Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child
European Journal of Medical Genetics, cilt.63, sa.6, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Kısa Makale
- Cilt numarası: 63 Sayı: 6
- Basım Tarihi: 2020
- Doi Numarası: 10.1016/j.ejmg.2020.103880
- Dergi Adı: European Journal of Medical Genetics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
- Anahtar Kelimeler: Amnionless, Children, Imerslund-grasbeck syndrome, Thrombotic microangiopathy, Vitamin B12 deficiency
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.