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Abnormality of iron homeostasis

MedGen UID:
869163
Concept ID:
C4023583
Finding
HPO: HP:0011031

Definition

An abnormality of the homeostasis (concentration) of iron cation. [from HPO]

Conditions with this feature

Neonatal hemochromatosis
MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
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).
Trichohepatoenteric syndrome 1
MedGen UID:
1644087
Concept ID:
C4551982
Disease or Syndrome
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.

Professional guidelines

PubMed

Zanfardino A, Bruzzi P, Trada M, Rapini N, Laudani E, Tornese G, Ortolani F, Piccolo G, Matonti L, Saltarelli MA, Timpanaro T, D'Annunzio G, Predieri B, Rossi F, Mura R, Barat V, Prete A, Schiaffini R, Zucchini S; Diabetes Study Group of the Italian Society for Pediatric Endocrinology and Diabetes
Pediatr Hematol Oncol 2024 Apr;41(3):198-210. Epub 2024 Jan 25 doi: 10.1080/08880018.2023.2295454. PMID: 38269620
Taubert R, Hardtke-Wolenski M, Noyan F, Lalanne C, Jonigk D, Schlue J, Krech T, Lichtinghagen R, Falk CS, Schlaphoff V, Bantel H, Muratori L, Manns MP, Jaeckel E
PLoS One 2017;12(6):e0179074. Epub 2017 Jun 8 doi: 10.1371/journal.pone.0179074. PMID: 28594937Free PMC Article
Lynch DR, Farmer JM, Balcer LJ, Wilson RB
Arch Neurol 2002 May;59(5):743-7. doi: 10.1001/archneur.59.5.743. PMID: 12020255

Recent clinical studies

Etiology

Srivastava NK, Mukherjee S, Mishra VN
Clin Nutr ESPEN 2023 Dec;58:277-294. Epub 2023 Oct 14 doi: 10.1016/j.clnesp.2023.10.006. PMID: 38057018
Kane SF, Roberts C, Paulus R
Am Fam Physician 2021 Sep 1;104(3):263-270. PMID: 34523883
Benson CS, Shah A, Stanworth SJ, Frise CJ, Spiby H, Lax SJ, Murray J, Klein AA
Anaesthesia 2021 Apr;76 Suppl 4:84-95. doi: 10.1111/anae.15405. PMID: 33682105
Ng SW, Norwitz SG, Taylor HS, Norwitz ER
Reprod Sci 2020 Jul;27(7):1383-1390. Epub 2020 Feb 19 doi: 10.1007/s43032-020-00164-z. PMID: 32077077
Barton JC, Acton RT
J Diabetes Res 2017;2017:9826930. Epub 2017 Feb 26 doi: 10.1155/2017/9826930. PMID: 28331855Free PMC Article

Diagnosis

Kane SF, Roberts C, Paulus R
Am Fam Physician 2021 Sep 1;104(3):263-270. PMID: 34523883
Wu L, Li Y, Gu N
Wiley Interdiscip Rev Nanomed Nanobiotechnol 2021 Mar;13(2):e1667. Epub 2020 Sep 6 doi: 10.1002/wnan.1667. PMID: 32893493
Xiong H, Tuo QZ, Guo YJ, Lei P
Adv Exp Med Biol 2019;1173:179-194. doi: 10.1007/978-981-13-9589-5_10. PMID: 31456211
Barton JC, Acton RT
J Diabetes Res 2017;2017:9826930. Epub 2017 Feb 26 doi: 10.1155/2017/9826930. PMID: 28331855Free PMC Article
Ward RJ, Zucca FA, Duyn JH, Crichton RR, Zecca L
Lancet Neurol 2014 Oct;13(10):1045-60. doi: 10.1016/S1474-4422(14)70117-6. PMID: 25231526Free PMC Article

