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1.
Infection ; 50(3): 671-679, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34874541

RESUMO

PURPOSE: To describe the clinical course of COVID-19 in patients with cystic fibrosis (CF) and to identify risk factors for severe COVID-19. METHODS: We conducted a prospective study within the Italian CF Society. CF centers collected baseline and follow-up data of patients with virologically confirmed SARS-CoV-2 infection between March 2020 and June 2021. Odds ratios (ORs) for severe SARS-CoV-2 (as defined by hospital admission) were estimated by logistic regression models. RESULTS: The study included 236 patients with positive molecular test for SARS-CoV-2. Six patients died, 43 patients were admitted to hospital, 4 admitted to intensive care unit. Pancreatic insufficiency was associated with increased risk of severe COVID-19 (OR 4.04, 95% CI 1.52; 10.8). After adjusting for age and pancreatic insufficiency, forced expiratory volume in one second (FEVp) < 40% (OR 4.54, 95% CI 1.56; 13.2), oxygen therapy (OR 12.3, 95% CI 2.91-51.7), underweight (OR 2.92, 95% CI 1.12; 7.57), organ transplantation (OR 7.31, 95% CI 2.59; 20.7), diabetes (OR 2.67, 95% CI 1.23; 5.80) and liver disease (OR 3.67, 95% CI 1.77; 7.59) were associated with increased risk of severe COVID-19, while use of dornase alfa was associated with a reduced risk (OR 0.34, 95% CI 0.13-0.88). No significant changes were observed in FEVp from baseline to a median follow-up of 2 months (median difference: 0, interquartile range: - 4; 5, P = 0.62). CONCLUSION: Clinical features indicative of severe form of CF are associated with increased risk of COVID-19 hospitalization. SARS-CoV-2 infected patients do not experience a deterioration of respiratory function.


Assuntos
COVID-19 , Fibrose Cística , Insuficiência Pancreática Exócrina , COVID-19/epidemiologia , Fibrose Cística/complicações , Insuficiência Pancreática Exócrina/complicações , Humanos , Itália/epidemiologia , Estudos Prospectivos , Fatores de Risco , SARS-CoV-2
2.
Pediatr Allergy Immunol ; 31 Suppl 26: 20-22, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33236425

RESUMO

Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disease caused by Aspergillus induced hypersensitivity that occurs in immunocompetent but susceptible patients with asthma and/or cystic fibrosis (CF). In children, ABPA remains mostly undiagnosed resulting in one of the most common causes of poorly controlled asthma and highly significant morbidity in children with CF. Currently, no specific diagnostic criteria of ABPA for children are available. Corticosteroids and itraconazole are the mainstays of therapy although there is a lack of randomized clinical trials regarding their usefulness for ABPA in children. Several monoclonal antibodies, such as omalizumab and mepolizumab, may be potential therapies for refractory ABPA in pediatric patients; however, further data are required to clarify the optimal dose and duration of therapy as a routine treatment approach.


Assuntos
Aspergilose Broncopulmonar Alérgica , Fibrose Cística , Antifúngicos/uso terapêutico , Aspergilose Broncopulmonar Alérgica/diagnóstico , Aspergilose Broncopulmonar Alérgica/tratamento farmacológico , Criança , Fibrose Cística/tratamento farmacológico , Humanos , Itraconazol , Omalizumab/uso terapêutico
3.
Ann Hepatol ; 14(6): 933-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26436368

RESUMO

Today the knowledge of genotype-phenotype correlation in cystic fibrosis is enriched by the growing discoveries of new mutations of the CFTR gene. Although the combination of two severe mutations usually leads to the classic disease (pulmonary and pancreatic insufficiency, sterility, nasal polyposis), the presence of a complex genotype characterized by severe and milder mutations or polymorphism can cause a hidden disease, which is often asymptomatic at early ages. We report on a case of a 15 years old boy, in whom the only clinical signs of CF were chronic hypertransaminasemia and hyperbilirubinemia, and in whom it was demonstrated the presence of the mutations F508del associated with TG11-9T-470M in one allele and TG12-5T-470V in the other allele. Although a clear genotype-phenotype correlation for liver disease is still missing for CF patients, it is possible to state that this isolated clinical presentation could represent an unusual phenotype of CF, related to a complex genotype characterized by a severe mutation and one (or more) polymorphism.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Hepatopatias/genética , Mutação , Adolescente , Fibrose Cística/diagnóstico , Fibrose Cística/terapia , Análise Mutacional de DNA , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Hepatopatias/diagnóstico , Hepatopatias/terapia , Masculino , Linhagem , Fenótipo
4.
Heart Lung Circ ; 24(10): 1002-10, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25911142

