No abstract

Cystic fibrosis (CF) is the most common recessive autosomal disease among Caucasian. Children with CF have benefitted from advances in medical and nutritional treatments, and this can be gleaned from the improvement in the survival of these patients. The increase in the survival rate brought with it the appearance of co-morbidities related to CF. Nowadays cystic fibrosis-related diabetes (CFRD) is considered the most common complication associated with CF. It can appear as early as infancy or adolescence, and its prevalence can be as high as 50% in adult patients. Because of its high prevalence, difficulties in early detection and the risks involved, in recent years several studies and consensuses have focused on this condition, adding information about the epidemiology, pathophysiology, prognosis and treatment of CFRD. The main aspects of these new concepts, as well as the current recommendations for its diagnosis and follow-up, will be presented in this study.

The prevalence of CFRD in our patients is high, similar to the data from Caucasian populations, and significantly higher than previously reported in Brazil. Screening with OGTT resulted in earlier diagnosis of CFRD by 8 yr. These data may help convince national CF centers that CFRD is frequent, and that screening should be mandatory.

OBJECTIVE: To analyze pulmonary function parameters and pharmacodynamic response to a bronchodilator, as well as the prescription of bronchodilators, in cystic fibrosis (CF) patients. METHODS: This was a retrospective cohort study involving patients 6-18 years of age, diagnosed with CF, and followed at a referral center between 2008 and 2010. We evaluated only those patients who were able to perform pulmonary function tests (PFTs). We analyzed FVC, FEV1, and FEF25-75%, expressed as percentages of the predicted values, prior to and after bronchodilator tests (pre-BD and post-BD, respectively), in 312 PFTs. Repeated measures ANOVA and multiple comparisons were used. RESULTS: The study included 56 patients, divided into two groups: those whose PFT results spanned the 2008-2010 period (n = 37); and those whose PFT results spanned only the 2009-2010 period (n = 19). In the 2008-2010 group, there were significant reductions in post-BD FEV1 between 2008 and 2010 (p = 0.028) and between 2009 and 2010 (p = 0.036), as was also the case for pre-BD and post-BD FEF25 75% in all multiple comparisons (2008 vs. 2009; 2008 vs. 2010; and 2009 vs. 2010). In the 2009-2010 group, there were no significant differences between any of the years for any of the variables studied. Among the 312 PFTs, significant responses to the bronchodilator occurred in only 24 (7.7%), all of which were from patients for whom no bronchodilator had been prescribed during the study period. CONCLUSIONS: In the CF patients studied, there was loss of pulmonary function, indicating progressive lung disease, over time. The changes were greater for FEF25-75% than for the other variables, which suggests the initial involvement of small airways.

Kwashiorkor como manifestação precoce em lactente com fibrose cística Kwashiorkor as early clinical manifestation in a baby with cystic fibrosis IntroduçãoFibrose Cística (FC) é a doença genética autossômica recessiva mais comum na população de origem caucasiana, afetando 1 em 2000 e 1 em 4500 RN de acordo com diferentes áreas geográficas. 1 A incidência da doença é muito menor nas populações não caucasianas.No Brasil, país de heterogeneidade racial, a incidência real da doença ainda é desconhecida, devido à inexistência de amplos estudos epidemiológicos e screening neonatal.As principais características da FC são malabsorção devido à insuficiência pancreática exócrina, infecções recorrentes do trato respiratório inferior, perda aumentada de sal no suor e infertilidade masculina devido à agenesia ou atresia dos vasos deferentes.O diagnóstico é baseado em sintomas compatíveis e em 2 testes de suor com resultados maiores que 60 mEq de Cloro por litro. A maioria dos pacientes manifestam a doença na infância, mas 8% manifestam na adolescência ou na vida adulta.O diagnóstico diferencial depende da idade e da forma de apresentação. Os mais comuns incluem falência do desenvolvimento, bronquite, asma e sinusite. 2 ResumoOs autores relatam um caso de Fibrose Cística com manifestações de Kwashiorkor (edema, hipoalbuminemia e anemia) em lactente, uma apresentação pouco freqüente e facilmente atribuí-da às condições sócio-econômicas da população.Este quadro clínico tem sido classicamente considerado como marcador para um curso severo da doença pulmonar durante o primeiro ano de vida.A presença de insuficiência pancreática severa está correlacionada ao genótipo DF508 homozigótico, porém a colonização e infecção precoces por patógenos como Staphylococcus aureus e Pseudomonas aeruginosa evidenciados neste lactente requerem maiores estudos para elucidação.A Fibrose Cística é a doença genética mais comum na população caucasiana, e o diagnóstico precoce tem implicacões no prognóstico. ). 1994; 70(4):243-246: fibrose cística, Kwashiorkor, Pseudomonas aeruginosa, Staphylococcus aureus. J. pediatr. (Rio SummaryA case of Cystic Fibrosis in a baby presenting Kwashiorkor (edema, hypoalbuminemia and anemia ) is described. This is a very unusual presentation, easily atributed to unfavourable socio-economic conditions of the population, and classically considered a marker for severe pulmonary disease during the first year of life.Presence of severe pancreatic insufficiency is related to genotype DF508 (homozygote) but colonization and early infection with Staphylococcus aureus and Pseudomonas aeruginosa in this baby requires further study.Cystic Fibrosis is the most frequent genetic disease among Caucasians, and early diagnosis has prognostic implications, agreed upon by all. ). 1994; 70(4):243-246: cystic fibrosis, Kwashiorkor, Pseudomonas aeruginosa, Staphylococcus aureus. J. pediatr. (Rio