Nasal potential difference in cystic fibrosis diagnosis of very young children

Sermet‐Gaudelus, Isabelle; Girodon, Emmanuelle; Huet, Frédéric; Abou‐Taam, Rola; Bui, Stéphanie; Deneuville, E.; Guillot, M; Vrielynck, S.; Lenoir, G.; Edelman, Aleksander

doi:10.1016/j.jpeds.2006.11.055

Cited by 8 publications

(3 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A detailed discussion of the advantages, limitations and pitfalls of short circuit current measurements in recirculating Ussing chambers versus the Freiburg protocol can be found in De Boeck et al (24). Although the recirculating chamber technique has become the European (26) and North American (27) standard for ICM, both methods have been applied successfully for fine diagnosis of CF and for preclinical and clinical testing of CFTR correctors and potentiators, with similar results (25,28–31).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Comparison of Nasal Potential Difference and Intestinal Current Measurements as Surrogate Markers for CFTR Function

Wilschanski

Yaakov

Omari

et al. 2016

J. pediatr. gastroenterol. nutr.

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

“…In addition, NPD cannot be routinely performed in children younger than 8 years of age due to the prolonged nature of the test and the requirement of the subject to remain still. There are few centers that routinely perform NPD on small children (27,43).…”

Section: Discussionmentioning

confidence: 99%

Comparison of Nasal Potential Difference and Intestinal Current Measurements as Surrogate Markers for CFTR Function

Wilschanski

Yaakov

Omari

et al. 2016

J. pediatr. gastroenterol. nutr.

View full text Add to dashboard Cite

show abstract

“…In other respects, because of a lack of correlation between sweat chloride values and the phenotype, it would be interesting to determine whether other physiological tests, such as nasal potential difference measurements, could be more accurate, especially in NBS children,29 30 in order to identify those who are prone to develop lung disease requiring regular clinical assessments and treatment.…”

Section: Discussionmentioning

confidence: 99%

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Thauvin‐Robinet¹,

Munck²,

Huet³

et al. 2009

Journal of Medical Genetics

115

View full text Add to dashboard Cite

Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability associated with certain mutations makes genetic counselling difficult, notably for R117H, whose disease phenotype varies from asymptomatic to classical CF. The high frequency of R117H observed in CF newborn screening has also introduced diagnostic dilemmas. The aim of this study was to evaluate the disease penetrance for R117H in order to improve clinical practice. Methods: The phenotypes in all individuals identified in France as compound heterozygous for R117H and F508del, the most frequent CF mutation, were described. F508del] was estimated at 0.03% and that of severe CF in adulthood at 0.06%. Conclusions: These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes. The real impact of so-called disease mutations should be assessed before including them in newborn or preconceptional carrier screening programmes.Cystic fibrosis (CF, MIM 219700) is one of the most frequent life shortening autosomal recessive diseases, characterised in its classical form by chronic pulmonary obstruction and infections, pancreatic insufficiency, male infertility and elevated sweat chloride concentrations.

show abstract