RESUMO

BACKGROUND: Cardiovascular involvement in Cystic Fibrosis (CF) is a not rare condition, although the prevalence of subclinical pulmonary hypertension (PH) and cardiac dysfunction is not known in the early stages of CF progression. The aim of our study was to assess cardiac involvement in children and adults affected by cystic fibrosis compared with healthy subjects of same age using echocardiography. METHODS: Fifty-five patients, 25 adults and 30 children completed the study. We assessed FEV1 (Forced Expiratory Volume in one second), and carried out colour Doppler-echocardiography evaluating ejection fraction (EF) measurement of left ventricle, tricuspid annular plane systolic excursion (TAPSE) of right ventricle and pulmonary artery pressure (PAP). We compared the auxological, respiratory and cardiologic data with those of 16 adults and 34 children of the same age. RESULTS: We discovered significantly different values of PAP between patients and controls in both children (p = 0.0001, r=- 0.62) and adults (p=0.0001, r=- 0.63), whereas the EF and TAPSE showed significantly different values in only adults (p=0.0023 and p=0.0194 respectively). We found in both children and adults with CF an inverse correlation between PAP and FEV1 (p=0.000, p=0.001), Erythrocyte Sedimentation Rate (ESR) and FEV 1 (p=0.015, r=- 0.43; p=0.009, r=- 0.51), and highly sensitive C-reactive protein (hs-CRP) and FEV 1 (p=0.007, r=- 0.48; p=0.001, r=- 0.60). In adults we also detected direct correlation between PAP and hs-CRP (p=0.008, r=0.51) and PAP and ESR (p=0.009, r=0.51). CONCLUSIONS: In paediatric-aged CF patients there are already early signs of potential heart impairment, represented by an increase of pulmonary blood pressure, and in adult age the systolic function of right ventricle may be impaired. We hypothesise that such cardiac impairments may gradually arise due to preceding chronic inflammation related to prior degeneration of lung function and thus it is very important to keep patients clinically stable and address chronic inflammation as early as possible in the progression of CF.


Assuntos
Fibrose Cística/fisiopatologia , Cardiopatias/fisiopatologia , Adolescente , Adulto , Fatores Etários , Pressão Arterial , Sedimentação Sanguínea , Proteína C-Reativa/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Fibrose Cística/complicações , Ecocardiografia Doppler em Cores , Feminino , Volume Expiratório Forçado , Cardiopatias/complicações , Cardiopatias/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Artéria Pulmonar , Volume Sistólico , Adulto Jovem
5.
Cancers (Basel) ; 15(17)2023 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-37686519

RESUMO

Cystic fibrosis (CF) is a genetic disorder affecting multiple organs, primarily the lungs and digestive system. Over the years, advancements in medical care and treatments have significantly increased the life expectancy of individuals with CF. However, with this improved longevity, concerns about the potential risk of developing certain types of cancers have arisen. This narrative review aims to explore the relationship between CF, increased life expectancy, and the associated risk for cancers. We discuss the potential mechanisms underlying this risk, including chronic inflammation, immune system dysregulation, and genetic factors. Additionally, we review studies that have examined the incidence and types of cancers seen in CF patients, with a focus on gastrointestinal, breast, and respiratory malignancies. We also explore the impact of CFTR modulator therapies on cancer risk. In the gastrointestinal tract, CF patients have an elevated risk of developing colorectal cancer, pancreatic cancer, and possibly esophageal cancer. The underlying mechanisms contributing to these increased risks are not fully understood, but chronic inflammation, altered gut microbiota, and genetic factors are believed to play a role. Regular surveillance and colonoscopies are recommended for early detection and management of colorectal cancer in CF patients. Understanding the factors contributing to cancer development in CF patients is crucial for implementing appropriate surveillance strategies and improving long-term outcomes. Further research is needed to elucidate the molecular mechanisms involved and develop targeted interventions to mitigate cancer risk in individuals with CF.

