Atypical CF and CF related diseases
References (10)
- et al.
A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration
J Pediatr
(1995) - et al.
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C->T mutation
Lancet
(1993) - et al.
Cystic fibrosis transmembrane conductance regulator and obstructive azospermia
Lancet
(1995) - et al.
Uncommon presenting manifestations of cystic fibrosis: a clinical alert
Paediatr Paedol
(1995) - et al.
Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis
Am J Respir Crit Care Med
(1995)
Cited by (36)
ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria
2022, Journal of Cystic FibrosisCitation Excerpt :In fact, the correct identification and adequate clinical monitoring of patients with CFTR-RD is often limited by clinical practice insufficiently informed by clear guidelines. It is indeed difficult to delineate exactly where CF stops and CFTR-RD begins and not infrequently these patients receive inconsistent messages [6–18]. The European Cystic Fibrosis Society (ECFS) and its Diagnostic Network Working Group assembled a panel of experts to produce standards of care for the diagnosis and management of CFTR-RD. This document is the first of a sequence of four papers dedicated to this topic.
Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population
2015, Pathologie BiologieCitation Excerpt :Currently, over than 1900 sequence variations have been described within the CFTR gene, along with geographic and ethnic variations in their distribution and frequency. These variations confer somewhat variable phenotypes from classic CF to atypical CF with less severe pulmonary lesions, pancreatic sufficiency, and normal or borderline sweat chloride concentration [2]. Additional effects of genetic factors (genetic markers and modifier genes) and/or environmental factors may cause clinical heterogeneity of CF. The most common polymorphism M470V in European populations was the subject of several studies in CF, CF-related diseases and healthy cohorts revealing its role as a predisposing genetic factor.
Role of tyrosine phosphorylation in the muscarinic activation of the cystic fibrosis transmembrane conductance regulator (CFTR)
2013, Journal of Biological ChemistryGenetic risk factors for pancreatic disorders
2013, GastroenterologyCitation Excerpt :The more common variants are classified clinically as severe or mild, based on their effect on pancreatic function. An accepted molecular classification strategy organizes the variants by their effects on CFTR function, with class I–III variants causing severe dysfunction and class IV–V causing reduced or altered function.61,62 Class IV–V variants have mild to variable effects on the pancreas and other organs, often leaving sufficient function for basic physiological needs but not enough to handle stress.
Mild cystic fibrosis in patients with the rare P5L CFTR mutation
2012, Journal of Cystic FibrosisCitation Excerpt :In recent years it has been acknowledged that there is a wide clinical spectrum of disease associated with the CFTR mutations. About 10% of the patients present a mild form of CF often involving a single organ dysfunction, in many cases with mild respiratory symptoms, pancreatic sufficiency and normal or borderline sweat test [3–5]. Because of the unusual presentation, the diagnosis of these “non classic” cystic fibrosis can be difficult to make.
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens
2010, Fertility and Sterility