Décompensation tardive d'une maladie d'Imerslund-Grasbëck

BackgroundProspective studies on maintenance treatment for Beagles with hereditary selective cobalamin (Cbl) malabsorption (Imerslund‐Gräsbeck syndrome, IGS) are lacking. In our experience, measurement of methylmalonic acid (MMA), a Cbl‐dependent metabolite, seems more helpful to monitor Cbl status as compared with serum Cbl concentrations.ObjectivesTo evaluate a standardized Cbl supplementation scheme in Beagles with IGS. We hypothesized that a single parenteral dose of 1 mg hydroxocobalamin (OH‐Cbl) would maintain clinical and metabolic remission for up to 2 months.AnimalsSix client‐owned juvenile Beagles with genetically confirmed IGS and 28 healthy control dogs.MethodsProspective study. Monthly IM OH‐Cbl (1 mg) supplementation was done over a median of 9 months (range, 6‐13) in 6 dogs, followed by bimonthly (every 2 months) injections in 5 dogs over a median of 6 months (range, 3‐10). Health status was assessed by routine clinical examinations at injection time points and owner observations. Voided urine samples were collected immediately before OH‐Cbl injections for measurement of MMA‐to‐creatinine concentrations using a gas‐liquid chromatography‐tandem mass spectrometry (GC‐MS) method.ResultsAll dogs were clinically healthy while receiving monthly and bimonthly OH‐Cbl supplementation. Urinary MMA results in healthy dogs ranged from 1.3 to 76.5 mmol/mol creatinine (median, 2.9). Median urinary MMA concentrations did not differ between dogs with IGS receiving monthly (n = 49; 5.3 mmol/mol creatinine; range, 2.3‐50.4) and bimonthly (n = 31; 5.3 mmol/mol creatinine; range, 1.6‐50) injections.Conclusions and Clinical ImportanceA maintenance parenteral dose of 1 mg OH‐Cbl monthly or bimonthly appears adequate in Beagles with IGS monitored by metabolic testing.

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Prospective long‐term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund‐Gräsbeck syndrome)

Kook

Reusch

Hersberger

2018

Veterinary Internal Medicne

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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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Décompensation tardive d'une maladie d'Imerslund-Grasbëck

Cited by 2 publications

References 7 publications

Prospective long‐term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund‐Gräsbeck syndrome)

Prospective long‐term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund‐Gräsbeck syndrome)

Síndrome de Imerslund-Gränsbeck: revisión sistemática de casos clínicos

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