Igs is caused by specific malabsorption of cobalamin cbl due to biallelic mutations in either the cubilin gene cubn or the human amnionless homolog amn. A defect in either of these protein components can cause this syndrome. Decompensation tardive dune maladie d imerslund grasbeck belated decompensation of an imerslund grasbeck disease. Imerslundgrasbeck syndrome selective b12 malabsorption.
A third child had less severe vitamin b12 malabsorption, was not vitamin b12 deficient and had no proteinuria. The estimated prevalence calculated based on scandinavian data is less than 6. Other manifestations include failure to thrive and grow, infections and neurological. Grasbeck syndrome igs, omim 261100 is a rare autosomal recessive disease characterized by vitamin b12 malabsorption resulting in megaloblastic anemia and asymptomatic proteinuria. However, the mechanism by which this deficiency causes the stomatitis is not well understood. In the present case with igs, the novel intronic variant of amn was identified in trans with a known pathogenic variant c. Imerslundgrasbeck syndrome igs is a rare condition characterized by vitamin b12 deficiency, often causing megaloblastic anemia. Imerslundgrasbeck syndrome, is a rare autosomal recessive, familial form of vitamin b12. Causes and symptoms protein, fats, and carbohydrates. Several pathogenetic variants in the amnionless amn or cubilin cubn genes have been described in igs.
Grasbeck syndrome igs, omim 261100 is a rare autosomal recessive disease characterized by vitamin b12. We describe a case of igs with urinary tract infection and mild but persistent proteinuria at onset in an 11. Malabsorption syndrome definition of malabsorption. Other features may include failure to thrive, infections, and neurological damage. The primary feature of this condition is a blood disorder called megaloblastic anemia. We wish to report the first case described from africa. Mutations in three genes reveal functional and ethnic patterns pdf. The cblif complex subsequently binds to cubam, a heteromeric, multiligand, endocytic receptor, consisting of 2 proteins, amnionless amn and cubilin cubn. Imerslund grasbeck syndrome igs or selective vitamin b 12 cobalamin malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin b 12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin b 12 therapy and appears in childhood.
A syrian family is described with three children who had inherited selective vitamin b12 malabsorption associated with proteinuria. The diagnosis of igs was made on the findings of a low vitamin b12 level, mild proteinuria, and a vitamin b12 absorption test unaffected by the intrinsic factor. Enable javascript to view the expandcollapse boxes. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. Imerslundgrasbeck syndrome igs with or without proteinuria is a rare. Absent ileal uptake of ifbound vitamin b12 in vivo in the imerslund grasbeck syndrome familial vitamin b12 malabsorption with proteinuria. Gard po box 8126, gaithersburg, md 208988126 toll free. Imerslund grasbeck syndrome is a condition caused by low levels of vitamin b12 also known as cobalamin. The cubam receptor proteins cubilin and amnionless are both expressed in the small intestine as well as the proximal tubules of the kidney and exhibit an.
Ijms free fulltext imerslundgrasbeck syndrome in an infant. Imerslund grasbeck syndrome igs is a rare syndrome characterized by clinical symptoms and signs of vitamin b 12 deficiency and proteinuria. Imerslundgrasbeck syndrome seleccve vitamin b12 malabsorpon with proteinuria. Imerslundgrasbeck syndrome in a 5yearold iranian boy. Imerslundgrasbeck syndrome genetics home reference nih. We sought to determine whether the ras observed in igs patients is associated with. Ancient founder mutation is responsible for imerslund. Abstract a patient with imerslund syndrome is described. Imerslundgrasbeck syndrome associated with recurrent. Profound vitamin d deficiency in four siblings with imerslund. Vitamin b 12 deficiency is a wellknown cause of recurrent aphthous stomatitis ras.
This receptor is composed of two proteins, amnionless amn, and cubilin. Mutations in the two genes are commonly seen in founder populations or in societies with a. Burman jf, jenkins wj, walkersmith ja, phillips ad, sourial na, williams cb, mollin dl 1985 absent ileal uptake of ifbound vitamin b12 in vivo in the imerslund grasbeck syndrome familial vitamin b12 malabsorption with proteinuria. If you have problems viewing pdf files, download the latest version of adobe reader. The diagnosis of imerslund grasbeck syndrome igs is made after a series of tests are performed. Imerslundgrasbeck syndrome selective vitamin b12 malabsorption with proteinuria. Cubilin, imerslundgrasbeck syndrome, tubular proteinuria, vitamin b12 malabsorption, vitamin d deficiency. J f burman, w j jenkins, j a walkersmith, a d phillips, n a sourial, c b williams, and d l mollin.
For language access assistance, contact the ncats public information officer. Once free, vitamin b12, binds with intrinsic factor if, to produce an. Imerslund, olga definition of imerslund, olga by the. Imerslund grasbeck syndrome igs or selective vitamin b12 cobalamin malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin b12 deficiency commonly. It may refer to malabsorption of one specific nutrient or for specific carbohydrates, fats, or trace elements micronutrients. Pdf imerslundgrasbeck syndrome selective vitamin b12. This is a rare disease, with a prevalence about 1 in 200,000, and is. Absent ileal uptake of ifbound vitamin b12 in vivo in the. Detailed investigations of proximal tubular function in. Igs is caused by mutations in either of the genes encoding the intestinal intrinsic factorvitamin b12 receptor complex, cubam. Imerslundgrasbeck syndrome igs or selective vitamin b12 cobalamin malabsorption with proteinuria is a rare autosomal.
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