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Introducción: los bebés deben beneficiarse de la leche materna, incluso cuando presentan intolerancia a la lactosa. Por esto, se debe recurrir a la obtención de leche materna deslactosada. Objetivo: analizar el efecto de la enzima beta galactosidasa en la hidrólisis de la lactosa de leche materna madura para bebés clínicamente diagnosticados con intolerancia a la lactosa. Materiales y método: estudio exploratorio, descriptivo y explicativo. El contenido de lactosa se cuantificó desde el inicio hasta el final del tratamiento, controlando temperatura, tiempos y cantidad de enzima ß-galactosidasa adicionada en la leche materna. Se recolectaron 1000 ml de leche materna, obtenidos del Banco de Leche del Hospital General de Medellín (Antioquia, Colombia). Resultados: las muestras donadas se encontraban pasteurizadas y posteriormente fueron sometidas a la acción de la enzima lactasa. Se cuantificó el contenido de lactosa sin la enzima, reportando en promedio 6,34 mg/100 ml ± 0,23. El mayor aporte de lactosa obtenido posterior a la exposición a la enzima (30 minutos) fue de 6,07 mg/ml ± 0,35 (correspondiente a 95 % del contenido inicial), finalizando con un aporte de 0,35 % a una concentración de 0,4 % tras 24 horas, porcentaje que representa 95 % de la hidrólisis total en la leche materna. Conclusiones: en todas las muestras analizadas de diferentes madres se pudo obtener leche materna con bajas concentraciones de lactosa tras 24 horas de haber sido sometidas a la acción de ß-galactosidasa. Lo anterior se establece como una alternativa para los bebés intolerantes a la lactosa, que permitiría no privarlos de todos los beneficios que ofrece este alimento.

Introduction: Babies should benefit from breast milk, even when they are lactose intolerant. For this reason, parents should resort to obtaining lactose-free breast milk. Objective: To examine the effect of the enzyme ß-galactosidase on the hydrolysis of lactose in mature breast milk for babies clinically diagnosed with lactose intolerance. Materials and method: Exploratory, descriptive, and explanatory study. The lactose content was quantified from the beginning to the end of the treatment, controlling variables such as temperature, times, and the amount of ß-galactosidase enzyme added in breast milk. A total of 1000 ml of breast milk were obtained from the milk bank at Hospital General de Medellín (Antioquia, Colombia). Results: Donated samples were first pasteurized and subsequently subjected to the action of the enzyme lactase. The lactose content without the enzyme was quantified, reporting an average of 6.34 mg/100 mL±0.23. The highest contribution of lactose obtained after exposure to the enzyme was 6.07 mg/mL±0.35 (corresponding to 95% of the initial content), at 30 minutes, ending with a contribution of 0.35% at a concentration of 0.4% in 24 hours, percentage that represents 95% of total hydrolysis in breast milk. Conclusions: In all the examined samples from different mothers, it was possible to obtain breast milk with low concentrations of lactose 24 hours after these were exposed to the action of ß-galactosidase. This becomes an alternative for feeding lactose intolerant babies and not deprive them from all the benefits offered by breast milk.

Introdução: os bebês se devem beneficiar do leite materno, mesmo quando tenham intolerância à lactose, razão pela qual se deve recorrer à obtenção de leite materno sem lactose. Objetivo: analisar o efeito da enzima beta-galactosidase na hidrólise da lactose no leite materno maduro para bebês diagnosticados clinicamente com intolerância à lactose. Materiais e método: estudo exploratório, descritivo, explicativo. O teor de lactose foi quantificado do início ao fim do tratamento; temperatura, tempos e quantidade de enzima beta-galactosidase adicionada no leite materno foram controlados; foram coletados 1000ml de leite materno, obtidos no Banco de Leite do Hospital General de Medellín (Antioquia, Colômbia). VResultados: as amostras doadas foram pasteurizadas e posteriormente submetidas à ação da enzima lactase. O teor de lactose sem a enzima foi quantificado, relatando uma média de 6,34mg/100ml±0,23. A maior contribuição de lactose obtida após a exposição à enzima foi de 6,07mg/ml±0,35 (correspondendo a 95% do conteúdo inicial) em 30 minutos, finalizando com uma contribuição de 0,35% na concentração de 0,4% em 24 horas, percentual que representa 95% da hidrólise total no leite materno. Conclusões: em todas as amostras analisadas de diferentes mães, foi possível obter leite materno com baixas concentrações de lactose 24 horas após ser submetido à ação da beta galactosidase, como alternativa para bebês intolerantes à lactose e não os privar de todos os outros benefícios oferecidos por esse alimento ideal.

