Cystic fibrosis – Comparison between patients in paediatric and adult age

Santos, Vanessa; Cardoso, Augusta; Lopes, Camilla Magalhães; Azevedo, Pilar; Gamboa, Fredy; Amorim, A.

doi:10.1016/j.rppnen.2016.07.002

Cited by 5 publications

(6 citation statements)

References 20 publications

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“…As is reported in the literature, patients who receive early diagnosis of CF suffer from a combination of gastrointestinal and pulmonary symptoms, while respiratory disorders are more common when diagnosis is late. In adulthood, CF may be diagnosed on the basis of isolated symptoms ranging from male infertility to episodes of recurrent pancreatitis [ 3 ]; other patients have mild symptoms mimicking other respiratory disorders [ 13 , 14 ] with absence of digestive symptoms.…”

Section: Discussionmentioning

confidence: 99%

“…Advances in diagnostic procedures, including imaging [ 15 , 16 ], have contributed to early cystic fibrosis suspicion on admission. Late diagnosis (LD-CF) is possible and is defined as an individual who fulfils the criteria for CF and is either NBS-negative (LD-NBS-neg) with a negative immunoreactive trypsinogen (IRT) or genotype, or NBS-positive but with a sweat chloride (SC) < 60 mmol/L [ 3 , 17 ].…”

Section: Discussionmentioning

confidence: 99%

“…When CF is diagnosed in adults, it appears to be clinically different to pediatric presentation. Prognosis and life expectancy seems to be better when the disease is diagnosed in adulthood although the disease course is seriously affected by frequent respiratory infections and early bacterial colonization [ 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

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Incidental late diagnosis of cystic fibrosis following AH1N1 influenza virus pneumonia: a case report

Iadevaia¹,

Iacotucci²,

Carnovale³

et al. 2017

J Med Case Reports

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Background: Cystic fibrosis is an autosomal recessive disorder characterized by chronic progressive multisystem involvement. AH1N1 virus infections caused classic influenza symptoms in the majority of cystic fibrosis patients while others experienced severe outcomes. Case presentation: We report a case of late incidental cystic fibrosis diagnosis in a young Caucasian man suffering from respiratory failure following infection due to AH1N1 influenza virus. The patient was admitted to our department with fever, cough, and dyspnea at rest unresponsive to antibiotics Conclusions: Late diagnosis of cystic fibrosis in uncommon. This report highlights the importance of early cystic fibrosis diagnosis to minimize risk of occurrence of potential life-threatening complications.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Incidental late diagnosis of cystic fibrosis following AH1N1 influenza virus pneumonia: a case report

Iadevaia¹,

Iacotucci²,

Carnovale³

et al. 2017

J Med Case Reports

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“…Dažniausiai pažeidžiama kvėpavimo sistema, kiek rečiau -virškinamasis traktas [6]. Paprastai liga diagnozuojama jauname amžiuje -dar kūdikystėje arba vaikystėje, tačiau, gerėjant diagnostikos ir gydymo galimybėms, daugėja ir šia liga sergančių suaugusiųjų [7]. Sergant CF, labai svarbu laiku nustatyta ligos diagnozė ir skirtas adekvatus gydymas, gerinant sekreto evakuaciją iš kvėpavimo takų, retinant ligos paūmėjimus, taikant adekvačią antibiotikoterapiją, užtikrinant mitybą ir pakaitinę kasos fermentų terapiją, vykdant infekcijų kontrolę.…”

Section: Moksliniai Darbai Ir Apžvalgos įVadasunclassified

Sergančiųjų cistine fibroze 2014–2017 metų klinikinių duomenų analizė. Suaugusiųjų cistinės fibrozės centro patirtis