6.
Genes (Basel) ; 14(2)2023 02 09.
Artigo em Inglês | MEDLINE | ID: mdl-36833376

RESUMO

BACKGROUND: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators represent targeted therapies directly acting on the CFTR channel. The triple therapy Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) has been demonstrated to improve lung function and quality of life in cystic fibrosis (CF) patients. However, the effects of ELX/TEZ/IVA on sleep-disordered breathing (SDB) and respiratory muscle strength are poorly studied. The aim of this study was to assess the effects of ELX/TEZ/IVA in patients with CF and severe lung disease on cardiorespiratory polygraphy parameters, maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) measures. METHODS: patients with CF aged ≥ 12 who started treatment in a compassionate use program were retrospectively studied through the evaluation of nocturnal cardiorespiratory polygraphy parameters, MIP and MEP; and six-minute walk test (6MWT) at baseline and at months 3, 6, and 12 of treatment. RESULTS: Nine patients (mean age 30.3 ± 6.5 years) with severe CF (mean baseline ppFEV1 34.6 ± 5.1%) were evaluated. A significant improvement in nocturnal oxygenation measured by mean SpO2 (92.4 vs. 96.4%, p < 0.05), time spent with SpO2 ≤ 90% (-12.6, -14.6, -15.2 min from baseline at months 3, 6, and 12, respectively, p < 0.05), and respiratory rate (RR) was shown, at month 12 and across the time points compared with baseline, as well as in respiratory muscle strength, although only the change in MEP was significant. CONCLUSIONS: We provide further evidence on the efficacy of the CFTR modulators ELX/TEZ/IVA, adding information about their effect on the respiratory muscles' performance and cardiorespiratory polygraphy parameters in CF patients with severe lung disease.


Assuntos
Fibrose Cística , Humanos , Adulto Jovem , Adulto , Regulador de Condutância Transmembrana em Fibrose Cística , Qualidade de Vida , Taxa Respiratória , Estudos Retrospectivos , Músculos Respiratórios , Pulmão
7.
Pediatr Pulmonol ; 58(4): 1085-1091, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36593591

RESUMO

BACKGROUND: Asthma guidelines have recommended continuing treatment with biologics during coronavirus disease 2019 (COVID-19) pandemic. However, a continuation of treatment with biologics in patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been little investigated. OBJECTIVE: To assess the safety of biologics in patients with SARS-CoV-2 infection. METHODS: A pilot, monocentric, prospective study. Patients aged 6 years old and older with severe asthma on treatment with biologics and confirmed SARS-CoV-2 infection were enrolled. Patients were followed-up with periodic calls at different time points up to 3 months to detect any adverse effect and its relationship with biologic treatment according to the Naranjo Adverse Probability Scale (NAPS). The severity of SARS-CoV-2 infection and clinical outcome were also assessed. RESULTS: Overall, we included 21 patients (10 on therapy with omalizumab, 9 with dupilumab, and 2 with mepolizumab). Only a patient-reported two local adverse events. No other adverse event was reported. Twenty out of 21 patients had a mild COVID-19 course, and no adverse outcome was observed. CONCLUSION: We showed that the scheduled dose of the biologic therapy can be administered safely on time in patients with SARS-CoV-2 infection, as the treatment did not result in adverse events or outcomes.