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Objetivo. Se describe el caso de un paciente masculino de siete meses de edad, evaluado por cardiología a los quince días de vida por antecedente de muerte súbita cardíaca de hermana a los cuatro meses, no se sospechó nada pese a consanguinidad de padres y diagnóstico temprano del paciente de cardiomiopatía. Evoluciona con un cuadro clínico de infecciones respiratorias a repetición desde los tres meses (bronquiolitis recurrente), falla de medro y cuadro de neumonía reciente y fallece a los ocho días de la consulta con la genetista. Métodos. El abordaje inicial fue la realización de un ecocardiograma a los quince días de nacido por antecedente de muerte súbita de hermana a los cuatro meses por cardiomegalia y consanguinidad de los padres. Continúa con deterioro clínico a través de los meses por lo que se remite a genética, se toman pruebas enzimáticas en gota de sangre seca, el paciente fallece antes de recibir el diagnóstico de Enfermedad de Pompe. Resultados. Se enfocó al paciente con un posible diagnóstico de Enfermedad de Pompe solicitándose enzima lisosomal alfa-glucosidasa (GAA) en muestra de gota de sangre seca y reporte final de la secuenciación genética.

Objective. It is a case of a seven months male patient, evaluated by cardiology fifteen days after he was born secondary, to sudden cardiac death of his sister of four months, nothing suspicious despite consanguinity of parents and early diagnosis of the patient with Cardiomyopathy. Evolved with the following clinical conditions recurrent respiratory infections from three months (recurrent bronchiolitis), widespread malnutrition and recent pneumonia. Died eight days after the consultation with the geneticist. Methods. The initial approach was to perform echocardiogram at fifteen days old, because of history of the sudden death of his sister of four months, cardiomegaly and parental consanguinity. Clinical deterioration continues through months so he is referred to genetic, enzymatic tests, taken in dried blood, the patient dies before receiving the diagnosis of Pompe disease. Results. The patient was focused with a possible diagnosis ofPompe Disease so lysosomal enzyme α-glucosidase (GAA) sample was requested in dried blood and genetic sequencing final report to define diagnosis.

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The C/T-13910 mutation is the major factor responsible for the persistence of the lactase-phlorizin hydrolase (LCT) gene expression. Mutation G/A-22018 appears to be only in co-segregation with C/T-13910. The objective of the present study was to assess the presence of these two mutations in Brazilian individuals with and without lactose malabsorption diagnosed by the hydrogen breath test (HBT). Ten milk-tolerant and 10 milk-intolerant individuals underwent the HBT after oral ingestion of 50 g lactose (equivalent to 1 L of milk). Analyses for C/T-13910 and G/A-22018 mutations were performed using a PCR-based method. Primers were designed for this study based on the GenBank sequence. The CT/GA, CT/AA, and TT/AA genotypes (lactase persistence) were found in 10 individuals with negative HBT. The CC/GG genotype (lactase non-persistence) was found in 10 individuals, 9 of them with positive HBT results. There was a significant agreement between the presence of mutations in the LCT gene promoter and HBT results (kappa = -0.9, P < 0.001). The CT/AA genotype has not been described previously and seems to be related to lactase persistence. The present study showed a significant agreement between the occurrence of mutations G/A-22018 and C/T-13910 and lactose absorption in Brazilian subjects, suggesting that the molecular test used here could be proposed for the laboratory diagnosis of adult-type primary hypolactasia.

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The C/T-13910 mutation is the major factor responsible for the persistence of the lactase-phlorizin hydrolase (LCT) gene expression. Mutation G/A-22018 appears to be only in co-segregation with C/T-13910. The objective of the present study was to assess the presence of these two mutations in Brazilian individuals with and without lactose malabsorption diagnosed by the hydrogen breath test (HBT). Ten milk-tolerant and 10 milk-intolerant individuals underwent the HBT after oral ingestion of 50 g lactose (equivalent to 1 L of milk). Analyses for C/T-13910 and G/A-22018 mutations were performed using a PCR-based method. Primers were designed for this study based on the GenBank sequence. The CT/GA, CT/AA, and TT/AA genotypes (lactase persistence) were found in 10 individuals with negative HBT. The CC/GG genotype (lactase non-persistence) was found in 10 individuals, 9 of them with positive HBT results. There was a significant agreement between the presence of mutations in the LCT gene promoter and HBT results (kappa = -0.9, P < 0.001). The CT/AA genotype has not been described previously and seems to be related to lactase persistence. The present study showed a significant agreement between the occurrence of mutations G/A-22018 and C/T-13910 and lactose absorption in Brazilian subjects, suggesting that the molecular test used here could be proposed for the laboratory diagnosis of adult-type primary hypolactasia.

