Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome

Abstract

An unavoidable outcome of cystic fibrosis newborn screening (CF NBS) programs is the detection of infants with an indeterminate diagnosis. The United States CF Foundation recently proposed the term cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) to describe infants with elevated immunoreactive trypsinogen (IRT) on NBS who do not meet diagnostic criteria for CF. The objective of this study was to describe the clinical outcomes of infants with CRMS identified through an IRT/DNA algorithm. We reviewed the records of all infants with CRMS diagnosed at our CF Center from 2002 to 2010. We identified 12 infants, and compared them to 27 infants diagnosed with CF by NBS. Compared to CF patients, CRMS patients were more likely to be pancreatic sufficient as assessed by fecal elastase measurement (100% vs. 8%, P < 0.01). Their weight for age percentile was normal from birth. A positive oropharyngeal (OP) culture for Pseudomonas aeruginosa (Pa) was found in 25% of CRMS patients. One patient with the F508del/R117H/7T genotype was reassigned the diagnosis of CF after he had a positive OP culture for Pa, and his follow up sweat Cl at 1 year of life was 73 mmol/L. CF patients were more likely to receive oral antibiotics and be hospitalized for pulmonary symptoms. Our results indicate that CRMS patients can develop signs of CF disease, but have a milder clinical course than CF infants. Close initial monitoring of these patients is warranted. Pediatr. Pulmonol. 2011; 46:1079-1084. © 2011 Wiley Periodicals, Inc.

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

“…This condition is characterized by a borderline sweat test result along with the detection of up to two cystic fibrosis transmembrane conductance regulator mutations and has been associated with a milder clinical course. 25 Similarly, BD screening resulted in the diagnosis of partial BD, the latter considered clinically less severe. 26 Other more uncommon disorder variants and nonspecific categories, such as "other" amino acid/ organic acid/fatty acid oxidative disorders, are included in the Supplementary Table S1 online.…”

How holistic nursing can enhance the quality of life of children with cystic fibrosis

“…It affects exocrine glands, impacting upon sweat production and regulation, the gastro-intestinal tract, most notably the pancreas, and reproductive systems; lung disease continues to be the major cause of morbidity and mortality (Ren et al 2011). CF is caused by mutations of a gene in chromosome 7 that encodes amino acid protein 1480, the cystic fibrosis transmembrane conductance regulator (CFTR) protein (Peckham et al 2006).…”

“…The normal CFTR gene functions as a controlled chloride channel, which may then adjust the activity of other chloride and sodium channels at the cell surface (Ren et al 2011, Mayall et al 2009 to produce a watery mucous which protects the linings of involved organs, enabling bacteria excretion (Cystic Fibrosis Trust 2011). People with CF, however, have irregular transport of chloride and sodium across the respiratory epithelium, resulting in thickened, viscous airway secretions (Ratjen 2003), trapping harmful bacteria, causing lower respiratory infections (Cystic Fibrosis Trust 2011).…”

“…Treatment for CF is dependent upon the nature of the gene mutation type and extent of symptoms and organs affected by the disease (Ren et al 2011); it primarily aims to maintain optimal health and reduce lung infection risks and malnutrition (Mayall et al 2009). Pancreaticenzyme supplements are required for those with pancreatic insufficiency as well as a high calorie diet, due to their body's inability to absorb fat (Ren et al 2011).…”

“…One of the most common life limiting, genetically inherited conditions affecting Caucasians, CF is a multisystem, autosomal, recessive inherited disorder (Ren et al 2011, Winter 2010. It affects exocrine glands, impacting upon sweat production and regulation, the gastro-intestinal tract, most notably the pancreas, and reproductive systems; lung disease continues to be the major cause of morbidity and mortality (Ren et al 2011).…”