Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele

Polizzi, Angela; Tesse, Riccardina; Santostasi, Teresa; Diana, Anna; Manca, Antonio; Logrillo, Vito Paolo; Cazzato, Maria Domenica; Pantaleo, Maria Giuseppa; Armenio, Lucio

doi:10.1590/s1415-47572011000300008

Cited by 12 publications

(11 citation statements)

References 42 publications

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“…Decaesteker et al describe that patients with G85E had a significantly higher sweat chloride, higher prevalence of pancreatic insufficiency, worse current weight for height and higher prevalence of chronic P. aeruginosa colonization. However, these findings are not highly concordant with our patient (46). The last case demonstrates slight malnutrition, common bacteria colonization for the age and normal respiratory function.…”

Section: Discussioncontrasting

confidence: 88%

Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

Lascano-Vaca¹,

Ortíz-Prado

Gómez-Barreno

et al. 2019

Preprint

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Objective: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed CF attending the Carlos Andrade Marín Hospital within the study period. Methods: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of cystic fibrosis (CF) disease, who attended one of the largest tertiary-level hospitals in Ecuador between 2017 and 2018 was conducted. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. Results: 47 patients with CF were included in the study. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV1/FVC) changed significantly after nine months post-diagnosis (85.55 ± 13.26; p <0.05). The most common pathogenic genetic mutations were F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13); g.204099A>C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each. Conclusions: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF’s patients in Ecuador. Due to the lack of universal screening in the country, a large proportion of individuals are being diagnosed or misdiagnosed later than expected, jeopardizing their treatments and prognosis. It is relevant to establish that the presence of the g.204099A> C and the c.206359C>A homozygous mutation variants have only been reported among Ecuadorians. These patients appear to show a less severe CF disease and a better prognosis.

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Section: Discussioncontrasting

confidence: 88%

Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

Lascano-Vaca¹,

Ortíz-Prado

Gómez-Barreno

et al. 2019

Preprint

View full text Add to dashboard Cite

show abstract

“…Decaesteker et al describe that patients with G85E had a significantly higher sweat chloride, higher prevalence of pancreatic insufficiency, worse current weight for height and higher prevalence of chronic P. aeruginosa colonization. However, these findings are not highly concordant with our patient [45]. The last case demonstrated slight malnutrition, common bacteria colonization for the age and normal respiratory function.…”

Section: Discussioncontrasting

confidence: 85%

“…This combination of polymorphisms and variants show a variety of phenotypes in patients, such as nutritional compound, microbiological cultures, respiratory spirometry values or as a combined effect. As Polizzi et al described, there is a direct relation between phenotype with the specific variant panel [45]. The most severe cases with c.204099A > C polymorphism were between 10 and 15 years old and related to H609R and F508del/W1098X variants.…”

Section: Discussionmentioning

confidence: 87%

Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador

et al. 2020

View full text Add to dashboard Cite

Background: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed cystic fibrosis (CF) attending the Carlos Andrade Marín Hospital (HCAM) within the study period. Methods: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of CF disease who attended HCAM, one of the largest tertiary-level hospitals in Ecuador, between 2017 and 2018 was performed. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. Results: Forty seven patients with CF were included in the study. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV 1 /FVC) changed significantly after nine months post-diagnosis (85.55 ± 13.26; p < 0.05). The most common pathogenic genetic variants were F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13); g.204099A > C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each. Conclusions: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF's patients in Ecuador. Within the cohort of patients, an important and unique genetic feature was characterized by the presence of the g.204099A > C and the c.206359C > A homozygous polymorphism as well as the presence of the H609R variant, a mutation only reported among Ecuadorians.

show abstract

“…This combination of polymorphisms and variants show a variety of phenotypes in patients, such as nutritional compound, microbiological cultures, respiratory spirometry values or as a combined effect. As Polizzi et al described, there is a direct relation between phenotype with the specific variant panel (45). The most severe cases with c.204099A>C polymorphism were between 10-15 years old and related to H609R and F508del/W1098X variants.…”

Section: Discussionmentioning

confidence: 87%

Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

Lascano-Vaca¹,

Ortíz-Prado

Gómez-Barreno

et al. 2020

Preprint

View full text Add to dashboard Cite

SummaryObjective: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed cystic fibrosis (CF) attending the Carlos Andrade Marín Hospital (HCAM) within the study period.Methods: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of CF disease who attended HCAM, one of the largest tertiary-level hospitals in Ecuador, between 2017 and 2018 was performed. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. Results: 47 patients with CF were included in the study. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV1/FVC) changed significantly after nine months post-diagnosis (85.55 ± 13.26; p <0.05). The most common pathogenic genetic variants were F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13); g.204099A>C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each. Conclusions: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF’s patients in Ecuador. Within the cohort of patients, an important and unique genetic feature was characterized by the presence of the g.204099A> C and the c.206359C>A homozygous polymorphism as well as the presence of the H609R variant, a mutation only reported among Ecuadorians.

show abstract

Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele

Cited by 12 publications

References 42 publications

Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador

Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

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