Parents Of Cystic Fibrosis Patients Research Articles

Isonimy analysis in a sample of parents of cystic fibrosis patients from Antioquia, Colombia

Introduccion. La fibrosis quistica es una de las enfermedades autosomicas recesivas mas comunes en personas de descendencia europea. La distribucion geografica de las mutaciones del gen CFTR varia a nivel mundial. Objetivo. Determinar el grado de isonimia en una muestra de padres de pacientes con fibrosis quistica. Materiales y metodos. En los padres de ninos con fibrosis quistica, se calculo la isonimia esperada y observada, y los componentes de endogamia Fr, Fn y Ft, el valor α y el valor B. Tales datos se calcularon tanto para la poblacion total de Antioquia, como para la subpoblacion del oriente antioqueno. Resultados. Se analizaron 35 parejas de padres de ninos antioquenos con fibrosis quistica. Los valores obtenidos de Fr, Fn, Ft, α y B fueron 0,01, 0,007, 0,019, 268 y 0,44, respectivamente, para la poblacion total de padres antioquenos, y de 0,026, 0,0017, 0,027, 135 y 0,62, para la subpoblacion del oriente. Los apellidos mas frecuentes en la muestra total (n=70) fueron Gomez (6 %), Alzate (4 %) y Gonzalez (3,7 %), mientras que para la subpoblacion del oriente (n=32) fueron Gomez (8%) y Marin (6 %). Conclusiones. Nuestros resultados sugieren un alto porcentaje de apellidos compartidos, lo cual se ve reflejado en los valores de isonimia. Similarmente, la presencia de un numero reducido de apellidos en un porcentaje importante de la poblacion se ve reflejado en los valores Fr obtenidos para ambos analisis, los cuales sugieren homogeneidad. Asi, se espera un bajo numero de mutaciones CFTR en los ninos antioquenos con fibrosis quistica. DOI: http://dx.doi.org/10.7705/biomedica.v32i1.605

Isonymy analysis in a sample of parents of cystic fibrosis patients from Antioquia, Colombia

Cystic fibrosis (CTFR) is one of the most common autosomal recessive disorders in European descendants. Geographic distribution of CFTR gene mutations vary worldwide. The degree of isonimy was evaluated in a sample of parents with children affected by cystic fibrosis. Observed and expected isonimy as well as endogamy components (Fr, Fn, Ft, and the values α and B) were calculated for 35 parents of children diagnosed with cystic fibrosis. These parameters were calculated for both the total population of Antioquia Province and for an eastern subpopulation of Antioquia. The values obtained for Fr, Fn, Ft, α and B were 0.01, 0.007, 0.019, 268 and 0.44, respectively for the total population of Antioquia. For the eastern subpopulation, the values were 0.026, 0.0017, 0.027, 135 and 0.62. The most frequent last-names in the total sample (n=70) were Gómez (6%), Alzate (4%), and González (3.7 %), whilst for the eastern subpopulation (n=32) were Gómez (8%) and Marín (6%). A high percentage of last-names was shared, as is reflected in the isonimy values. Similarly, the presence of a reduced number of last-names in an important percentage of the population is reflected in the Fr values obtained for both analyses, which suggest homogeneity. Thus, it is expected a low number of CFTR mutations in the children from Antioquia with cystic fibrosis.

CA 19-9, CA 50 and elastase 1 as additional markers of cystic fibrosis.

Since reliable diagnosis of cystic fibrosis (CF) is still difficult, the occurrence of serum markers CA 19-9, CA 50 and elastase 1 was analysed. Serum levels of CA 19-9, CA 50, CA 125 and elastase 1 were estimated in 54 CF patients as well as in a control group of 66 children of similar age suffering from various other diseases and in 57 parents of CF patients. In 67% of CF patients CA 19-9 was higher than 37 U/ml, whereas 8% of the control group and only 2% of the parents showed an increased concentration. In the case of CA 50, 65% of the CF group, 21% of the control and none of the parents exhibited concentrations higher than 17 U/ml. In CF 22% showed decreased, 8% increased elastase 1 values. In the control group 2% had less than 80 ng/dl and 3% had higher elastase 1 levels than 400 ng/dl. In parents there were only increased levels in 4%. Accordingly CA 19-9 has been proven as a suitable marker and its sensitivity can be improved from 67% to 86% by additional testing of CA 50 and elastase 1. With regard to CA 125 in 11% of CF patients, 5% of control persons and 5% of parents CA 125 levels ranged above 35 U/ml. The determination of saliva CA 19-9 and CA 125 does not yield further information. Taking all previous findings into account elastase 1 is a better marker for acute pancreatitis than for pancreatic cancer and CF.(ABSTRACT TRUNCATED AT 250 WORDS)