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Hemochromatosis newborn

Djamila L Ghafuri, Sarah-Jo Stimpson, Melissa E Day, Andra James, Michael R DeBaun, Deva Sharma
Sickle cell disease (SCD) represents one of the most common monogenic blood disorders worldwide, with an incidence of over 300,000 newborns affected per year. Reproductive challenges for men and women with SCD have been previously reviewed; however, evidence-based strategies to prevent and manage infertility and increase fecundity are lacking in women with SCD, which is one of the most important factors for quality of life. Areas covered: This review article summarizes the known risk factors for infertility, low fecundity, and premature menopause related to SCD...
October 2017: Expert Review of Hematology
Sara Laliena Aznar, Inés Martínez Redondo, María J Oliván Del Cacho, María Martínez Del Moral, Raquel Pinillos Pisón
Gestational alloimmune liver disease, previously known as neonatal hemochromatosis, is characterized by severe liver disease in neonatal period, associated with intra and extrahepatic iron accumulation. It is postulated an alloimmune origin, which has opened new opportunities in the treatment and prevention during risk pregnancies, changing the prognosis of this pathology. We report the case of a newborn that presents early liver failure, with clinical and analytical features compatible with gestational alloimmune liver disease...
December 1, 2016: Archivos Argentinos de Pediatría
Hannah B Anastasio, Maureen Grundy, Meredith L Birsner, Karin J Blakemore
BACKGROUND: Gestational alloimmune liver disease, a form of profound liver failure in the newborn, is the main underlying cause of the entity formerly known as neonatal hemochromatosis. Antepartum maternal intravenous immunoglobulin (IVIG) has been shown to prevent gestational alloimmune liver disease, which otherwise has a recurrence risk above 90% in subsequent pregnancies. CASE: A 30-year-old woman, gravida 3 para 0120, presented early in gestation. Her previous pregnancy had been complicated by fetal growth restriction, oligohydramnios, and ultimately fatal fulminant neonatal liver failure...
November 2016: Obstetrics and Gynecology
You-Lin Tain, Hsing Luh, Ching-Yuang Lin, Chien-Ning Hsu
Congenital anomalies of the kidney and urinary tract (CAKUT) are 1 of the major factors in young adults needing renal replacement therapy, but there is little extensive assessment of their incidence and risk factors. This study aimed to evaluate trends in the incidence of and risk factors for CAKUT among all births in Taiwan.This population-based case-control study design was conducted using the Taiwan national births registry, which contains detailed information about maternal health and characteristics of newborns, supplied by health professionals...
February 2016: Medicine (Baltimore)
L Korkmaz, O Baştuğ, G Daar, S Doğanay, K Deniz, S Kurtoğlu
Neonatal hemochromatosis (NH) is a form of neonatal liver failure caused by maternal-fetal alloimmune injury to hepatocytes. The etiology of neonatal hemochromatosis is not exactly understood. However, according to one theory neonatal hemochromatosis is believed to be an alloimmune disorder causing liver injury in the fetus. In order to diagnose neonatal hemochromatosis there are some criteria that should be taken into account, such as positive family history, high serum ferritin levels, high serum alpha-fetoprotein levels and siderosis demonstrated by histology or with magnetic resonance...
2015: Journal of Neonatal-perinatal Medicine
Serguei Roumiantsev, Uzma Shah, Sjirk J Westra, Joseph Misdraji
Presentation of Case. Dr. Emily B. Rubin (Pediatrics): A newborn girl was transferred to the neonatal intensive care unit (NICU) of this hospital on the first day of life because of hypotension, coagulopathy, anemia, and hyperbilirubinemia. At an affiliated hospital, the infant was born by cesarean..
June 25, 2015: New England Journal of Medicine
Zeliha Kayaalti, Dilek Kaya-Akyüzlü, Esma Söylemez, Tülin Söylemezoğlu
Human hemochromatosis protein (HFE), a major histocompatibility complex class I-like integral membrane protein, participates in the down regulation of intestinal iron absorption by binding to transferrin receptor (TR). HFE competes with transferrin-bound iron for the TR and thus reduces uptake of iron into cells. On the other hand, a lack of HFE increases the intestinal absorption of iron similarly to iron deficiency associated with increasing in absorption and deposition of lead. During pregnancy, placenta cannot prevent transfer lead to the fetus; even low-level lead poisoning causes neurodevelopmental toxicity in children...
