Protein-energy malnutrition as the first manifestation of cystic fibrosis in infancy.

BACKGROUND: The protein-energy malnutrition (PEM) that is characterized by hypoproteinemia, edema, and anemia has been reported in 5-13% of infants with cystic fibrosis (CF). Due to the surprising higher incidence of PEM as the first presenting manifestation of CF in Macedonia, the aim of the present study was to evaluate the possible risk factors in its development. METHODS: Clinical and laboratory profiles (hemoglobin, red blood cell count, total serum protein, serum albumin and liver enzyme levels) and genotype data were analyzed in 115 newly diagnosed infants with CF, during the period 1990-2006. RESULTS: PEM manifested in 39 CF infants (33%), usually within the first 5 months of life and in breast-fed infants. Mean hemoglobin, red blood cell count, total serum protein and serum albumin values in the PEM subgroup were, respectively, 76.0 g/L, 2.4 x 10(12)/L, 38.0 g/L and 16.6 g/L. Clinically significant liver involvement was found in 22 patients (56.4%) with PEM. Concerning the molecular basis of CF in these patients, PEM was always associated with triangle upF508, G542X, N1303K and other severe mutations. CONCLUSION: PEM is a common manifestation of CF in infancy. Early infant age, breast-feeding, impaired liver function and the presence of severe cystic fibrosis transmembrane conductance regulator mutations are predisposing factors for the development of PEM.

Coping with Cystic Fibrosis in the Republic of Macedonia-Parent Perspective.

INTRODUCTION: Cystic fibrosis (CF) is a progressive, life-threatening, genetic disease which mainly damages the lungs and the digestive system. It's a complex medical condition, with several individual forms and variation in the symptoms severity. Few factors such as age of establishing the diagnosis, the number and the type of infections and their management, best treatment options, comorbid conditions etc. can influence the patient's overall health, disease progression and quality of life. Many CF patients will reach adulthood, so coping with the chronic disease is very important for the overall health and everyday living. AIM OF THE STUDY: To screen the quality of life in CF patients in the Republic of Macedonia, from the parent perspective. SUBJECTS AND METHODS: In the study we have included 55 parents of CF patients. We have created a questionnaire, specially designed for this survey, with questions related to their everyday coping with CF and quality of life. RESULTS: The majority of the parents refer to the overall typical social and emotional life of their children, addressing some difficulties concerning the financial aspect of the disease and still significantly having fear from the stigma in the society. CONCLUSION: CF patients and their families in the Republic of Macedonia must overcome many obstacles on daily basis. Despite that, they can still have full and meaningful lives.

Screening for liver disease in cystic fibrosis: analysis of clinical and genetic risk factors for its development.

This study analyzes the prevalence and the role of possible clinical and genetic risk factors for the development of cystic fibrosis (CF)-related liver disease (LD) in a Macedonian CF population. All patients older than three years (n=52) were screened for LD. LD was defined by the finding of hepatomegaly and/or splenomegaly, significant and persistent increase of at least two serum liver enzyme levels, suggestive ultrasonographic abnormalities (score >4), and morphologic or functional scintigraphic abnormalities. According to predefined criteria, 18 patients (34.6%) were classified as having LD, three of them with portal hypertension. A male predominance was found in the group with LD (72%). There was no significant difference in the pulmonary function, nutritional status, and in the prevalence of meconium ileus. Genetic analysis showed higher frequency of DeltaF508 mutation in the LD group (77.8%) vs. the no LD group (66.2%). All patients with LD had severe mutations: DeltaF508, G542X, N1303K, CFTRdel.21Kb, 1811+1G-->C, and Y1092X.