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CES Medicina
Print version ISSN 0120-8705
Abstract
VARGAS RODRIGUEZ, Ledmar Jovanny et al. Imerslund-Gränsbeck Syndrome: systematic review of clinical cases. CES Med. [online]. 2022, vol.36, n.3, pp.26-37. Epub Jan 20, 2023. ISSN 0120-8705. https://doi.org/10.21615/cesmedicina.6781.
Introduction:
Imerslund-Gränsbeck Syndrome is an unusual congenital disorder that causes a decrease in vitamin B12, megaloblastic anemia and proteinuria without kidney involvement that is caused by a mutation of chromosomes 10 and 14, which determine a defect in the complex receptor vitamin B12-ileal enterocyte intrinsic factor. It was described by Olga Imerslund and Armas Gransbeck.
Objective:
to characterize the population that has suffered from Imerslund Gränsbeck syndrome.
Methodology:
systematic review of the clinical case literature.
Results:
68 cases were included, in most cases the diagnosis in the first 10 years of life, in which a higher frequency was found in women, and was found to be associated with family history such as consanguinity between parents (14.6%). The most frequent manifestation was paleness (20.9%), followed by vomiting (10.5%) and anorexia (9.8%). Megaloblastic anemia (66.2%) was the most frequent finding and treatment was given with cyanocobalamin (intramuscular or oral) to regulate plasma concentrations of this vitamin.
Conclusion:
Imerslund-Gränsbeck Syndrome has a low prevalence and occurs more frequently in the European continent, has a predilection for females and is characterized by a decrease in vitamin B12 that may predispose to other disorders such as ataxia and retardation in growth.
Keywords : Imerslund-Gränsbeck Syndrome; recessive megaloblastic anemia; proteinuria; vitamin B12; cobalamin.