Síndrome de Imerslund-Gräsbeck: anemia megaloblástica con proteinuria

López, Cristina Aparicio; Collantes, Carmen de Lucas; Jimenez, Fernando Ramirez; Martin, PY

doi:10.1016/j.anpedi.2013.05.034

Cited by 2 publications

(1 citation statement)

References 7 publications

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“…IGS is a rare autosomal-recessive genetic disease characterized by poor absorption of Cbl within the intestine [ 15 , 16 ]. Hereditary malabsorption of Cbl has been reported to involve three genes: variants of cubilin ( CUBN ) and/or AMN lead to IGS, and GIF variants lead to intrinsic factor deficiency (IFD).…”

Section: Discussionmentioning

confidence: 99%

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

Chen

Lin

et al. 2020

BMC Med Genet

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Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood and urine. Often, combined methylmalonic acidemia (MMA) and homocysteinemia is misdiagnosed due to a lack of specific symptoms. The clinical manifestations are diverse, but proteinuria as the initial presentation is rare. Case presentation Two cases of MMA with homocysteinemia in children are reported. Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively). Screening of amino acids and acyl carnitine in serum showed that the propionyl carnitine:acetylcarnitine ratio increased. Profiling of urinary organic acids by gas chromatography–mass spectrometry revealed high levels of methylmalonic acid. Homocysteine content in blood was increased. Comprehensive genetic analyses of peripheral blood-derived DNA demonstrated heterozygous variants of methylmalonic aciduria type C and homocystinuria (MMACHC) and amnionless (AMN) genes in our two patients, respectively. After active treatment, the clinical manifestations in Case 1 were relieved and urinary protein ceased to be observed; Case 2 had persistent proteinuria and was lost to follow-up. Conclusions Analyses of the organic acids in blood and urine suggested MMA combined with homocysteinemia. In such diseases, reports of renal damage are uncommon and proteinuria as the initial presentation is rare. Molecular analysis indicated two different genetic causes. Although the pathologic mechanisms were related to vitamin B12, the severity and prognosis of renal lesions were different. Therefore, gene detection provides new insights into inherited metabolic diseases.

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Section: Discussionmentioning

confidence: 99%

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

Chen

Lin

et al. 2020

BMC Med Genet

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Síndrome de Imerslund-Gränsbeck: revisión sistemática de casos clínicos

Rodríguez

Lozano

Triana

et al. 2022

CES Med

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Introducción: el Síndrome de Imerslund-Gränsbeck es un trastorno congénito inusual que cursa con disminución de la Vitamina B12, anemia megaloblástica y proteinuria sin afección renal que cual se produce por una mutación de los cromosomas 10 y 14, que condicionan un defecto en el receptor del complejo vitamina B12-factor intrínseco del enterocito ileal. Fue descrita por Olga Imerslund y Armas Gransbeck. Objetivo: caracterizar a la población que ha padecido el Síndrome de Imerslund-Gränsbeck. Metodología: revisión sistemática de la literatura de casos clínicos. Resultados: se incluyeron 68 casos, en la mayoría de los casos el diagnostico en los primeros 10 años de vida, en el que se evidenció una mayor frecuencia en mujeres, y se encontró asociado con antecedentes familiares como consanguinidad entre padres (14,6%). La manifestación más frecuente fue palidez (20,9%), seguido de vomito (10,5%) y anorexia (9,8%). La anemia megaloblástica (66,2%) fue el hallazgo más frecuente y el tratamiento se dio con cianocobalamina (intramuscular u oral) para regular las concentraciones plasmáticas de esta vitamina. Conclusión: el Síndrome de Imerslund Gränsbeck tiene una baja prevalencia y se presenta con mayor frecuencia en el continente europeo, tiene predilección por el sexo femenino y se caracteriza por una disminución de la vitamina B12 que pueden que puede predisponer a otras alteraciones como ataxia y retraso en el crecimiento.

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Síndrome de Imerslund-Gräsbeck: anemia megaloblástica con proteinuria

Cited by 2 publications

References 7 publications

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

Síndrome de Imerslund-Gränsbeck: revisión sistemática de casos clínicos

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