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1.
J Clin Immunol ; 43(1): 123-135, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36044171

RESUMEN

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated Mycobacterium bovis-Bacillus Calmette-Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were enrolled: 14 males (64%) and eight females. After BCG vaccination, 12 patients (70%) developed BCG infection. Furthermore, 6 (22%) patients developed bacterial infections mainly caused by Salmonella, as what is described next in the text is fungal infections, particularly Histoplasma. Seven patients died of disseminated BCG disease. Thirteen different pathogenic variants were identified in IL12RB1 (n = 13), IFNGR1 (n = 3), and IFNGR2 (n = 1) genes. Interleukin-12Rß1 deficiency is the leading cause of MSMD in our cohort. Morbidity and mortality were primarily due to BCG infection.


Asunto(s)
Infecciones por Mycobacterium , Mycobacterium bovis , Masculino , Femenino , Humanos , Estudios Retrospectivos , Vacuna BCG , Predisposición Genética a la Enfermedad , México/epidemiología , Receptores de Interleucina-12/genética , Infecciones por Mycobacterium/epidemiología , Infecciones por Mycobacterium/genética
2.
BMC Pulm Med ; 17(1): 206, 2017 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-29246256

RESUMEN

BACKGROUND: Patients with cystic fibrosis (CF) have airway inflammation that contributes to symptoms and to pulmonary function derangement. Current drugs used to diminish airway inflammation improve the clinical and spirometric status of patients with CF, but their use is limited due to their undesired side effects, for example, glucose intolerance, growth retardation, and cataracts with corticosteroids, gastrointestinal toxicity with ibuprofen, and macrolide resistance with azythromycin. Glycine is known to decrease activation of inflammatory cells, including alveolar macrophages and neutrophils, and is relatively inexpensive, palatable, and virtually devoid of untoward effects. These features make glycine a good candidate for antiinflammatory treatment of CF. Thus, we aimed to explore whether glycine can exert a beneficial effect in a population of patients with CF. METHODS: This was a randomized, double blinded, cross-over pilot clinical trial. Subjects with CF received, in random order, oral glycine (0.5 g/kg/day, dissolved in any liquid) and placebo (glass sugar), each during 8 weeks with an intermediate 2-week wash-out period. RESULTS: Thirteen subjects aged 6-23 years, 8 females, completed the two arms of the study. As compared with placebo, after glycine intake patients had better symptom questionnaire scores (p = 0.02), mainly regarding sputum features and dyspnea. While spirometric variables tended to decline during placebo intake, they remained stable or even increased during glycine treatment (p = 0.04 to p = 0.003). In this context, FEV1 declined 8.6% after placebo and increased 9.7% at the end of the glycine period. Pulse oximetry improved after glycine intake (p = 0.04 vs. placebo). TNF-α in serum and IL-6 and G-CSF in sputum tended to decline at the end of the glycine period (p = 0.061, p = 0.068 and p = 0.04, respectively, vs placebo). Glycine was remarkably well tolerated. CONCLUSIONS: The clinical, spirometric and inflammatory status of subjects with CF improved after just 8 weeks of glycine intake, suggesting that this amino acid might constitute a novel therapeutic tool for these patients. Thus, further studies are warranted. TRIAL REGISTRATION: www.clinicaltrials.gov , registration number: NCT01417481 , date of registration: March 12, 2012.


Asunto(s)
Antiinflamatorios/farmacología , Fibrosis Quística/tratamiento farmacológico , Fibrosis Quística/fisiopatología , Glicina/farmacología , Pulmón/fisiopatología , Administración Oral , Adolescente , Antiinflamatorios/administración & dosificación , Biomarcadores/sangre , Niño , Estudios Cruzados , Método Doble Ciego , Femenino , Volumen Espiratorio Forzado , Glicina/administración & dosificación , Humanos , Inflamación/tratamiento farmacológico , Pulmón/efectos de los fármacos , Masculino , Neutrófilos/efectos de los fármacos , Proyectos Piloto , Espirometría , Adulto Joven
3.
Clin Infect Dis ; 58(2): 204-13, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24186907