Kalinauskaitė-Žukauskė¹,

Malakauskas²

2020

PIA

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Tyrimo tikslas. Ištirti Lietuvos sveikatosmokslų universiteto ligoninėsKauno klinikų Suaugusiųjų cistinės fibrozės (CF) centre 2014–2017 m. gydytų pacientų klinikinius duomenis. Tyrimo metodai. Atlikta retrospektyvioji nuo 2014 m. sausio mėn. iki 2017 m. gruodžio mėn. Suaugusiųjų CF centre gydytų pacientų klinikinių duomenų analizė remiantis Europos CF draugijos pacientų registro kriterijais ir reikalavimais. Tyrimo rezultatai. 2014–2017 m. laikotarpiu centre iš viso gydyta 16 sergančiųjų CF (6 moterys ir 10 vyrų): 2014 m. gydyta 12 pacientų, vėliau – po 14.Minėtu laikotarpiu mirė du pacientai bei centras pasipildė 2 naujais sergančiaisiais. 81,2 proc. pacientų (n=13) CF diagnozuota iki 18metų, suaugusiojo amžiuje – 18,8 proc. (n=3). Visiems sergantiesiems diagnozė patvirtinta genetiškai, o devyniems nustatytas ir padidėjęs chloro jonų kiekis prakaite. Bent viena ∆F508 mutacija nustatyta visiems pacientams, abi ∆F508 mutacijos – 5 (31,3 proc.) asmenims. Nagrinėjamu laikotarpiu užfiksuotas sergančiųjų CF amžiaus vidurkio augimas nuo 24,6metų (2014 m.) iki 27,8metų (2017 m.). Plaučių funkcija, vertinta pagal vidutinį forsuoto iškvėpimo tūrį per pirmą sekundę (FEV1), išliko panaši – 59,7 proc. būtinojo dydžio (b. d.) (2014 m.) ir 60,5 proc. b. d. (2017 m.). Vidutinis kūnomasės indeksas (KMI) taip pat nekito – po 19,6 kg/m2 2014 m. ir 2017 m. Remiantis skreplių mikrobiologinio tyrimo rezultatais, dažniausiai buvo nustatoma lėtinė Staphyloccocus aureus infekcija – 75,0 proc. sergančiųjų 2014 m.; 57,1 proc. – 2015 m., 58,3 proc. – 2016 m., 64,3 proc. – 2017 m. Tuo tarpu lėtinė Pseudomonas aeruginosa infekcija diagnozuota rečiau – 18,3 proc. 2014 m., 14,3 proc. – 2015 m., 16,7 proc. – 2016 m. ir 14,3 proc. – 2017 m. Intermituojantis gydymas įkvepiamuoju antipseudomoniniu antibiotiku tobramicinu buvo skiriamas dviem pacientams, iš kurių vienam dėl išsivysčiusio atsparumo pakeistas į įkvepiamąjį kolistiną. Simptominio gydymo pagrindą sudarė įkvepiamasismukolitikas dornazė alfa, kasos fermentai ir bronchus plečiamieji vaistai. Vienam pacientui diagnozuotas su CF susijęs cukrinis diabetas, dviem pacientams nustatytas lėtinis kvėpavimo nepakankamumas bei taikyta nuolatinė deguonies terapija. Trys pacientai buvo įtraukti į plaučių transplantacijos laukiančiųjų sąrašą, du iš jų mirė. Išvados. 2014–2017 m. Suaugusiųjų CF centre gydytų pacientų amžius didėjo neblogėjant plaučių funkcijai ir nemažėjant KMI bei santykinai retai diagnozuojant lėtinę P. aeruginosa infekciją, o tai rodo CF centre teikiamos medicininės pagalbos veiksmingumą.

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“…The cornerstones of CF management are the treatment of respiratory infections, promotion of good nutrition, and an active lifestyle. 12 The increased life expectancy of these patients has meant that attention is now focused on new complications of the disease, such as endocrine dysfunctions, [13][14][15] in particular, dysfunctions involving the GH, the IGF system, thyroid hormones, insulin, and sex steroids. 2 Therefore, even though the current strategy to improve growth and weight in children with CF tends to focus on correction of exocrine pancreas insufficiency and nutritional supplements, careful evaluation of other endocrine complications such as GH deficiency (GHD) should not be overlooked.…”

mentioning

confidence: 99%

GH-IGF-1 Axis in Children with Cystic Fibrosis

et al. 2019

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Objective: To verify whether growth hormone receptor (GHR) gene expression plays a role in growth of children with cystic fibrosis (CF), as a consequence of the chronic inflammatory condition and malnutrition. Design:We enrolled 49 prepubertal patients (24 males and 25 females) affected by CF in a stable clinical condition, 19 of whom had been diagnosed through newborn screening and 30 following presentation of symptoms. Patients had no significant comorbidity affecting growth or cystic fibrosis transmembrane conductance regulator (CFTR)-related diabetes requiring insulin therapy. Blood was collected during two follow-up visits to measure insulin-like growth factor (IGF-I), growth hormonebinding protein (GHBP), and GHR gene expression. Recruited as a control group were 52 healthy children, sex-and age-matched, were recruited as a control group. Methods:We compared body mass index (BMI), height, weight, IGF-I, GHBP, and GHR gene expression values (evaluated by Chemiluminescent Immunometric assay; ELISA and real-time PCR, respectively) in CF patients diagnosed through newborn screening (NBS) or by symptoms (late diagnosis [LD]) and in healthy controls.Results: BMI increased significantly in patients between the time of diagnosis and check-up (P<0.001), particularly in the LD group; median value was lower at diagnosis and significantly higher (P<0.001) at follow-up visits compared to controls. At initial evaluation, higher levels of IGF-I (not statistically significant) were found in both the NBS group and the LD group compared to the control group. At the second evaluation, significantly higher levels of IGF-I (P=0.003) were found in both the NBS and LD groups compared to controls; GHR mRNA expression had significantly increased (P=0.013) in LD patients compared with the first evaluation and was significantly higher in the NBS and LD groups than in controls. GHBP values had significantly increased (P=0.047) in the NBS group after one year of therapy compared to first visit levels and were significantly higher (P<0,0001) in the NBS and LD groups compared to controls. Conclusion:In our LD patients during childhood, we observed good auxological values and a GH/ IGF-I axis function within normal range for the factor evaluated. However, earlier diagnosis through NBS might further minimize and prevent growth retardation, by reducing the duration of symptoms before treatment.

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Cystic fibrosis – Comparison between patients in paediatric and adult age

Abstract: The results suggest that patients with CF diagnosed in childhood have characteristics that distinguish them from those diagnosed in adulthood, and these differences may have implications for diagnosis, prognosis and life expectancy.

Cited by 5 publications

References 20 publications

Incidental late diagnosis of cystic fibrosis following AH1N1 influenza virus pneumonia: a case report

Incidental late diagnosis of cystic fibrosis following AH1N1 influenza virus pneumonia: a case report

Sergančiųjų cistine fibroze 2014–2017 metų klinikinių duomenų analizė. Suaugusiųjų cistinės fibrozės centro patirtis

GH-IGF-1 Axis in Children with Cystic Fibrosis

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