July 2015: Environmental Research
H Melin-Aldana, C Park, X Pan, M Fritsch, P Malladi, P Whitington
Gestational alloimmune liver disease (GALD) is the result of neonatal complement-mediated severe liver injury mediated by maternal alloantibodies, which is detected by immunohistochemistry staining for the complement C5b-9 complex. GALD leads to the neonatal hemochromatosis (NH) phenotype, which also shows extrahepatic siderosis, and can result in neonatal death. At autopsy, the histologic damage of the liver in GALD may be subtle and misinterpreted as non-specific post-mortem changes, resulting in the cause of death classified as indeterminate...
March 12, 2015: Journal of Neonatal-perinatal Medicine
Amy G Feldman, Peter F Whitington
Neonatal hemochromatosis is a clinical condition in which severe liver disease in the newborn is accompanied by extrahepatic siderosis. Gestational alloimmune liver disease (GALD) has been established as the cause of fetal liver injury resulting in nearly all cases of NH. In GALD, a women is exposed to a fetal antigen that she does not recognize as "self" and subsequently begins to produce IgG antibodies that are directed against fetal hepatocytes. These antibodies bind to fetal liver antigen and activate the terminal complement cascade resulting in hepatocyte injury and death...
December 2013: Journal of Clinical and Experimental Hepatology
Sharon Lewin, James B Bussel
The fetoplacental interface plays a unique role in pathologies of the fetus and neonate, and is increasingly being recognized for effects on fetal and neonatal development that resonate into adulthood. In this review, we will use several exemplary disorders involving each of the 3 types of blood cells to explore the effect of perinatal insults on subsequent development of the affected cell line. We will present new data regarding outcomes of infants treated prenatally for fetal and neonatal alloimmune thrombocytopenia (FNAIT) and contrast these with outcomes of infants affected by hemolytic disease of the fetus and newborn...
January 2015: Clinical Advances in Hematology & Oncology: H&O
Shari Sheflin-Findling, Rachel A Annunziato, Jaime Chu, Antonios Arvelakis, Danielle Mahon, Ronen Arnon
NH is the most common identifiable cause of ALF in the neonate. LT is the definitive treatment for neonates with NH who have failed medical therapy. Our aim was to determine the outcomes of LT in infants with NH. Patients (less than one yr of age) with NH who were listed for LT and patients who underwent LT between 1994 and 2013 were identified from the UNOS database for analysis. Risk factors for death and graft loss were analyzed by multivariate logistic regression. Thirty-eight infants with NH with a total of 43 transplants were identified...
March 2015: Pediatric Transplantation
Yebin Tao, Brisa N Sánchez, Bhramar Mukherjee
Many existing cohort studies designed to investigate health effects of environmental exposures also collect data on genetic markers. The Early Life Exposures in Mexico to Environmental Toxicants project, for instance, has been genotyping single nucleotide polymorphisms on candidate genes involved in mental and nutrient metabolism and also in potentially shared metabolic pathways with the environmental exposures. Given the longitudinal nature of these cohort studies, rich exposure and outcome data are available to address novel questions regarding gene-environment interaction (G × E)...
March 30, 2015: Statistics in Medicine
C Jimenez-Rivera, A Gupta, J Feberova, J A de Nanassy, M P Boland
Neonatal hemochromatosis (NH) is a rare, often fatal disorder characterized by liver failure and hepatic and extrahepatic iron overload. Clinical manifestations can occur in utero or immediately after birth. Evidence suggests that most cases are due to a gestational disease with transplacental transfer of maternal IgG antibodies targeting the fetal liver resulting in immune injury. The alloimmune target is believed to be a fetal hepatocyte cell surface antigen, with subsequent complement activation resulting in severe loss of hepatocytes and fetal iron overload...