RESUMEN

BACKGROUND: Interleukin 12Rß1 (IL-12Rß1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12-dependent interferon γ production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23-dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12Rß1 deficiency. RESULTS: Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age±standard deviation, 1.5 ± 7.87 years) than infections with environmental mycobacteria (4.29 ± 11.9 years), Mycobacterium tuberculosis (4 ± 3.12 years), or Salmonella species (4.58 ± 4.17 years) or other rare infections (3 ± 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guérin. CONCLUSIONS: Patients who are deficient in IL-12Rß1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients.


Asunto(s)
Candidiasis/inmunología , Candidiasis/patología , Sudunidad beta 1 del Receptor de Interleucina-12/deficiencia , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Evaluación del Resultado de la Atención al Paciente , Recurrencia
4.
Arch Med Res ; 53(6): 641-642, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-36123225

RESUMEN

Pseudomonas aeruginosa is a significant cause of lung infections in patients with cystic fibrosis (CF). Pseudomonas produces a chronic infection that increases the morbidity and mortality in affected individuals. The rapid identification of Pseudomonas in these individuals enables conventional antimicrobial treatment to be started. However, over the years, treatment of P. aeruginosa has become problematic and very challenging due to their intrinsic and acquired antibiotic resistance. Microbiology plays an essential role in determining the antimicrobial susceptibility/resistance profiles of isolated strains, helping to optimize antimicrobial treatment for affected patients. In addition to the conventional susceptibility analysis, whole genome sequencing has emerged as a powerful tool for determining specific genomic variants, both in specific geographic areas and globally. Thus, molecular epidemiologic surveillance could help to establish a better treatment strategy and counter the spread of high-risk, P. aeruginosa variants among CF individuals.


Asunto(s)
Fibrosis Quística , Infecciones por Pseudomonas , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Niño , Fibrosis Quística/complicaciones , Fibrosis Quística/genética , Genómica , Humanos , Infecciones por Pseudomonas/tratamiento farmacológico , Infecciones por Pseudomonas/microbiología , Pseudomonas aeruginosa/genética
5.
Arch Med Res ; 52(4): 357-361, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33309309

RESUMEN

Cystic fibrosis (CF) is a progressive autosomal recessive genetic disease that principally affects the respiratory and digestive systems. It is a chronic disease that has no cure. Symptoms often include chronic cough, lung infections, and shortness of breath. Children with cystic fibrosis present failure to thrive as manifested by low weight and height for age. CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (cftr) gene that codes for a cell membrane protein of epithelial tissues and affects multiple organ systems in the human body. Mutations on the CFTR causes dysfunctional electrolyte regulation affecting intracellular water content. Defective CFTR function in airways produce a dehydrated and sticky mucus that leads the establishment of bacterial chronic infection that ultimate decrease the lung function. During the first decade of life, affected individuals are colonized principally by non typable Haemophilus influenzae and Staphylococcus aureus. During the second decade, Pseudomonas aeruginosa becomes the most dominant pathogen and persists throughout the remainder of their lives. In this work, we describe the mechanisms used by P. aeruginosa to adapt and persist in lungs of individuals with cystic fibrosis.


Asunto(s)
Fibrosis Quística , Infecciones por Pseudomonas , Pseudomonas aeruginosa , Fibrosis Quística/genética , Humanos , Pulmón
6.
Front Cell Infect Microbiol ; 11: 760922, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34692569

RESUMEN

Cystic fibrosis (CF) is a genetic disease affecting more than 70,000 people worldwide. It is caused by a mutation in the cftr gene, a chloride ion transporter localized in the plasma membrane of lung epithelial cells and other organs. The loss of CFTR function alters chloride, bicarbonate, and water transport through the plasma membrane, promoting the production of a thick and sticky mucus in which bacteria including Pseudomonas aeruginosa and Burkholderia cenocepacia can produce chronic infections that eventually decrease the lung function and increase the risk of mortality. Autophagy is a well-conserved lysosomal degradation pathway that mediates pathogen clearance and plays an important role in the control of bacterial infections. In this mini-review, we describe the principal strategies used by P. aeruginosa and B. cenocepacia to survive and avoid microbicidal mechanisms within the autophagic pathway leading to the establishment of chronic inflammatory immune responses that gradually compromise the lung function and the life of CF patients.


