Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease

Demirkol, Demet; Şık, Güntülü; Topal, N.; Çıtak, Agop; Aktuğlu-Zeybek, Çiğdem; Tüten, Abdülhamit; Bilge, İlmay

doi:10.1159/000443783

Cited by 13 publications

(23 citation statements)

References 24 publications

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“…La CVVHDF es más segura y efectiva; se estima en una media de 20 ± 8 horas el tiempo en que se logran alcanzar adecuados niveles de leucina. 10,11 En muchos centros, la CVVHDF no es una práctica disponible. Ante esta situación, la DP es una opción que debe considerarse para intentar acortar la exposición del sistema nervioso a los metabolitos tóxicos.…”

Section: Discussionunclassified

Diálisis peritoneal en un neonato con enfermedad de la orina con olor a jarabe de arce. A propósito de un caso

2020

Arch Argent Pediat

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Presentación de casos clínicos RESUMEN La enfermedad de jarabe de arce es una entidad autosómica recesiva producida por un error congénito en el metabolismo de tres aminoácidos esenciales de cadena ramificada: valina, leucina e isoleucina. La forma neonatal de esta enfermedad se manifiesta por un cuadro de compromiso neurológico grave y progresivo, asociado a un olor peculiar de la orina, consecuencia de la eliminación del exceso de estos aminoácidos. Este olor a azúcar quemada remeda a la melaza obtenida de los arces, lo que da nombre a esta enfermedad. El mejor método para eliminar estos tóxicos es la hemodiafiltración, pero, en los centros en los que esta práctica no es posible, la diálisis peritoneal constituye una alternativa. Se presenta a un recién nacido con leucinosis, con compromiso grave del sistema nervioso central, en quien la diálisis peritoneal fue de utilidad para superar la descompensación metabólica.

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Section: Discussionunclassified

Diálisis peritoneal en un neonato con enfermedad de la orina con olor a jarabe de arce. A propósito de un caso

2020

Arch Argent Pediat

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“…10 Os valores normais de leucina sérica variam entre 80 e 200 µmol/L. 7 Valores de leucina superiores a 1000 µmol/L de forma sistemática relacionam-se com desenvolvimento intelectual negativo. A depuração exógena torna-se primordial na presença de clínica neurológica grave, deterioração clí-nica, valores de leucina superiores a 1500 µmol/L e/ou falência do tratamento nutricional.…”

Section: Discussionunclassified

“…4 Esta técnica tem sido utilizada em casos de doença renal aguda, sépsis e intoxicações e, mais recentemente, no tratamento da descompensação aguda nos EIM, em adultos e em grupos etários pediátricos. [5][6][7][8][9] Existem alguns riscos acrescidos em recém-nascidos (RN), nomeadamente a possibilidade de repercussão hemodinâmica e hipotermia pela quantidade de sangue no circuito extracorporal. No entanto, tem sido cada vez mais utilizada neste grupo etário.…”

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Hemodiafiltração venovenosa contínua nas descompensações graves de doenças metabólicas

Almeida

Abecasis

Gaspar

et al. 2017

Acta Pediátrica Port

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Introduction: Continuous venovenous haemodiafiltration is an extracorporeal blood purification technique that can be used in the treatment of metabolic diseases. The aim of this study was to evaluate its effectiveness and complications in the treatment of metabolic decompensation in patients with inborn errors of metabolism. Methods: Cases in which heaemodiafiltration was used in a paediatric intensive care unit over 10 years were reviewed. Results: We performed 18 sessions of continuous venovenous haemodiafiltration in 15 patients (10 with maple syrup urine disease, five with hyperammonaemia); 11 of the sessions were in newborns. The technique was initiated because of severe metabolic decompensation with neurological signs in 10/18 cases, within the first six hours of hospitalization. The median technique duration was 18 hours. There was a significant reduction in levels of leucine (1940 µmol/l to 400 µmol/l) and ammonia values (1433 µmol/l to 255 µmol/l) (p ≤ 0.01). In three cases, haemodiafiltration was suspended because of serious bleeding complications. Three types of vascular access (jugular, femoral and umbilical) were used. Jugular access resulted in longer filter life (p = 0.002). The mean length of hospital stay was 4.9 days; patients required invasive ventilation in 13 episodes. The survival rate was 66.7%. Discussion: The success of continuous venovenous haemodiafiltration in the treatment of acute metabolic decompensation is reported. The technique was very effective in reducing toxic metabolites, but the complexity of these patients and the possibility of fatal complications demonstrates the need for careful patient selection and experience in implementation. Jugular access appears to be best for this technique.

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“…При развитии гипонатриемического отека головного мозга следует вводить гипертонические солевые растворы, маннит и фуросемид [37]. В редких случаях для удаления аминокислот с разветвленной цепью и кетокислот могут потребоваться гемодиализ или перитонеальный диализ [38][39][40].…”

Section: лечениеunclassified

Leucinosis, or maple syrup urine disease (lecture and a clinical case)

et al. 2020

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Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branchedchain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branchedchain alpha ketoacid dehydrogenase complex. There are five subtypes of the disease: classical, intermediate, intermittent, thiamine-dependent and E3-deficient. Leucinosis is characterized by high plasma levels of branched-chain amino acids (leucine, isoleucine and valine) and high urine levels of branched-chain ketoacids, as well as of lactate and pyruvate. Tandem mass spectrometry can be used as a screening method in newborns. Mild disease cannot be identified at screening. The diagnosis should be based on tandem mass spectrometry of a blood sample and aminoacid analysis by gas chromatography of a urine sample. Prenatal diagnosis requires molecular genetic tests. Treatment of maple syrup urine disease is aimed at normalization of plasma branchedchain amino acids levels and includes two main components, namely, life-long diet therapy and active treatment of acute metabolic deterioration episodes. A favorable course of the disease is possible only with early (pre-symptomatic) initiation of treatment. The development of cognitive functions depends on plasma leucine levels. We present a clinical case of delayed diagnosis of leucinosis, despite its early clinical manifestation, leading to irreversible consequences for the patient.

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Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease

Cited by 13 publications

References 24 publications

Diálisis peritoneal en un neonato con enfermedad de la orina con olor a jarabe de arce. A propósito de un caso

Diálisis peritoneal en un neonato con enfermedad de la orina con olor a jarabe de arce. A propósito de un caso

Hemodiafiltração venovenosa contínua nas descompensações graves de doenças metabólicas

Leucinosis, or maple syrup urine disease (lecture and a clinical case)

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