Cystic fibrosis mortality and survival in the UK: 1947-2003

Dodge, J A; Lewis, Peter; Stanton, Michelle C.; Wilsher, J

doi:10.1183/09031936.00099506

Cited by 528 publications

(376 citation statements)

References 11 publications

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“…Carrier frequency for individuals of Northern European ancestry is around 1 in 25-30 (Williamson 1993). CF affects respiratory, gastrointestinal/digestive, reproductive as well as other systems and, although there is yet no cure, a range of treatments, especially those aimed at reducing the malnutrition (Southern et al 2009), have resulted in increased life expectancies (Dodge et al 2007;O'Sullivan and Freedman 2009). Identification of the CFTR gene associated with CF in 1989 Rommens et al 1989;Riordan et al 1989) led to the introduction of newborn screening in a number of countries.…”

Section: Carrier Screening For Cystic Fibrosismentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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Section: Carrier Screening For Cystic Fibrosismentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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“…There is currently no cure for CF, and the median survival time is 37 years. 3 Treatment involves daily chest physiotherapy, regular antibiotics, pancreatic enzyme replacement, vitamin and salt replacement, and a controlled diet. 4 Lung transplantation is possible, although the 6-year survival rate after transplantation is 50%.…”

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confidence: 99%

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

Ioannou

McClaren

Massie

et al. 2014

Genetics in Medicine

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“…Suppurative lung disease, respiratory failure, pancreatic insufficiency, diabetes, and biliary cirrhosis account for most of the morbidity and mortality of patients with CF (2). Advances in the care of patients with CF, mostly relying on symptomatic treatment strategies, have translated into continuous improvement of life expectancy in the past decade; it is assumed that infants who have CF and were born around 2000 may have a life expectancy as high as 50 yr (3).…”

mentioning

confidence: 99%

Renal Involvement in Cystic Fibrosis

Yahiaoui¹,

Jablonski²,

Hubert³

et al. 2009

Clinical Journal of the American Society of Nephrology

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Background and objectives: Clinically relevant kidney involvement is uncommonly described in adult patients with cystic fibrosis (CF). We sought to report on a series of patients with CF and kidney biopsy-documented renal involvement.Design, setting, participants, & measurements: A retrospective study was undertaken in two referral centers for adult patients with CF in Paris, France. Patients who had undergone a biopsy of native kidneys between 1992 and 2008 were identified, and their medical records were reviewed.Results: We identified 13 adult patients with CF and renal disease. Proteinuria was present in all but two cases and was associated with progressive renal impairment in four patients (median serum creatinine 85 mol/L; range 53 to 144 mol/L). Renal biopsy disclosed a heterogeneous spectrum of nephropathies including AA amyloidosis (n ‫؍‬ 3), diabetic glomerulopathy (n ‫؍‬ 3), FSGS (n ‫؍‬ 2), minimal-change disease (n ‫؍‬ 1), postinfectious glomerulonephritis (n ‫؍‬ 1), IgA nephropathy related to Henoch-Schö nlein purpura (n ‫؍‬ 1), membranous nephropathy (n ‫؍‬ 1), and chronic interstitial nephropathy (n ‫؍‬ 1). Chronic renal failure occurred in five patients, and one patient reached ESRD. Conclusions: Although rare, clinically significant renal disease may arise in young adult patients with CF. Given the wide spectrum of diseases that may be encountered, definite diagnosis by kidney biopsy is mandatory to optimize clinical treatment of these complex patients, particularly in the perspective of organ transplantation.

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Cystic fibrosis mortality and survival in the UK: 1947-2003

Cited by 528 publications

References 11 publications

Carrier screening in preconception consultation in primary care

Carrier screening in preconception consultation in primary care

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

Renal Involvement in Cystic Fibrosis

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