Asunto(s)
Burkholderia cenocepacia , Fibrosis Quística , Infecciones por Pseudomonas , Autofagia , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Humanos , Pseudomonas aeruginosa
7.
Diagn Microbiol Infect Dis ; 101(1): 115454, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34271235

RESUMEN

The emergence of high-risk clones of priority pathogens exhibiting convergence of antimicrobial resistance and virulence is a critical issue worldwide. In a previous study, an extensively drug-resistant Pseudomonas aeruginosa was isolated from a chronically colonized pediatric patient with cystic fibrosis (CF). In this study, we analyzed genomic data of this strain (CF023-Psa42), extracting clinically and epidemiologically relevant information (i.e., the antimicrobial resistome, virulome, and sequence type). In this regard, we report the emergence of GES-19 (extended-spectrum ß-lactamase)-producing P. aeruginosa with genotype exoU+. The CF023-Psa42 strain exhibited a broad resistome, belonging to the international high-risk clone sequence type ST235. The blaGES-19 gene was located on a class 1 integron, along to aac(6')-33, aac(6')-Ib-cr, blaOXA-2, aadA1, sul1, and qacEΔ1 resistance genes. Relevant virulence genes such as lasA (proteolysis and elastolysis), toxA (exotoxin A), alg (alginate biosynthesis operon), and exoU (toxin of type III secretion systems) were predicted. Our findings reveal the convergence of broad resistome and virulome in P. aeruginosa ST235. Genomic surveillance is essential to monitor the emergence and dissemination of priority pathogens with epidemiological success.


Asunto(s)
Fibrosis Quística/microbiología , Infecciones por Pseudomonas/microbiología , Pseudomonas aeruginosa/aislamiento & purificación , beta-Lactamasas/metabolismo , Antibacterianos , Proteínas Bacterianas/genética , Proteínas Bacterianas/metabolismo , Niño , Farmacorresistencia Bacteriana Múltiple/efectos de los fármacos , Farmacorresistencia Bacteriana Múltiple/genética , Femenino , Genoma Bacteriano/genética , Genotipo , Humanos , Integrones/genética , Pruebas de Sensibilidad Microbiana , Pseudomonas aeruginosa/efectos de los fármacos , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/patogenicidad , Virulencia/genética , beta-Lactamasas/genética
8.
Pediatr Infect Dis J ; 39(10): 899-906, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32453200

RESUMEN

BACKGROUND: Long-term persistence of Pseudomonas aeruginosa in the lung of individuals with cystic fibrosis (CF) is associated with progressive selection of diverse genotypes and phenotypes. This bacterial adaptation leads to chronic infection and increased morbidity and mortality. The aim of this study was to establish the prevalence, clonal relatedness, antimicrobial susceptibility and virulence-associated phenotypes of P. aeruginosa isolates in a cohort of 50 Mexican children with CF-associated chronic lung infection. METHODS: Clonal relatedness of P. aeruginosa isolates was verified by pulsed-field gel electrophoresis. The antimicrobial susceptibility was determined by an automated system that performs bacterial identificación and antibiotic susceptibility testing (VITEK 2) and/or broth microdilution method. Biofilm formation was quantified with the crystal violet method; swarming motility was measured on soft agar, and susceptibility to normal human serum determined by reduction of colony formed units (CFUs). RESULTS: High prevalence of P. aeruginosa colonization among Mexican children with CF was confirmed; 20% (10/49) of clones identified showed a multidrug-resistant phenotype and 8.2% (4/49) an extensive drug resistance phenotype; 26.5% (13/49) of the isolates were resistant to colistin, 42.9% (21/49) presented a phenotype of adaptation associated with chronic infection and 79.6% (39/49) showed increased ability to survive in normal human serum. CONCLUSIONS: This cohort of children with CF reveals that colonizing P. aeruginosa strains predominantly display resistance to several first-line antibiotics, although most isolates were susceptible to meropenem and tobramycin; 42.9% of isolates showed a phenotype consistent with adaptation to chronic lung infection.


