Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis
Introduction: Cystic fibrosis is a genetic disease of autosomal recessive inheritance, characterized by dysfunction of the exocrine secretion glands. Case report: Male patient 2 years of age, at term (39 weeks). In the third trimester of pregnancy, polyhydramnios, dilated bowel loops and a possible...
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| Format: | Article |
| Language: | English |
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Universidad de Ciencias Médicas de Pinar del Río
2019-03-01
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| Series: | Universidad Médica Pinareña |
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| Online Access: | http://revgaleno.sld.cu/index.php/ump/article/view/348 |
| _version_ | 1827851424217694208 |
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| author | Melissa Toledo Licourt Ana Laura Téllez García Deysi Licourt Otero |
| author_facet | Melissa Toledo Licourt Ana Laura Téllez García Deysi Licourt Otero |
| author_sort | Melissa Toledo Licourt |
| collection | DOAJ |
| description | Introduction: Cystic fibrosis is a genetic disease of autosomal recessive inheritance, characterized by dysfunction of the exocrine secretion glands.
Case report: Male patient 2 years of age, at term (39 weeks). In the third trimester of pregnancy, polyhydramnios, dilated bowel loops and a possible low bowel atresia is not ruled out at that time. Rest of normal genetic tests. At the month of birth he enters due to malnutrition and liquid diarrhea. After 2 months, she re-entered due to respiratory manifestations, in the nutritional evaluation her height and weight was below the third percentile, she had skin-pale pallor, demonstrating anemia due to iron deficiency and light hair color. Given the prenatal history and the predominance of digestive and respiratory manifestations, it is decided to perform sweat electrolyte examination in 2 moments, which are negative. It is decided to conduct a molecular study for the detection of mutations that results: ΔF508del / R1162X (Heterozygous compound for cystic fibrosis). Dietary and vitamin therapy treatment is applied. He continues his attention in multidisciplinary consultations, Nutrition, Gastroenterology, Genetics and Pediatrics.
Conclusions: The early diagnosis of cystic fibrosis is made by detecting the cardinal signs that involve the respiratory and digestive system; as well as family history. In the prenatal stage, the findings related to the increased amniotic fluid, the alteration of the fetal vesicle should be taken into account, which allows the definitive diagnosis to be made by studying the mutations. |
| first_indexed | 2024-03-12T10:32:56Z |
| format | Article |
| id | doaj.art-a2c1664bee3449baab2dbee0fd196980 |
| institution | Directory Open Access Journal |
| issn | 1990-7990 |
| language | English |
| last_indexed | 2024-03-12T10:32:56Z |
| publishDate | 2019-03-01 |
| publisher | Universidad de Ciencias Médicas de Pinar del Río |
| record_format | Article |
| series | Universidad Médica Pinareña |
| spelling | doaj.art-a2c1664bee3449baab2dbee0fd1969802023-09-02T09:07:58ZengUniversidad de Ciencias Médicas de Pinar del RíoUniversidad Médica Pinareña1990-79902019-03-01152272278348Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosisMelissa Toledo Licourt0Ana Laura Téllez García1Deysi Licourt Otero2Universidad de Ciencias Médicas de Pinar del Río. Facultad de Ciencias Médicas “Dr. Ernesto Che Guevara de la Serna”.Universidad de Ciencias Médicas de Pinar del Río. Facultad de Ciencias Médicas “Dr. Ernesto Che Guevara de la Serna”.Universidad de Ciencias Médicas de Pinar del Río. Centro Provincial de Genética Médica.Introduction: Cystic fibrosis is a genetic disease of autosomal recessive inheritance, characterized by dysfunction of the exocrine secretion glands. Case report: Male patient 2 years of age, at term (39 weeks). In the third trimester of pregnancy, polyhydramnios, dilated bowel loops and a possible low bowel atresia is not ruled out at that time. Rest of normal genetic tests. At the month of birth he enters due to malnutrition and liquid diarrhea. After 2 months, she re-entered due to respiratory manifestations, in the nutritional evaluation her height and weight was below the third percentile, she had skin-pale pallor, demonstrating anemia due to iron deficiency and light hair color. Given the prenatal history and the predominance of digestive and respiratory manifestations, it is decided to perform sweat electrolyte examination in 2 moments, which are negative. It is decided to conduct a molecular study for the detection of mutations that results: ΔF508del / R1162X (Heterozygous compound for cystic fibrosis). Dietary and vitamin therapy treatment is applied. He continues his attention in multidisciplinary consultations, Nutrition, Gastroenterology, Genetics and Pediatrics. Conclusions: The early diagnosis of cystic fibrosis is made by detecting the cardinal signs that involve the respiratory and digestive system; as well as family history. In the prenatal stage, the findings related to the increased amniotic fluid, the alteration of the fetal vesicle should be taken into account, which allows the definitive diagnosis to be made by studying the mutations.http://revgaleno.sld.cu/index.php/ump/article/view/348fibrosis quística, enfermedades genéticas congénitas, enfermedades del recién nacido |
| spellingShingle | Melissa Toledo Licourt Ana Laura Téllez García Deysi Licourt Otero Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis Universidad Médica Pinareña fibrosis quística, enfermedades genéticas congénitas, enfermedades del recién nacido |
| title | Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis |
| title_full | Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis |
| title_fullStr | Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis |
| title_full_unstemmed | Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis |
| title_short | Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis |
| title_sort | prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis |
| topic | fibrosis quística, enfermedades genéticas congénitas, enfermedades del recién nacido |
| url | http://revgaleno.sld.cu/index.php/ump/article/view/348 |
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