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Neonatal hemochromatosis(CONGENITAL)

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
Synonyms: ALLOIMMUNE HEPATITIS, CONGENITAL; GIANT CELL HEPATITIS; Giant Cell Hepatitis (formerly); Idiopathic neonatal Hemochromatosis; NEONATAL HEPATITIS; Neonatal hepatitis (formerly)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Neonatal hemochromatosis (6160004); Neonatal giant cell hepatitis (6160004); Idiopathic neonatal hemochromatosis (6160004)
 
OMIM®: 231100
Orphanet: ORPHA446

Definition

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

Clinical features

Cholestasis
MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS).
Neonatal jaundice
MedGen UID:
5923
Concept ID:
C0022353
Disease or Syndrome
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Liver Cirrhosis
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to . -Easy bruising or bleeding, or nosebleeds. -Swelling of the abdomen or legs . -Extra sensitivity to medicines. -High blood pressure in the vein entering the liver. -Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure. -Jaundice. -Severe itching. -Gallstones. A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hepatic failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
severe inability of the liver to function normally, as evidenced by severe jaundice and abnormal levels of ammonia, bilirubin, alkaline phosphatase, glutamic oxaloacetic transaminase, lactic dehydrogenase, and reversal of the albumin/globulin ratio.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Hepatocellular necrosis
MedGen UID:
343247
Concept ID:
C1855038
Disease or Syndrome
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), and congenital disorder of glycosylation type Ia (212065).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal hemochromatosis
Follow this link to review classifications for Neonatal hemochromatosis in Orphanet.

Recent clinical studies

Etiology

Sheflin-Findling S, Annunziato RA, Chu J, Arvelakis A, Mahon D, Arnon R
Pediatr Transplant 2015 Mar;19(2):164-9. Epub 2015 Jan 3 doi: 10.1111/petr.12418. PMID: 25557040
Heissat S, Collardeau-Frachon S, Baruteau J, Dubruc E, Bouvier R, Fabre M, Cordier MP, Broué P, Guigonis V, Debray D
J Pediatr 2015 Jan;166(1):66-73. Epub 2014 Oct 23 doi: 10.1016/j.jpeds.2014.09.030. PMID: 25444000
Isa HM, Mohamed AM
Saudi Med J 2013 Dec;34(12):1274-80. PMID: 24343468
Collardeau-Frachon S, Heissat S, Bouvier R, Fabre M, Baruteau J, Broue P, Cordier MP, Debray D, Debiec H, Ronco P, Guigonis V
Pediatr Dev Pathol 2012 Nov-Dec;15(6):450-70. Epub 2012 Aug 17 doi: 10.2350/12-02-1155-OA.1. PMID: 22901025
Whitington PF, Kelly S
Pediatrics 2008 Jun;121(6):e1615-21. Epub 2008 May 12 doi: 10.1542/peds.2007-3107. PMID: 18474533

Diagnosis

Korkmaz L, Baştuğ O, Daar G, Doğanay S, Deniz K, Kurtoğlu S
J Neonatal Perinatal Med 2015;8(4):413-6. doi: 10.3233/NPM-1577113. PMID: 26836824
Heissat S, Collardeau-Frachon S, Baruteau J, Dubruc E, Bouvier R, Fabre M, Cordier MP, Broué P, Guigonis V, Debray D
J Pediatr 2015 Jan;166(1):66-73. Epub 2014 Oct 23 doi: 10.1016/j.jpeds.2014.09.030. PMID: 25444000
Schoennagel BP, Remus CC, Wedegaertner U, Salzmann I, Grabhorn E, Adam G, Fischer R, Harmatz P, Kooijman H, Yamamura J
Magn Reson Med Sci 2014;13(3):167-73. Epub 2014 Jul 2 PMID: 24990465
Isa HM, Mohamed AM
Saudi Med J 2013 Dec;34(12):1274-80. PMID: 24343468
Collardeau-Frachon S, Heissat S, Bouvier R, Fabre M, Baruteau J, Broue P, Cordier MP, Debray D, Debiec H, Ronco P, Guigonis V
Pediatr Dev Pathol 2012 Nov-Dec;15(6):450-70. Epub 2012 Aug 17 doi: 10.2350/12-02-1155-OA.1. PMID: 22901025

