Read by QxMD icon Read

Neonatal hemochromatosis

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...
October 6, 2016: Obstetrics and Gynecology
Noriki Okada, Yoshiyuki Ihara, Taizen Urahashi, Yukihiro Sanada, Naoya Yamada, Yuta Hirata, Masahisa Tashiro, Takumi Katano, Kentaro Ushijima, Shinya Otomo, Hironori Takahashi, Shigeki Matsubara, Koichi Mizuta
Neonatal hemochromatosis (NH) is a rare disease with a poor prognosis, particularly prior to 2008. Antenatal maternal high-dose immunoglobulin (Ig) is effective in preventing NH recurrence, but the adverse effects of this treatment have not been documented as yet. Here, we report on a patient who underwent high-dose Ig treatment to prevent NH recurrence. The patient was a 31-year-old pregnant Japanese woman. Her first child died of NH after receiving living donor liver transplantation. The patient received high-dose Ig treatment to prevent recurrence of NH from gestational weeks 16 to 35...
August 10, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Shin Jie Choi, Jong Sub Choi, Peter Chun, Jung Kyung Yoo, Jin Soo Moon, Jae Sung Ko, Woo Sun Kim, Gyeong Hoon Kang, Nam-Joon Yi
Neonatal hemochromatosis (NH) is a severe neonatal liver injury that is confirmed by extra-hepatic iron accumulation. Although a recent study described treating NH with exchange transfusions and intravenous immunoglobulin, liver transplantation should be considered for patients with severe liver failure that does not respond to other medical treatment. Herein, we report the case of a two-month-old female infant who presented with persistent ascites and hyperbilirubinemia. Her laboratory findings demonstrated severe coagulopathy, high indirect and direct bilirubin levels, and high ferritin levels...
June 2016: Pediatric Gastroenterology, Hepatology & Nutrition
Sara Nóbrega, Isabelle Scheers, Francoise Smets, Massimiliano Paganelli, Christine Sempoux, Xavier Stephenne, Etienne M Sokal
No abstract text is available yet for this article.
July 11, 2016: Journal of Pediatric Gastroenterology and Nutrition
Aiko Sasaki, Kenichiro Motomura, Fumiwo Suyama, Junko Nagasawa, Michi Hisano, Reiko Ito, Osamu Miyazaki, Atsuko Nakazawa, Yushi Ito, Mureo Kasahara, Akihiro Asai, Kenji Matsumoto, Haruhiko Sago, Koshi Yamaguchi
No abstract text is available yet for this article.
November 2016: Journal of Pediatric Gastroenterology and Nutrition
Haizhen Wang, Xue Jiang, Jieyu Wu, Linqiang Zhang, Jingfei Huang, Yuru Zhang, Xiaoju Zou, Bin Liang
The trace element iron is crucial for living organisms, since it plays essential roles in numerous cellular functions. Systemic iron overload and the elevated level of ferritin, a ubiquitous intracellular protein that stores and releases iron to maintain the iron homeostasis in cells, has long been epidemiologically associated with obesity and obesity-related diseases. However, the underlying mechanisms of this association remain unclear. Here, using Caenorhabditis elegans, we show that iron overload induces the expression of sgk-1, encoding the serum and glucocorticoid-inducible kinase, to promote the level of ferritin and fat accumulation...
May 2016: Genetics
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
Uta Koura, Shinjiro Horikawa, Mako Okabe, Yukako Kawasaki, Masami Makimoto, Koichi Mizuta, Taketoshi Yoshida
We report the first surviving case of neonatal hemochromatosis with renal tubular dysgenesis. Renal failure was treated with peritoneal dialysis. Although hepatic failure from neonatal hemochromatosis was progressive, repeated exchange transfusions improved jaundice and coagulopathy. The patient gained weight and received a liver transplantation from her father.
August 2015: Clinical Case Reports
C Molera Busoms, J Quintero Bernabeu, J Martín de Carpi
Neonatal hemochromatosis is the most common cause of acute liver failure in the neonatal period. It is associated with high morbidity and mortality due to iron overload in hepatic and extra-hepatic tissues. New evidence has emerged during the last few years as regards its alloimmune etiology, which have had an important repercussion on the diagnosis, treatment and prognosis of these patients. Treatment with immunoglobulins and exchange transfusions has radically changed the prognosis without liver transplant...
September 2015: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
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
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
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
(no author information available yet)
No abstract text is available yet for this article.
July 2014: Journal of Pediatric Gastroenterology and Nutrition
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
Marie-Anne Brundler
The pathologist may encounter perinatal liver disease at autopsy, when examining a stillbirth or neonatal death, or on liver biopsy to investigate the cause of neonatal jaundice or liver failure. This presentation aims to discuss the pathology of liver disease of intrauterine or neonatal onset. A pattern based approach is used. Even when a specific diagnosis is not reached, identification of the pattern of liver injury, in conjunction with clinical and laboratory findings often narrows the differential diagnosis and thereby assists in further decision making...
October 2014: Pathology
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
Ayelet Machtei, Gil Klinger, Rivka Shapiro, Osnat Konen, Lea Sirota
Neonatal hemochromatosis (NH) is an acute liver disease associated with both hepatic and extrahepatic iron deposition and is a leading cause of neonatal liver transplantation. The concept that NH is an alloimmune disease has led to the emergence of a new treatment approach utilizing exchange transfusion and intravenous immunoglobulin therapy. We present a two-day old neonate with progressive liver dysfunction who was diagnosed with NH. Magnetic resonance imaging confirmed tissue iron overload. Treatment with intravenous immunoglobulins and exchange transfusion led to rapid improvement in liver function...
2014: Case Reports in Critical Care
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"