Asunto(s)
Fibrosis Quística/complicaciones , Fibrosis Quística/microbiología , Fenotipo , Infecciones por Pseudomonas/microbiología , Pseudomonas aeruginosa/genética , Adolescente , Antibacterianos/farmacología , Niño , Preescolar , Enfermedad Crónica , Estudios de Cohortes , Electroforesis en Gel de Campo Pulsado , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , México/epidemiología , Pruebas de Sensibilidad Microbiana , Prevalencia , Infecciones por Pseudomonas/epidemiología , Pseudomonas aeruginosa/efectos de los fármacos , Pseudomonas aeruginosa/aislamiento & purificación , Pseudomonas aeruginosa/patogenicidad , Esputo/microbiología , Virulencia
9.
Front Immunol ; 9: 2956, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30627128

RESUMEN

Candida albicans is a commensal fungus that can cause disease ranging in severity from moderate to severe mucosal infections to more serious life-threating disseminated infections in severely immunocompromised hosts. Chronic mucocutaneous candidiasis (CMC) occurs in patients with mutations in genes affecting IL-17-mediated immunity, such as STAT3, AIRE, RORC, CARD9, IL12B, and IL12RB1, or gain of function (GOF) mutations in STAT1. New strategies for the treatment of candidiasis are needed because of the increased burden of infections and the emergence of drug-resistant strains. In this study, we investigated an aspect of the role of antibodies in the control of C. albicans infection. We tested in vitro the effects of C. albicans opsonization with commercial human polyvalent intravenous IgG (IV IgG) on NADPH oxidase activity and killing of the fungi by blood leukocytes from 11 healthy donors and found a significant enhancement in both phenomena that was improved by IV IgG opsonization. Then, we hypothesized that the opsonization of Candida in vivo could help its elimination by mucosal phagocytes in human patients with mucocutaneous candidiasis. We tested a novel adjunctive treatment for oral candidiasis in humans based on topical treatment with IV IgG. For this purpose, we choose two pediatric patients with well-characterized primary immunodeficiencies who are susceptible to CMC. Two 8-year-old female patients with an autosomal recessive mutation in the IL12RB1 gene (P1, with oral candidiasis) and a GOF mutation in STAT1 (P2, with severe CMC persistent since the age of 8 months and resistant to pharmacological treatments) were treated with IV IgG administered daily three times a day as a mouthwash over the course of 2 weeks. The treatment with the IV IgG mouthwash reduced C. albicans mouth infection by 98 and 70% in P1 and P2, respectively, after 13 days, and complete fungal clearance was observed after complementary nystatin and caspofungin treatments, respectively. Therefore, treatment of oral candidiasis with human polyvalent IgG administered as a mouthwash helps eliminate mucosal infection in humans, circumventing drug resistance, and opening its potential use in patients with primary or transient immunodeficiency.


Asunto(s)
Antifúngicos/administración & dosificación , Candidiasis Mucocutánea Crónica/tratamiento farmacológico , Candidiasis Bucal/tratamiento farmacológico , Inmunoglobulinas Intravenosas/administración & dosificación , Antisépticos Bucales/administración & dosificación , Administración Oral , Candida albicans/efectos de los fármacos , Candida albicans/inmunología , Candida albicans/aislamiento & purificación , Candidiasis Mucocutánea Crónica/genética , Candidiasis Mucocutánea Crónica/inmunología , Candidiasis Mucocutánea Crónica/microbiología , Candidiasis Bucal/genética , Candidiasis Bucal/inmunología , Candidiasis Bucal/microbiología , Caspofungina/administración & dosificación , Niño , Farmacorresistencia Fúngica/efectos de los fármacos , Farmacorresistencia Fúngica/inmunología , Quimioterapia Combinada , Femenino , Humanos , Mutación , Nistatina/administración & dosificación , Fagocitos/efectos de los fármacos , Fagocitos/inmunología , Resultado del Tratamiento
10.
Front Immunol ; 8: 1651, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29270166