2014: Journal of Neonatal-perinatal Medicine
Sophie Heissat, Sophie Collardeau-Frachon, Julien Baruteau, Estelle Dubruc, Raymonde Bouvier, Monique Fabre, Marie Pierre Cordier, Pierre Broué, Vincent Guigonis, Dominique Debray
OBJECTIVE: To define an algorithm to improve diagnosis of neonatal hemochromatosis (NH) related to gestational alloimmune liver disease (GALD), which is diagnosed by immunohistochemistry demonstrating activated complement at hepatocytes (IDACH). STUDY DESIGN: We assessed 56 instances of fetal death or neonatal liver failure (NLF; 2006-2009), 29 (7 stillborns, 22 NLF) with NH, and 27 (5 stillborns, 22 NLF) without NH (non-NH). Immunohistochemistry was retrospectively performed in 21 cases...
January 2015: Journal of Pediatrics
L Cruz, R E Schnur, E M Post, H Bodagala, R Ahmed, C Smith, L B Lulis, G E Stahl, A Kushnir
Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis. Most reported cases have been associated with homozygous or compound heterozygous mutations in the RFX6 gene, a transcriptional regulatory factor for pancreatic morphogenesis. Given the limited number of reported cases, the syndrome may be under-recognized. When the particular phenotype of MFS includes a mutation on the RFX6 gene and neonatal diabetes, it has been called Mitchell-Riley syndrome...
December 2014: Journal of Perinatology: Official Journal of the California Perinatal Association
Akihiro Asai, Samyukta Malladi, Jonathan Misch, Xiaomin Pan, Padmini Malladi, Anna Mae Diehl, Peter F Whitington
Gestational alloimmune liver disease (GALD) produces severe neonatal liver disease that is notable for paucity of hepatocytes, large numbers of parenchymal tubules, and extensive fibrosis. Liver specimens from 19 GALD cases were studied in comparison with 14 infants without liver disease (normal newborn liver; NNL) to better understand the pathophysiology that would produce this characteristic histopathology. GALD liver parenchyma contained large numbers of tubules comprising epithelium expressing KRT7/19, EPCAM, and SOX9, suggesting biliary progenitor status...
January 2015: Human Pathology
Mateusz P Karwowski, Allan C Just, David C Bellinger, Rebecca Jim, Earl L Hatley, Adrienne S Ettinger, Howard Hu, Robert O Wright
BACKGROUND: Given the relationship between iron metabolism and lead toxicokinetics, we hypothesized that polymorphisms in iron metabolism genes might modify maternal-fetal lead transfer. The objective of this study was to determine whether maternal and/or infant transferrin (TF) and hemochromatosis (HFE) gene missense variants modify the association between maternal blood lead (MBL) and umbilical cord blood lead (UCBL). METHODS: We studied 476 mother-infant pairs whose archived blood specimens were genotyped for TF P570S, HFE H63D and HFE C282Y...
October 6, 2014: Environmental Health: a Global Access Science Source
Mehmet N Cizmeci, Demet Alagoz, Mehmet I Avsar, Gulten Alis, Murat Tutanc
Harlequin color change is a distinctive cutaneous phenomenon presenting as a well-demarcated color change, with half of the body displaying erythema and the other half pallor. Only a few cases have been reported, possibly because of under-recognition. Recognition of this benign, self-limited condition may enable physicians to avoid unnecessary interventions. Herein we describe a neonate with nonimmune hydrops fetalis due to neonatal hemochromatosis who developed Harlequin color change after abdominal paracentesis...
November 2014: Pediatric Dermatology
Tadahiro Yanagi, Tatsuki Mizuochi, Keiko Homma, Isao Ueki, Yoshitaka Seki, Tomonobu Hasegawa, Hajime Takei, Hiroshi Nittono, Takao Kurosawa, Toyojiro Matsuishi, Akihiko Kimura
OBJECTIVE: Deficiency of Δ(4) -3-oxosteroid 5β-reductase (5β-reductase), a bile acid synthesis disorder, presents findings of neonatal cholestasis and hyper-3-oxo-Δ(4) bile aciduria. The 5β-reductase enzyme participates in not only bile acid synthesis but also hepatic steroid metabolism. Deficiency of 5β-reductase includes 2 types: primary deficiency, with an SRD5B1 gene mutation; and secondary deficiency, lacking a mutation. Secondary deficiency is caused by fulminant liver failure from various aetiologies including neonatal hemochromatosis (NH)...
March 2015: Clinical Endocrinology
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
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