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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

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.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include . -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Increased serum iron
MedGen UID:
57739
Concept ID:
C0151900
Finding
Increased serum ferritin
MedGen UID:
892475
Concept ID:
C3854388
Disease or Syndrome
Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.

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

Okada N, Ihara Y, Urahashi T, Sanada Y, Yamada N, Hirata Y, Tashiro M, Katano T, Ushijima K, Otomo S, Takahashi H, Matsubara S, Mizuta K
Pediatr Int 2016 Oct;58(10):1059-1061. Epub 2016 Aug 10 doi: 10.1111/ped.13028. PMID: 27507570
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
Whitington PF, Kelly S
Pediatrics 2008 Jun;121(6):e1615-21. Epub 2008 May 12 doi: 10.1542/peds.2007-3107. PMID: 18474533

Prognosis

Okada N, Ihara Y, Urahashi T, Sanada Y, Yamada N, Hirata Y, Tashiro M, Katano T, Ushijima K, Otomo S, Takahashi H, Matsubara S, Mizuta K
Pediatr Int 2016 Oct;58(10):1059-1061. Epub 2016 Aug 10 doi: 10.1111/ped.13028. PMID: 27507570
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
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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