Therapy

Packer M
Nat Rev Cardiol 2023 Jul;20(7):443-462. Epub 2023 Jan 6 doi: 10.1038/s41569-022-00824-4. PMID: 36609604
Cheng H, Feng D, Li X, Gao L, Tang S, Liu W, Wu X, Yue S, Li C, Luo Z
Biochim Biophys Acta Mol Basis Dis 2021 Dec 1;1867(12):166204. Epub 2021 Jun 24 doi: 10.1016/j.bbadis.2021.166204. PMID: 34175430
Benson CS, Shah A, Stanworth SJ, Frise CJ, Spiby H, Lax SJ, Murray J, Klein AA
Anaesthesia 2021 Apr;76 Suppl 4:84-95. doi: 10.1111/anae.15405. PMID: 33682105
Benotti PN, Wood GC, Still CD, Gerhard GS, Rolston DD, Bistrian BR
Obes Rev 2019 Apr;20(4):612-620. Epub 2018 Dec 27 doi: 10.1111/obr.12811. PMID: 30589498
Ward RJ, Zucca FA, Duyn JH, Crichton RR, Zecca L
Lancet Neurol 2014 Oct;13(10):1045-60. doi: 10.1016/S1474-4422(14)70117-6. PMID: 25231526Free PMC Article

Prognosis

Zhao K, Chen X, Bian Y, Zhou Z, Wei X, Zhang J
Naunyn Schmiedebergs Arch Pharmacol 2023 Oct;396(10):2269-2286. Epub 2023 Apr 29 doi: 10.1007/s00210-023-02506-5. PMID: 37119287
Massaiu I, Campodonico J, Mapelli M, Salvioni E, Valerio V, Moschetta D, Myasoedova VA, Cappellini MD, Pompilio G, Poggio P, Agostoni P
Int J Mol Sci 2023 Feb 2;24(3) doi: 10.3390/ijms24032887. PMID: 36769209Free PMC Article
Chen Z, Jiang J, Fu N, Chen L
J Drug Target 2022 Mar;30(3):244-258. Epub 2021 Aug 31 doi: 10.1080/1061186X.2021.1971237. PMID: 34415804
Kobak KA, Radwańska M, Dzięgała M, Kasztura M, Josiak K, Banasiak W, Ponikowski P, Jankowska EA
Heart Fail Rev 2019 Mar;24(2):269-277. doi: 10.1007/s10741-018-9738-4. PMID: 30284070Free PMC Article
Recalcati S, Gammella E, Cairo G
Free Radic Biol Med 2019 Mar;133:216-220. Epub 2018 Jul 21 doi: 10.1016/j.freeradbiomed.2018.07.015. PMID: 30040994

Clinical prediction guides

Packer M
Nat Rev Cardiol 2023 Jul;20(7):443-462. Epub 2023 Jan 6 doi: 10.1038/s41569-022-00824-4. PMID: 36609604
Peng Y, Chang X, Lang M
Int J Mol Sci 2021 Nov 18;22(22) doi: 10.3390/ijms222212442. PMID: 34830326Free PMC Article
Cheng H, Feng D, Li X, Gao L, Tang S, Liu W, Wu X, Yue S, Li C, Luo Z
Biochim Biophys Acta Mol Basis Dis 2021 Dec 1;1867(12):166204. Epub 2021 Jun 24 doi: 10.1016/j.bbadis.2021.166204. PMID: 34175430
Benson CS, Shah A, Stanworth SJ, Frise CJ, Spiby H, Lax SJ, Murray J, Klein AA
Anaesthesia 2021 Apr;76 Suppl 4:84-95. doi: 10.1111/anae.15405. PMID: 33682105
Xiong H, Tuo QZ, Guo YJ, Lei P
Adv Exp Med Biol 2019;1173:179-194. doi: 10.1007/978-981-13-9589-5_10. PMID: 31456211

Recent systematic reviews

Cheng Y, Chen Y, Shang H
Transl Neurodegener 2021 Jan 8;10(1):3. doi: 10.1186/s40035-020-00228-9. PMID: 33419478Free PMC Article
Soe HH, Abas AB, Than NN, Ni H, Singh J, Said AR, Osunkwo I
Cochrane Database Syst Rev 2017 Jan 20;1(1):CD010858. doi: 10.1002/14651858.CD010858.pub2. PMID: 28105733Free PMC Article
Steer K, Stavnichuk M, Morris M, Komarova SV
J Bone Miner Res 2017 Apr;32(4):731-742. Epub 2016 Nov 30 doi: 10.1002/jbmr.3026. PMID: 27787922

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