentation and outcome of infants with ALF according to their final aetiology to elucidate features to facilitate early recognition leading to prompt diagnosis and management. METHODS: All infants presenting within 120 days from birth with liver failure were included in a retrospective review over a 19-year period. The aetiology, clinical features, presenting investigations, and outcome were collected...
January 2017: Journal of Pediatric Gastroenterology and Nutrition
Daniel Smyk, Tassos Grammatikopoulos, Alexandros Daponte, Eirini I Rigopoulou, Dimitrios P Bogdanos
Fetomaternal alloimmune disease has traditionally been associated with haematological disease such as fetomaternal alloimmune thrombocytopaenia and Rh haemolytic anaemia, but is now known to also be organ specific. Alloimmune membranous glomerulonephritis (AMG) is one of the most well understood organ-specific alloimmune diseases. Neonatal haemochromatosis (NH) is a rare condition characterised by early liver failure in infants, with evidence suggesting that it is also alloimmune. Both AMG and NH appear to involve the passive transfer of alloantibodies to the fetus, which bind a specific alloantigen, fix complement and activate the terminal complement cascade...
May 2011: Auto- Immunity Highlights
Z Grover, P Lewindon, A Clousten, A Shaag, O Elpeleg, D Coman
Defects in the mitochondrial respiratory chain can induce a heterogeneous range of clinical and biochemical manifestations. Hepatic involvement includes acute fulminant hepatic failure, microvesicular steatosis, neonatal non-alloimmune haemochromatosis and cirrhosis. Recently pathogenic mutations in tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) gene (OMIM 610230) have been demonstrated to cause transient infantile liver failure (OMIM 613070). The human TRMU gene encodes a mitochondrial protein, 5-methylaminomethyl-2-thiouridylate methyltransferase, whose molecular function is that of mitochondrial tRNA modification...
2015: JIMD Reports
Julien Baruteau, Sophie Heissat, Pierre Broué, Sophie Collardeau-Frachon, Raymonde Bouvier, Monique Fabre, Hannah Debiec, Pierre Ronco, Martine Uzan, Philippe Narcy, Marie-Pierre Cordier, Alain Lachaux, Thierry Lamireau, Christophe Elleau, Jean Philippe Filet, Delphine Mitanchez, Marie-Pierre Dupuy, Jean François Salaün, Sylvie Odent, James Davison, Dominique Debray, Vincent Guigonis
OBJECTIVES: Neonatal haemochromatosis is a rare gestational disease that results in severe foetal liver disease with extrahepatic iron overload, sparing the reticuloendothelial system. Recurrence can be prevented with intravenous immunoglobulin (IVIG) infusions during pregnancy, supporting an alloimmune aetiology. The aim of the study was to assess the effect of antenatal treatment with IVIG infusion on the outcome of pregnancies in women with a history of documented neonatal haemochromatosis likely owing to gestational alloimmune disease and to analyse IVIG tolerance...
November 2014: Journal of Pediatric Gastroenterology and Nutrition
Giuseppe Indolfi, Rita Bèrczes, Isabella Pelliccioli, Michela Bosisio, Cristina Agostinis, Massimo Resti, Marco Zambelli, Alessandro Lucianetti, Michele Colledan, Lorenzo D'Antiga
Neonatal haemochromatosis is a rare alloimmune gestational disease with a high mortality. The hallmark of neonatal haemochromatosis is severe neonatal liver failure associated with extrahepatic siderosis. Thus far, no pituitary dysfunction has been reported to result from the tissue damage associated with extrahepatic siderosis. The present report describes a neonate with neonatal haemochromatosis and secondary hypothyroidism associated with pituitary iron deposition. Both the conditions were successfully treated by ABO-incompatible liver transplantation...
August 2014: Transplant International: Official Journal of the European Society for Organ Transplantation
Renata Mojzikova, Pavla Koralkova, Dusan Holub, Zuzana Zidova, Dagmar Pospisilova, Jaroslav Cermak, Zuzana Striezencova Laluhova, Karel Indrak, Martina Sukova, Martina Partschova, Jana Kucerova, Monika Horvathova, Vladimir Divoky
Pyruvate kinase (PK) deficiency is an iron-loading anaemia characterized by chronic haemolysis, ineffective erythropoiesis and a requirement for blood transfusion in most cases. We studied 11 patients from 10 unrelated families and found nine different disease-causing PKLR mutations. Two of these mutations - the point mutation c.878A>T (p.Asp293Val) and the frameshift deletion c.1553delG (p.(Arg518Leufs*12)) - have not been previously described in the literature. This frameshift deletion was associated with an unusually severe phenotype involving neonatal hyperferritinaemia that is not typical of PK deficiency...