RESUMEN

In humans, recessive loss-of-function mutations in STAT1 are associated with mycobacterial and viral infections, whereas gain-of-function (GOF) mutations in STAT1 are associated with a type of primary immunodeficiency related mainly, but not exclusively, to chronic mucocutaneous candidiasis (CMC). We studied and established a molecular diagnosis in a pediatric patient with mycobacterial infections, associated with CMC. The patient, daughter of a non-consanguineous mestizo Mexican family, had axillary adenitis secondary to BCG vaccination and was cured with resection of the abscess at 1-year old. At the age of 4 years, she had a supraclavicular abscess with acid-fast-staining bacilli identified in the soft tissue and bone, with clinical signs of disseminated infection and a positive Gene-X-pert test, which responded to anti-mycobacterial drugs. Laboratory tests of the IL-12/interferon gamma (IFN-γ) circuit showed a higher production of IL-12p70 in the whole blood from the patient compared to healthy controls, when stimulated with BCG and BCG + IFN-γ. The whole blood of the patient produced 35% less IFN-γ compared to controls assessed by ELISA and flow cytometry, but IL-17 producing T cells from patient were almost absent in PBMC stimulated with PMA plus ionomycin. Signal transduction and activator of transcription 1 (STAT1) was hyperphosphorylated at tyrosine 701 in response to IFN-γ and -α, as demonstrated by flow cytometry and Western blotting in fresh blood mononuclear cells and in Epstein-Barr virus lymphoblastoid cell lines (EBV-LCLs); phosphorylation of STAT1 in EBV-LCLs from the patient was resistant to inhibition by staurosporine but sensitive to ruxolitinib, a Jak phosphorylation inhibitor. Genomic DNA sequencing showed a de novo mutation in STAT1 in cells from the patient, absent in her parents and brother; a known T385M missense mutation in the DNA-binding domain of the transcription factor was identified, and it is a GOF mutation. Therefore, GOF mutations in STAT1 can induce susceptibility not only to fungal but also to mycobacterial infections by mechanisms to be determined.

11.
Rev Alerg Mex ; 56 Suppl 1: S49-57, 2009.
Artículo en Español | MEDLINE | ID: mdl-20873053

RESUMEN

Acute asthma is characterized by acute air way obstruction episodes presented as short breath, increased coughing, wheezing and difficult breathing, reversible with bronchodilator. It constitutes one of the most frequent causes of pediatric ER visits whose diagnosis and treatment is not always adequate. It is necessary to carry out a complete medical history searching for the number of previous attacks, risk factors, associated illnesses, triggers, prior hospitalizations, preventive and maintenance treatment used, along with a complete physical examination. During the management of moderate-severe attacks frequent systematic assessments are required to ensure treatment response. In children above 5 years old, monitoring of expiratory peak flow (EPF) during mild-moderate attacks is recommended. In general, a national consensus to classify and treat acute asthma in emergency services does not exist for which the need to develop a clinical practice guide of diagnosis and management arises.