Therapy

Korkmaz L, Baştuğ O, Daar G, Doğanay S, Deniz K, Kurtoğlu S
J Neonatal Perinatal Med 2015;8(4):413-6. doi: 10.3233/NPM-1577113. PMID: 26836824
Jimenez-Rivera C, Gupta A, Feberova J, de Nanassy JA, Boland MP
J Neonatal Perinatal Med 2014;7(4):301-4. doi: 10.3233/NPM-14814026. PMID: 25468619
Collardeau-Frachon S, Heissat S, Bouvier R, Fabre M, Baruteau J, Broue P, Cordier MP, Debray D, Debiec H, Ronco P, Guigonis V
Pediatr Dev Pathol 2012 Nov-Dec;15(6):450-70. Epub 2012 Aug 17 doi: 10.2350/12-02-1155-OA.1. PMID: 22901025
Tanaka H, Haba R, Itoh S, Sakamoto H, Hata T
J Obstet Gynaecol Res 2011 Dec;37(12):1891-4. Epub 2011 Nov 9 doi: 10.1111/j.1447-0756.2011.01680.x. PMID: 22070213
Whitington PF, Kelly S
Pediatrics 2008 Jun;121(6):e1615-21. Epub 2008 May 12 doi: 10.1542/peds.2007-3107. PMID: 18474533

Prognosis

Korkmaz L, Baştuğ O, Daar G, Doğanay S, Deniz K, Kurtoğlu S
J Neonatal Perinatal Med 2015;8(4):413-6. doi: 10.3233/NPM-1577113. PMID: 26836824
Lopriore E, Mearin ML, Oepkes D, Devlieger R, Whitington PF
Prenat Diagn 2013 Dec;33(13):1221-5. Epub 2013 Oct 4 doi: 10.1002/pd.4232. PMID: 24030714
Babor F, Hadzik B, Stannigel H, Mayatepek E, Hoehn T
J Perinatol 2013 Jan;33(1):83-5. doi: 10.1038/jp.2012.9. PMID: 23269232
Tsai A, Paltiel HJ, Sena LM, Kim HB, Fishman SJ, Alomari AI
Pediatr Radiol 2009 Aug;39(8):823-7. Epub 2009 May 21 doi: 10.1007/s00247-009-1294-6. PMID: 19458947
Timpani G, Foti F, Nicolò A, Nicotina PA, Nicastro E, Iorio R
J Hepatol 2007 Nov;47(5):732-5. Epub 2007 Aug 30 doi: 10.1016/j.jhep.2007.07.018. PMID: 17869371

Clinical prediction guides

Collardeau-Frachon S, Heissat S, Bouvier R, Fabre M, Baruteau J, Broue P, Cordier MP, Debray D, Debiec H, Ronco P, Guigonis V
Pediatr Dev Pathol 2012 Nov-Dec;15(6):450-70. Epub 2012 Aug 17 doi: 10.2350/12-02-1155-OA.1. PMID: 22901025
Maldonado RS, Freedman SF, Cotten CM, Ferranti JM, Toth CA
J AAPOS 2011 Feb;15(1):91-3. doi: 10.1016/j.jaapos.2010.11.016. PMID: 21397814Free PMC Article
Knisely AS, Mieli-Vergani G, Whitington PF
Gastroenterol Clin North Am 2003 Sep;32(3):877-89, vi-vii. PMID: 14562579
Aksoy F, Göksel S, Ilvan S, Dervişoğlu S, Ramazanoğlu R
Turk J Pediatr 2000 Oct-Dec;42(4):334-7. PMID: 11196755
Kershisnik MM, Knisely AS, Sun CC, Andrews JM, Wittwer CT
Hum Pathol 1992 Sep;23(9):1075-80. PMID: 1325409

Recent systematic reviews

Tsai A, Paltiel HJ, Sena LM, Kim HB, Fishman SJ, Alomari AI
Pediatr Radiol 2009 Aug;39(8):823-7. Epub 2009 May 21 doi: 10.1007/s00247-009-1294-6. PMID: 19458947

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