Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.

Through early detection, newborn screening (NBS)(1) for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.

Management of infants with cystic fibrosis: a summary of the evidence for the cystic fibrosis foundation working group on care of infants with cystic fibrosis.

OBJECTIVE: To inform the development of Cystic Fibrosis (CF) Foundation guidelines on the care of infants with CF, we systematically reviewed the evidence for diagnosis and assessment of pancreatic and pulmonary disorders; management of pancreatic and pulmonary function; management of nutrition and nutritional disorders; and prevention and control of infections. STUDY DESIGN: In May-June 2008, we searched The Cochrane Library for existing reviews; and MEDLINE, the National Guideline Clearinghouse, the CF Foundation Clinical Practice Guidelines and Consensus Statements, and the UK CF Trust for existing guidelines. MEDLINE, Cumulative Index to Nursing and Allied Health Literature (CINAHL) and the Excerpta Medica Database (EMBASE) were searched for primary studies in January 2008. Bibliographies of eligible articles were searched and expert input was sought. We selected English-language articles of any study design that provided original data on any of our questions on infants up to 2 years of age. RESULTS: We identified 14 relevant guidelines and 3 Cochrane reviews. Fifty-nine articles (55 primary studies) were included. Only four of these were randomized controlled trials. Sample sizes of infants ranged from 2 to 768 study participants; the median sample size was 24. Of our 21 review topics, 5 topics had only one study while for 5 we identified no relevant studies. We identified one or no primary studies for 20 of 32 review questions. CONCLUSIONS: There is a paucity of evidence on the care of infants diagnosed with CF. For several of the review questions no guidelines or primary studies were identified, but for other questions, studies limited by weak design and small sample sizes were the only studies identified. With increasing numbers of infants with CF being diagnosed by newborn screening there is an opportunity to study the management of infants diagnosed with CF.

Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.

Newborn screening for cystic fibrosis (CF) offers the opportunity for early medical and nutritional intervention that can lead to improved outcomes. Management of the asymptomatic infant diagnosed with CF through newborn screening, prenatal diagnosis, or sibling screening is different from treatment of the symptomatically diagnosed individual. The focus of management is on maintaining health by preventing nutritional and respiratory complications. The CF Foundation convened a committee to develop recommendations based on a systematic review of the evidence and expert opinion. These guidelines encompass monitoring and treatment recommendations for infants diagnosed with CF and are intended to help guide families, primary care providers, and specialty care centers in the care of infants with CF.