May 2014: British Journal of Haematology
Daniel S Smyk, Maria G Mytilinaiou, Tassos Grammatikopoulos, A S Knisely, Giorgina Mieli-Vergani, Dimitrios P Bogdanos, Diego Vergani
BACKGROUND AND AIM: Neonatal hemochromatosis (NH) is characterised by severe liver injury and extrahepatic siderosis sparing the reticuloendothelial system. Its aetiology is obscure, although it has been proposed as an alloimmune disease, resulting from immunological reaction to self-antigens (alloantigens) which the body recognizes as foreign. We studied an infant with NH and his mother whose sera contained antimitochondrial antibody (AMA), the hallmark of primary biliary cirrhosis (PBC)...
2013: Clinical & Developmental Immunology
Marie-Claire Gubler
Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. In most cases, early death occurs from pulmonary hypoplasia, anuria and refractory arterial hypotension. RTD may be acquired during foetal development or inherited as an autosomal recessive disease. Inherited RTD is genetically heterogeneous and linked to mutations in the genes encoding the major components of the renin-angiotensin system (RAS): angiotensinogen, renin, angiotensin-converting enzyme or angiotensin II receptor type 1...
January 2014: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Sophie Collardeau-Frachon, Sophie Heissat, Raymonde Bouvier, Monique Fabre, Julien Baruteau, Pierre Broue, Marie-Pierre Cordier, Dominique Debray, Hanna Debiec, Pierre Ronco, Vincent Guigonis
Neonatal hemochromatosis is a rare disease that causes fetal loss and neonatal death in the 1st weeks of life and is one of the most common causes of liver failure in the neonate. The diagnosis is mostly made retrospectively, based on histopathologic features of severe liver fibrosis associated with hepatic and extrahepatic siderosis. Several etiologies may underlie this phenotype, including a recently hypothesized gestational alloimmune disease. Fifty-one cases of liver failure with intrahepatic siderosis in fetuses and neonates were analyzed retrospectively...
November 2012: Pediatric and Developmental Pathology
Susana Nobre, Manuela Grazina, Francisco Silva, Carla Pinto, Isabel Gonçalves, Luísa Diogo
Deoxyguanosine kinase (dGK) deficiency, a rare severe cause of mitochondrial DNA (mtDNA) depletion, has two forms of presentation: hepatocerebral syndrome and isolated hepatic disease. The authors report three cases with neonatal liver failure due to dGK deficiency. Consanguinity was present in all patients. One patient had a brother who died with a probable diagnosis of neonatal haemochromatosis. All patients had progressive cholestatic liver failure, hypoglycaemia, hyperlactacidaemia, elevated ferritin levels and nystagmus, since first day of life...
2012: BMJ Case Reports
D Faas, R Axt-Fliedner, K-P Zimmer, M Heckmann
Neonatal haemochromatosis (NH) is a connatal hepatopathy that is lethal in 32% and necessitates liver transplantation in 63% of the survivors. The classical diagnostic criteria of extrahepatic siderosis do not apply in all patients who are suspected to have NH. The hypothesis of NH as an alloimmune disease is supported by the quantitative immunohistochemical proof of C5b-9 complement complexes on the hepatocytes of liver biopsy material. This has opened a new perspective in the therapy and prophylaxis for this severe disease...
December 2011: Zeitschrift Für Geburtshilfe und Neonatologie
Marie Cassart, Freddy Efraim Avni, Laurent Guibaud, Marc Molho, Nicky D'Haene, Alain Paupe
OBJECTIVE: To assess the potential role of MR imaging in the diagnosis of fetal liver iron overload. METHODS: We reviewed seven cases of abnormal liver signal in fetuses referred to MR imaging in a context of suspected congenital infection (n = 2), digestive tract anomalies (n = 3) and hydrops fetalis (n = 2). The average GA of the fetuses was 31 weeks. The antenatal diagnoses were compared with histological data (n = 6) and postnatal work-up (n = 1). RESULTS: Magnetic resonance imaging demonstrated unexpected abnormal fetal liver signal suggestive of iron overload in all cases...
February 2011: European Radiology
Michael C Nicholl
No abstract text is available yet for this article.