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BACKGROUND: Irritable bowel syndrome (IBS) is a symptom-based disorder characterized by abdominal pain related to altered bowel habit. We evaluated the predictive power of 2 genetic markers of hypolactasia, C/T_13910 and G/A_22018, in IBS patients with and without lactose intolerance in order to gain insight into the role of lactose intolerance in IBS. METHODS: Seventy five patients (59F/16M, mean age: 49.6+/-14.2 years) with an IBS diagnosis based on Rome II criteria and 272 healthy individuals, where 74 (58F/16M, 54.1+/-10.9 years) were matched-controls, were evaluated. IBS and healthy individuals were genotyped for the C/T_13910 and G/A_22018 polymorphisms nearby the lactase-phlorizin hydrolase gene. Hydrogen breath test (HBT) with gas chromatography was performed in IBS patients to assess for lactose intolerance. RESULTS: Of the 75 IBS patients, 28 (37%) were defined as lactose intolerants. The grade/severity of symptoms after an oral lactose load were positively correlated to the expiratory H2 excretion (P<0.001). Alleles and genotypes frequencies from C/T_13910 and G/A_22018 were not significantly different between IBS patients and control individuals (P>0.05;NS). Presence of the C and G allele were positively associated with a higher expiratory hydrogen excretion and more intense gastrointestinal symptoms (P<0.001). Considering these polymorphisms as a diagnostic test for lactose intolerance in IBS patients, presence of the CC and GG genotypes were estimated to have, a sensitivity of 100% and 96%, respectively; and a specificity of 83% and 79%, positive predictive value of 76% and 73%, and negative predictive value of 100% and 97%. CONCLUSIONS: In IBS patients, genotyping of C/T_13910 and G/A_22018 polymorphisms predicts gastrointestinal symptoms after lactose ingestion and are a diagnostic tool for lactose intolerance.

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La enfermedad de Gaucher es una deficiencia de glucocerebrosidasa (GC) con acumulación de glucocerebrósidos en el sistema macrofágico, y da lugar a tres formas clínicas diferentes. De ellas, el tipo 1 se caracteriza por infiltración del bazo, hígado y médula ósea e incluye además alteraciones esqueléticas, evidenciadas por dolor óseo, osteopenia y fracturas. Se trataron dos niñas con GC disponible comercialmente, usando dosis bimensuales entre 30 y 60 U/Kg. En ambas pudo observarse tendencia a la normalización de la hemoglobina y fosfatasa ácida sérica, y en la más afectada menor hepatomegalia y desaparición de los síntomas esquelético. Un episódio de anafilaxia observado en esta misma enferma cedió rápidamente, y pudo continuar el tratamiento sin que ocurriera disminución de la respuesta. Los resultados coincidentes con la experiencia mundial, confirman que el tratamiento con GC es racional y efectivo en la enfermedad de Gaucher tipo I. La tolerancia es buena y no se describen fenómenos de resistencia. La modalidad de respuesta es variable, pero todos los enfermos responden y al cabo de un tiempo se puede disminuir lentamente la dosis. Aun así, el precio de la enzima impone una precisa definición de las indicaciones en función de una óptima relación conto-beneficio

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La enfermedad de Gaucher es una deficiencia de glucocerebrosidasa (GC) con acumulación de glucocerebrósidos en el sistema macrofágico, y da lugar a tres formas clínicas diferentes. De ellas, el tipo 1 se caracteriza por infiltración del bazo, hígado y médula ósea e incluye además alteraciones esqueléticas, evidenciadas por dolor óseo, osteopenia y fracturas. Se trataron dos niñas con GC disponible comercialmente, usando dosis bimensuales entre 30 y 60 U/Kg. En ambas pudo observarse tendencia a la normalización de la hemoglobina y fosfatasa ácida sérica, y en la más afectada menor hepatomegalia y desaparición de los síntomas esquelético. Un episódio de anafilaxia observado en esta misma enferma cedió rápidamente, y pudo continuar el tratamiento sin que ocurriera disminución de la respuesta. Los resultados coincidentes con la experiencia mundial, confirman que el tratamiento con GC es racional y efectivo en la enfermedad de Gaucher tipo I. La tolerancia es buena y no se describen fenómenos de resistencia. La modalidad de respuesta es variable, pero todos los enfermos responden y al cabo de un tiempo se puede disminuir lentamente la dosis. Aun así, el precio de la enzima impone una precisa definición de las indicaciones en función de una óptima relación conto-beneficio (AU)

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E descrito um caso de doença de Gaucher do adulto e apresentada revisäo sobre aspectos fisiopatológicos, quadro clínico, diagnóstico e terapêutica

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