Asunto(s)
Asma/diagnóstico , Asma/terapia , Tratamiento de Urgencia , Enfermedad Aguda , Algoritmos , Asma/complicaciones , Niño , Humanos , Índice de Severidad de la Enfermedad
13.
Bol. méd. Hosp. Infant. Méx ; 51(5): 305-10, mayo 1994. tab
Artículo en Español | LILACS | ID: lil-138900

RESUMEN

El objetivo principal del presente estudio fue el de establecer un panorama epidemiológico de la fibrosis quística en México, analizando la edad promedio de diagnóstico y la sobrevida tanto a partir del nacimiento como del diagnóstico. Se revisaron los datos de 351 pacientes registrados en la Asociación Mexicana de Fibrosis Quística de 1982 a 1991. La edad promedio en 244 casos disponibles para el análisis fue de casi diez años para ambos sexos. Destacamos que la edad promedio de diagnóstico fue alta (4.4 años), encontrando una diferencia estadística significativa en favor del sexo masculino (P<0.05). Esto se reflejó en una pobre esperanza de vida, ya que el 49.2 por ciento de los pacientes incluidos en esta serie apenas alcanzaron los nueve años, no mostrando diferencias significativas por sexo. Finalmente es importante señalar que la tasa de mortalidad en el primer año de vida de nuestra serie fue de 0.062 y solamente el 51.7 por ciento de los 242 casos analizados apenas alcanzaron el cuarto año de vida posterior al diagnóstico sin diferencia significativa por sexo (P>0.05). Los resultados de nuestro estudio suponen la existencia de factores que en forma categórica determinan la pobre sobrevida de los pacientes estudiados, sobresaliendo en forma importante el diagnóstico tardío de esta entidad nosológica


Asunto(s)
Humanos , Masculino , Femenino , Interpretación Estadística de Datos , Epidemiología Descriptiva , Fibrosis Quística/diagnóstico , Fibrosis Quística/genética , Tasa de Supervivencia
14.
Acta pediátr. Méx ; 11(3): 149-60, jul.-sept. 1990. tab
Artículo en Español | LILACS | ID: lil-98994

RESUMEN

La fibrosis quística (FQ) en México ha sido considerada, hasta años recientes, como una enfermedad inexistente o poco frecuente. En realidad no se conoce su frecuencia en la población general. A nivel institucional la frecuencia de FQ es de 1% en el material de autopsias. Los autores atribuyen su excepcional identificación a la falta de conocimientos de la enfermedad, a la patología intercurrente relacionada con el medio y a la temprana mortalidad de los niños afectados. Sobre estas bases se justifica esta publicación, cuyo objetivo es difundir el perfil clínico de la FQ en nuestro medio, los criterios diagnósticados y las perspectivas en su prevención y tratamiento. Se analizaron 39 casos diagnosticados en vida entre 1981 y 1988. El diagnóstico se estableció en presencia de un cuadro clínico sugestivo y cifras de cloro en sudor de 60 o más mEq/L (mmol/L). El cuadro clínico fué similar al que ha sido descrito en la población de los países desarrollados; sin embargo, se encontraron diferencias importantes en relación con la severidad del daño y con la pobre esperanza de vida observados en esta serie. La desnutrición primaria y la diarrea crónica, que son frecuentes en nuestro medio, constituyeron un importante distractor clínico. La agudización de la afección respiratoria crónica fue la principal causa de muerte a una edad promedio de cuatro años. Se menciona que actualmente es posible establecer el diagnóstico pre-natal de FQ, midiendo los niveles de alfa-glutamil-transpeptidasa y otras enzimas que se producen en las vellosidades intestinales del embrión y que se encuentran disminuidas en el líquido amniótico en casos de FQ; también es posible identificar a los portadores sanos mediante técnicas de ingeniería genética que ubican al locus de la FQ y a los marcadores de DNA que se relacionan con este locus, en el cromosoma 7. La aplicación de estas técnicas en la clínica permitirá, tal vez, evitar la procreación entre portadores sanos cuyo riesgo es tener hijos enfermos de FQ es de 25% en cada embarazo.


Asunto(s)
Humanos , Recién Nacido , Lactante , Preescolar , Niño , Adolescente , Diagnóstico Prenatal/métodos , Fibrosis Quística/diagnóstico , Fibrosis Quística/prevención & control , Fibrosis Quística/terapia , Enfermedades Pulmonares Parasitarias/diagnóstico , Enfermedades Pulmonares Parasitarias/prevención & control , Enfermedades Pulmonares Parasitarias/terapia , Autopsia
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