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Journal of Current Pediatric Research | Volume: 23
March 14-15, 2019 | London, UK
International Conference on
Pediatrics & Neonatal Healthcare
C
ystic Fibrosis (CF) is inherited multisystem disorder
(autosomal-recessive disease) caused by mutations in
the CF transmembrane conductance regulator (CFTR) gene
that encodes a cyclic adenosine monophosphate–regulated
chloride and bicarbonate channel expressed at the apical
membrane of epithelial cells. leads to a wide and variable
array of presenting manifestations and complications. It is
the most common life-threatening monogenic condition in
the white population with an estimated birth prevalence
of 1 in 1500–4000 newborns in European countries and
European-derived populations. CF is responsible for most
cases of exocrine pancreatic insufficiency in early life and is
the major cause of severe chronic lung disease in children.
It is also responsible for many cases of hypon5**atremic
salt depletion, nasal polyposis, pan sinusitis, rectal prolapse,
pancreatitis, cholelithiasis, and nonautoimmune insulin-
dependent hyperglycemia. The diagnosis of CF has been
based on a positive quantitative sweat test (Cl− ≥60 m Eq/L)
in conjunction with 1 or more of the following features:
typical chronic obstructive pulmonary disease, documented
exocrine pancreatic insufficiency, and a positive family
history. With newborn screening, diagnosis is often made
prior to obvious clinical manifestations such as failure to
thrive and chronic cough. CF newborn screening is a complex
procedure that uses multiple step combinations of tests on
dried blood spots. The first tier is always a measurement of
immunoreactive trypsinogen (IRT), followed in IRT-positive
babies by other tests, which usually include mutation
analysis of the CFTR gene. The aim is to identify neonates
at high risk of having CF, these infants are then referred to a
diagnostic service to confirm the diagnosis. Like any disease
in screening process, there is the potential for indeterminate
results. Infants with an indeterminate diagnosis present a
treatment challenge to clinicians and a stress on families. Of
those, there is a subset of infants with a positive newborn
screen for CF, elevated immunoreactive trypsinogen and 1 or
2 copies of a CFTR mutation, but who have an initial negative
sweat test and are asymptomatic. These infants have CFTR
metabolic syndrome (CRMS) and should be followed in a
CF center annually to ensure that they do not develop CF
symptoms. Older children who did not have newborn CF
screening available at birth can present the same way as
those with CRMS but will be called CFTR Related Disorder
(CFTR-RD) and not CRMS. All children with CRMS or CFTR
Related Disorder need to have check-ups with a cystic
fibrosis specialist doctor to be sure that any health problems
are detected and treated properly. Objective: The goal of this
presentation to review the Dilemma in neonatal screening
for diagnosis of Cystic Fibrosis with new terminology of
CFTR-related metabolic syndrome (CRMS) and CFTR related
disorders (CFTR-RD). Understanding the terminology of
CFTR-RD. and CRMS, increase awareness of close monitoring
of these patients whether eventually develop further disease
consistent with classical CF.
e:
fadi.mhadeen@yahoo.comDilemma in Neonatal screening for diagnosis of Cystic Fibrosis with new terminology of CFTR- Related
Metabolic Syndrome (CRMS) and CFTR Related Disorders (CFTR-RD)
Fadi Almhadin
Burjeel Oasis Medical Center, Abu Dhabi
Curr Pediatr Res, Volume 23
DOI: 10.4066/0971-9032-C1-012