Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child
Imerslund-Gräsbeck Syndrome is a rare autosomal recessive disorder characterized by proteinuria and selective malabsorption of cobalamin. Deficiency of cobalamin can lead to megaloblastic anemia, pancytopenia and even “pseudo”-thrombotic microangiopathy (TMA). Signs of mechanical hemolysis on periph...
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| Published in: | European journal of medical genetics Vol. 63; no. 6; p. 103880 |
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01-06-2020
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| Abstract | Imerslund-Gräsbeck Syndrome is a rare autosomal recessive disorder characterized by proteinuria and selective malabsorption of cobalamin. Deficiency of cobalamin can lead to megaloblastic anemia, pancytopenia and even “pseudo”-thrombotic microangiopathy (TMA). Signs of mechanical hemolysis on peripheral blood smear, elevated lactate dehydrogenase and thrombocytopenia are common findings of TMA. We report a child presenting with TMA features with cobalamin deficiency. Because of her family history of vitamin B12 deficiency and proteinuria, the performed genetic analysis revealed that an Imerslund-Gräsbeck Syndrome with the detection of a homozygous mutation in AMN gene. |
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| AbstractList | Imerslund-Gräsbeck Syndrome is a rare autosomal recessive disorder characterized by proteinuria and selective malabsorption of cobalamin. Deficiency of cobalamin can lead to megaloblastic anemia, pancytopenia and even “pseudo”-thrombotic microangiopathy (TMA). Signs of mechanical hemolysis on peripheral blood smear, elevated lactate dehydrogenase and thrombocytopenia are common findings of TMA. We report a child presenting with TMA features with cobalamin deficiency. Because of her family history of vitamin B12 deficiency and proteinuria, the performed genetic analysis revealed that an Imerslund-Gräsbeck Syndrome with the detection of a homozygous mutation in AMN gene. |
| ArticleNumber | 103880 |
| Author | Gurlek Gokcebay, Dilek Cavdarli, Busranur Akpinar Tekgunduz, Sibel |
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| Cites_doi | 10.1002/pbc.21788 10.1111/j.1365-2257.2006.00755.x 10.1038/ng1098 10.1056/NEJMcp1113996 10.1111/ped.12718 10.4103/2249-4863.152276 10.1016/j.jpeds.2018.06.054 10.1152/ajpheart.01189.2006 10.1136/bcr.02.2011.3835 10.1186/1756-8722-1-26 10.1136/bcr-2015-209718 10.1097/MPH.0b013e3181ced271 10.1074/jbc.M501452200 10.1038/6831 10.1002/humu.20014 10.1016/j.amjmed.2006.02.001 |
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| Keywords | Thrombotic microangiopathy Children Amnionless Imerslund-gräsbeck syndrome Vitamin B12 deficiency |
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Chem. doi: 10.1074/jbc.M501452200 contributor: fullname: Handy – volume: 21 start-page: 309 year: 1999 ident: 10.1016/j.ejmg.2020.103880_bib2 article-title: Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anemia publication-title: Nat. Genet. doi: 10.1038/6831 contributor: fullname: Aminoff – volume: 23 start-page: 327 year: 2004 ident: 10.1016/j.ejmg.2020.103880_bib17 article-title: Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity and high clinical awareness explain aggregation in Scandinavia and the Middle East publication-title: Hum. Mutat. doi: 10.1002/humu.20014 contributor: fullname: Tanner – volume: 119 start-page: e3 year: 2006 ident: 10.1016/j.ejmg.2020.103880_bib4 article-title: Pseudo-thrombotic microangiopathy related to cobalamin deficiency publication-title: Am. J. Med. doi: 10.1016/j.amjmed.2006.02.001 contributor: fullname: Andres |
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| SubjectTerms | Amnionless Anemia, Hemolytic - genetics Anemia, Hemolytic - pathology Anemia, Megaloblastic - genetics Anemia, Megaloblastic - pathology Child Children Female Homozygote Humans Imerslund-gräsbeck syndrome Infant Malabsorption Syndromes - genetics Malabsorption Syndromes - pathology Male Membrane Proteins - genetics Mutation Pedigree Proteinuria - genetics Proteinuria - pathology Thrombotic microangiopathy Vitamin B 12 Deficiency - genetics Vitamin B 12 Deficiency - pathology Vitamin B12 deficiency |
| Title | Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child |
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