August 2010: Australian & New Zealand Journal of Obstetrics & Gynaecology
R J Mackay, D Bratkovic, R Couper, G P Davidson, R Fahy, J M Fletcher, E Ranieri
Two neonates were identified at age 48 h by expanded newborn screening, with abnormal methionine and tyrosine concentrations, which were confirmed on repeat samples. Evidence of previously unsuspected liver disease was found at recall, and there was radiological and biochemical evidence of severe liver disease with hepatic synthetic failure. After inborn errors of metabolism (IEMs) were excluded, both were considered to have neonatal haemochromatosis, on the basis of raised ferritin, iron saturation, and very high α-fetoprotein and confirmed by a mildly hyperferritinaemic sibling in the first case, and raised ferritin and iron saturation in the second...
December 2008: Journal of Inherited Metabolic Disease
M P Thornton, S S Marven, M S Tanner, B Gürtl-Lackner
We describe, to our knowledge, the first case of progressive neonatal liver failure due to neonatal haemochromatosis (NH) occurring in an infant with a gastroschisis and review the literature regarding these two conditions. A 1,665 g male infant with antenatally diagnosed gastroschisis was born with a severe coagulopathy, anaemia, thrombocytopenia, hypoglycaemia and jaundice. He developed progressive liver failure, complicated by necrotising enterocolitis. Serum ferritin was elevated at 1,459 microg/L. He died on day 40 and a limited post-mortem examination confirmed significant hepatic siderosis with fibrosis and cholestasis, and siderosis of the pancreas...
May 2008: Pediatric Surgery International
N Carrabin, M-P Cordier, P Gaucherand
Two patients, with prior affected children with Neonatal Haemochromatosis [NH], benefited from intravenous immunoglobulin treatment during their following pregnancy in order to prevent recurrent NH. Whereas NH is a severe disease with high risk of recurrence and high mortality rate (about 80%), a recent treatment was suggested in the USA, which seems to completely modify the prognosis of this pathology. We proposed this treatment for two patients with indeed apparent benefit, giving birth to two healthy babies...
June 2007: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
J Leyden, B Kelleher, E Ryan, S Barrett, J C O'Keane, J Crowe
BACKGROUND: Hereditary Haemochromatosis (HH) and Coeliac disease (CD) are common disorders in Northern European populations, particularly the Irish population. AIMS: To investigate whether there was increased frequency of the two common HFE gene mutations, C282Y and H63D, associated with HH amongst a cohort of CD patients, and to determine the penetrance of the HH associated genotypes in this cohort. METHODS: HFE genotypes of a cohort of CD patients were determined using standard PCR techniques...
January 2006: Irish Journal of Medical Science
M Cimburová, I Půtová, H Provazníková, D Pintérová, J Horák
HFE-linked hereditary haemochromatosis is a common autosomal recessive disease among Caucasians. The primary pathogenetic mechanism is excessive absorption of iron, which is deposited in various organs with their subsequent damage. In 1996 the gene responsible for haemochromatosis was detected--the HFE gene and its major mutation C282Y. The discovery of further mutations followed. Two sites of point mutations in the HFE gene, C282Y and H63D, are associated with more than 80% of haemochromatosis cases. Another mutation-- S65C--was detected on 8% of chromosomes of haemochromatosis patients, which were negative for mutations C282Y or H63D...
2005: Folia Biologica (Praha)
Joannie Hui, Denise M Kirby, David R Thorburn, Avihu Boneh
The aim of this study was to illustrate the difficulties in establishing a diagnosis of mitochondrial respiratory chain (MRC) disorders based on clinical grounds in combination with intermediate activities of the MRC enzyme complexes. We reviewed retrospectively all medical and laboratory records of patients initially considered likely to have MRC disorders on clinical grounds, and subsequently diagnosed with other disorders (n = 20; 11 males, 9 females). Data were retrieved from hospital records, referral letters, and results of enzymatic analysis at a reference laboratory...
February 2006: Developmental Medicine and Child Neurology
E Cadet, D Capron, M Gallet, M-L Omanga-Léké, H Boutignon, C Julier, K J H Robson, J Rochette
BACKGROUND: Genetic testing can determine those at risk for hereditary haemochromatosis (HH) caused by HFE mutations before the onset of symptoms. However, there is no optimum screening strategy, mainly owing to the variable penetrance in those who are homozygous for the HFE Cys282Tyr (C282Y) mutation. The objective of this study was to identify the majority of individuals at serious risk of developing HFE haemochromatosis before they developed life threatening complications. METHODS: We first estimated the therapeutic penetrance of the C282Y mutation in people living in la Somme, France, using genetic, demographic, biochemical, and follow up data...
May 2005: Journal of Medical Genetics
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