Intervención del terapista respiratorio en paciente femenino de 28 años con diagnóstico de fibrosis quístico.
| dc.contributor.advisor | Valle Delgado, Verónica María | |
| dc.contributor.author | Álvarez Manzo, Jeramel Beatriz | |
| dc.date.accessioned | 2022-05-24T19:47:30Z | |
| dc.date.available | 2022-05-24T19:47:30Z | |
| dc.date.issued | 2022 | |
| dc.identifier.uri | http://dspace.utb.edu.ec/handle/49000/11885 | |
| dc.description | Cystic fibrosis (CF) is one of the most common fatal genetic diseases among Caucasians. It is characterized by dysfunction of the exocrine glands, pancreatic insufficiency and chronic bronchitis. It is an autosomal recessive disease with a known defective gene on human chromosome 7 called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, among all the mutations present in this gene mutations, the DF508 mutation is the most common to occur, which is basically found in about 70% of defective CFTR alleles. Traditionally, the diagnosis of cystic fibrosis has been based on at least 2-3 positive sweat electrolyte determinations and one of the following clinical criteria: meconium obstruction, family history of cystic fibrosis, renal pancreatic insufficiency, chronic lung disease, azoospermia, and salt intake. . (E.J., 2018). Current diagnostic criteria include, given the clinical features, two measurements of sweat chloride concentration above 60 mmol/L or evidence of impaired ion transport across the nasal epithelium (nasal potential difference) or detecting two putative cystic fibrosis mutations. | es_ES |
| dc.description | Cystic fibrosis (CF) is one of the most common fatal genetic diseases among Caucasians. It is characterized by dysfunction of the exocrine glands, pancreatic insufficiency and chronic bronchitis. It is an autosomal recessive disease with a known defective gene on human chromosome 7 called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, among all the mutations present in this gene mutations, the DF508 mutation is the most common to occur, which is basically found in about 70% of defective CFTR alleles. Traditionally, the diagnosis of cystic fibrosis has been based on at least 2-3 positive sweat electrolyte determinations and one of the following clinical criteria: meconium obstruction, family history of cystic fibrosis, renal pancreatic insufficiency, chronic lung disease, azoospermia, and salt intake. . (E.J., 2018). Current diagnostic criteria include, given the clinical features, two measurements of sweat chloride concentration above 60 mmol/L or evidence of impaired ion transport across the nasal epithelium (nasal potential difference) or detecting two putative cystic fibrosis mutations. | es_ES |
| dc.description.abstract | La fibrosis quística (FQ) es una enfermedad hereditaria. Esto se debe a un gen defectuoso que hace que el cuerpo produzca un líquido anormalmente espeso llamado moco. Esta mucosidad se acumula en las vías respiratorias de los pulmones y el páncreas. Esta acumulación de mucosidad puede provocar infecciones pulmonares potencialmente mortales y problemas digestivos graves. La enfermedad también afecta las glándulas sudoríparas y el sistema reproductor masculino. Es una enfermedad autosómica recesiva con un gen defectuoso conocido en el cromosoma 7 humano llamado gen regulador de la conductancia transmembrana de la fibrosis quística (CFTR), entre todas las mutaciones presentes de este gen mutaciones, la mutación DF508 es la más común en presentarse, que básicamente se encuentra en aproximadamente 70 % de alelos CFTR defectuosos. Tradicionalmente, el diagnóstico de fibrosis quística se ha basado en al menos 2-3 determinaciones positivas de electrolitos en sudor y uno de los siguientes criterios clínicos: obstrucción por meconio, antecedentes familiares de fibrosis quística, insuficiencia renal pancreática, enfermedad pulmonar crónica, azoospermia e ingesta de sal. (E.J., 2018). Los criterios de diagnóstico actuales incluyen, dadas las características clínicas, dos mediciones de la concentración de cloruro en el sudor por encima de 60 mmol/L o evidencia de transporte de iones alterado a través del epitelio nasal (diferencia de potencial nasal) o detectar dos supuestas mutaciones de fibrosis quística. | es_ES |
| dc.format.extent | 43 p. | es_ES |
| dc.language.iso | es | es_ES |
| dc.publisher | Babahoyo: UTB-FCS, 2022 | es_ES |
| dc.rights | Atribución-NoComercial-SinDerivadas 3.0 Ecuador | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/ec/ | * |
| dc.subject | Fibrosis Quística | es_ES |
| dc.subject | Mutaciones | es_ES |
| dc.subject | Meconio | es_ES |
| dc.subject | Epitelio Nasal | es_ES |
| dc.title | Intervención del terapista respiratorio en paciente femenino de 28 años con diagnóstico de fibrosis quístico. | es_ES |
| dc.type | bachelorThesis | es_ES |
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