Articolul precedent |
Articolul urmator |
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Ultima descărcare din IBN: 2024-04-06 18:37 |
SM ISO690:2012 MUNTEANU, Doina. Pancreasul în mucoviscidoză. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 9. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Rezumat | ||||||
Background. Cystic fibrosis is an inherited-recessive disease with progressive chronic evolution, caused by a defect in the CFTR gene. The pancreas is one of the most commonly affected organs by disease, leading to pancreatic insufficiency and significant decrease in life expectancy. Objective of the study. To study the genetic aspects in affecting the pancreas with cystic fibrosis by presenting the following clinical research. Material and Methods. A clinical research was conducted and analyzes the statistics of 49 pacients known with cystic fibrosis at the IMSP Institutul Mamei și Copilului. Aspects analyzed: patient age (PA), disease onset (DO), fecal elastase value (FEV), mutant gene class (MGC), body mass index (BMI). Results. PA: 0-5 years- 9 pers., 5-10 years-12 pers., 10-15 years-13 pers., 1520 years-5 pers., 20-25 years -5 pers., 25 -30 years-1 pers., 30-35 years -4 pers. DO: up to 1 year-65%, more than 1 year-35%. FEV: 90% - low values of an elastase, 10% - normal values. The information above show the presence of CFTR gene mutation in all pacients, hence the following data was recorded: delta F508- 70%, G 542 X-7%, 2184 ins A-7%, 663 dup T-3%, other - 13%. MGC: Class I- 28%, Class II-65%, Class V-5%, Class III, IV, VI-2%. BMI: 30% of patients had severe malnutrition. Conclusion. (1) Cystic fibrosis is a monogenic disease, the diagnosis of which is established, mainly during the first year of life. (2)The F508 delta mutation is the most common, respectively, class II remains the most affected. (3)Class I and II lead to a classic CF phenotype with pancreatic insufficiency. |
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Cuvinte-cheie mucoviscidosis, cystic fibrosis, pancreas, malnutrition, Mutation, mucoviscidoză, Fibroza chistică, pancreas, malnutriție, mutaţie |
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