Symptoma

Imerslund-Gräsbeck Syndrome

Gräsbeck-Imerslund Disease

Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. Anatomical anomalies in the urinary tract were observed in some Norwegian patients. [orpha.net]

Mild proteinuria (with no signs of kidney disease ) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. [rarediseases.info.nih.gov]

  • Pallor

    The clinical examination and laboratory studies revealed pallor of conjunctiva, megaloblastic anemia with vitamin B12 deficiency (serum vitamin B 12 level IGS was firstly described in 1960 by Olga Imerslund and more than 300 cases have been published [revistanefrologia.com]

    The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal [ghr.nlm.nih.gov]

    Signs and symptoms [ edit ] Defined as those seen in any macrocytic, megaloblastic anemia: [ citation needed ] Anemia : causing fatigue, conjuctival pallor, pale complexion, and in some cases, a mild icterus (yellowing of the eye). [en.wikipedia.org]

  • Progressive Dementia

    Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades. 0001289 Dementia Dementia, progressive Progressive dementia Last updated: 1/6/2014 Testing Resources The Genetic Testing Registry (GTR) [rarediseases.info.nih.gov]

  • Fishing

    […] cases around the world, was postulated as an ancient founder mutation that can trace back to approximately 13,600 years ago. [2] [4] Pathogenesis [ edit ] Vitamin B 12, is an essential water-soluble vitamin found in animal products (such as liver, meat, fish [en.wikipedia.org]

  • Asymptomatic

    Full Text Dear Editor, Imerslund-Grasbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective vitamin B 12 malabsorption and asymptomatic proteinuria. 1 IGS occurs in the first 1-2 years of the [revistanefrologia.com]

  • Failure to Thrive

    Clinical description Other manifestations include failure to thrive and grow, infections and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. [orpha.net]

    Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease ) is present in about half of affected individuals. [rarediseases.info.nih.gov]

  • Suggestibility

    In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency. [orpha.net]

    […] mutations on the CUBN or AMN (genes that encode cubilin and amnionless respectively) have been identified through genetic analysis, and ethnic susceptibility of some of the mutations were indicated from the current research. [2] [3] It has been further suggested [en.wikipedia.org]

  • Spastic Paralysis

    paralysis of the limbs. [en.wikipedia.org]

  • Confusion

    Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. [ghr.nlm.nih.gov]

  • Mean Corpuscular Volume Decreased

    Laboratory findings indicating increased MCV (Mean Corpuscular Volume), decreased Hgb / Hct (indicating anemia), and decreased value of vitamin B 12 in the blood. Proteinuria: protein found in the urine detected by analysis or by dipstick. [en.wikipedia.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Broch et al enrolled 14 patients to a long term follow-up study and exhibited no deterioration in kidney function. 5 Limited numbers of cases have been observed almost 50 years and renal prognosis is excellent. [revistanefrologia.com]

Etiology The cause is a defect in the receptor of the vitamin B12-intrinsic factor complex of the ileal enterocyte. [orpha.net]

Summary Epidemiology The syndrome was first described in Finland and Norway where the prevalence is about 1/200 000. Clinical description Other manifestations include failure to thrive and grow, infections and neurological damage. [orpha.net]

High suspicion should be exercised when a neonate, or a pediatric patient presents with anemia, protein in the urine, sufficient vitamin B 12 dietary intake, and no signs of pernicious anemia. [ citation needed ] Epidemiology [ edit ] This is a rare disease [en.wikipedia.org]

To understand the basic pathophysiology of Imerslund–Gräsbeck syndrome, it is imperative to understand the absorption of vitamin B 12. [en.wikipedia.org]

Mutations in the AMN gene prevent cubilin from attaching to the cells in the small intestine and kidneys. Without cubilin function in the small intestine, vitamin B12 is not taken into the body. [ghr.nlm.nih.gov]

It is at this point that the pathology of IGS syndrome occurs by preventing the absorption of vitamin B 12, and can be caused by a mutation in either the amnionless (AMN) portion or the cubilin portion of the receptor. [1] Diagnosis [ edit ] This section [en.wikipedia.org]