Assuntos
Asma , Produtos Biológicos , COVID-19 , Humanos , Criança , COVID-19/complicações , SARS-CoV-2 , Estudos Prospectivos , Asma/complicações , Asma/tratamento farmacológico , Produtos Biológicos/efeitos adversos
8.
Eur Respir Rev ; 31(165)2022 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-35896271

RESUMO

BACKGROUND: Aspergillus fumigatus is a common saprophytic fungus causing allergic bronchopulmonary aspergillosis (ABPA) in patients with cystic fibrosis (CF). The recommended first-line treatment for ABPA is oral steroids, followed by antifungal therapy. However, both treatments are not free from adverse effects; thus, efforts are being made to identify new drugs showing the same effectiveness but with fewer or no side-effects. Therein, biologic drugs have been significantly implemented in clinical practice in treating ABPA in patients with CF. OBJECTIVE: To systematically review the available literature, providing evidence for the administration of biologic drugs as a new potential treatment of ABPA in both the paediatric and adult populations with CF. METHODS: A systematic review of the literature published between January 2007 and July 2021 was performed, using a protocol registered with the International Prospective Register of Systematic Reviews (PROSPERO CRD42021270932). RESULTS: A total of 21 studies focusing on the use of biologics in treating ABPA in CF patients was included. We highlighted a paucity of data providing evidence for biologic drug use in ABPA. CONCLUSION: Scientific evidence is insufficient to support firm conclusions and randomised clinical trials are urgently required to investigate the efficacy and safety of biologics for ABPA in CF patients.


Assuntos
Aspergilose Broncopulmonar Alérgica , Produtos Biológicos , Fibrose Cística , Adulto , Criança , Humanos , Antifúngicos/efeitos adversos , Aspergilose Broncopulmonar Alérgica/tratamento farmacológico , Produtos Biológicos/efeitos adversos , Fibrose Cística/complicações
9.
Acta Biomed ; 93(5): e2022295, 2022 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-36300234

RESUMO

Background Cystic fibrosis related diabetes is a complication of cystic fibrosis (CF). Aim of our study was to evaluate the effects of insulin therapy in overt diabetics or pre-diabetics CF patients on BMI and respiratory function.  Methods  We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 CF control patients  with normal glucose metabolism (Group C). Group T was also subdivided into overt diabetic patients and pre-diabetic patients (IGT, INDET). For  treated patients an observation period was established from the first insulin administration to 12 months. For control patients, a comparable year of observation was chosen. Data regarding BMI, FVC, FEV1 and PEF were collected at time 0, and at time 12. The number of hospital admissions for infectious episodes during the year of observation and during the preceding year were recorded for  Group T patients. Results The results showed a significant increase in BMI in treated patients compared to control, specially for overt diabetics. The study of spirometric parameters showed a significant improvement of PEF, the main effort-dependent respiratory index, specially for over diabetics, suggesting a hypothetical positive impact of the insulin anabolic action on the magnitude of expiratory effort. In contrast, the study of infectious episodes revealed a significant reduction of hospital admissions in pre diabetic treated patients.  Conclusion Overall, our study focuses on the importance of glycemic monitoring during the early stages of CF disease and on the advantage of insulin treatment in the early stages of glucose alteration .


Assuntos
Fibrose Cística , Diabetes Mellitus , Humanos , Fibrose Cística/complicações , Fibrose Cística/tratamento farmacológico , Estudos Retrospectivos , Teste de Tolerância a Glucose , Insulina/uso terapêutico , Diabetes Mellitus/tratamento farmacológico , Glucose
10.
Med Hypotheses ; 147: 110481, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33421691

RESUMO

Coronavirus disease 2019 (COVID-19) caused more than 52.775.271 million confirmed cases, 1.293.106 deaths, globally, and afflicted 208 countries, areas, or territories; and almost three months have passed since the World Health Organisation (WHO) declared COVID-19 as a pandemic. Despite the dramatic and global impact of the Coronavirus, the knowledge about the SARS-CoV-2 infection has been improved remarkably. Herein, we provided the rationale for SARS-CoV-2 infection as endothelial dysfunction rather than respiratory disease. Accordingly, we strongly invited the researchers to look beyond pulmonary injury and shift their attention from respiratory disease to endothelial disorder. This strategy could be particularly relevant to identifying therapeutic weapons stabilizing the endothelium rather than the lungs.


Assuntos
Tratamento Farmacológico da COVID-19 , COVID-19/complicações , Fibrose Cística/complicações , Fibrose Cística/tratamento farmacológico , Pneumopatias/complicações , Pneumopatias/tratamento farmacológico , Anticorpos Monoclonais Humanizados/uso terapêutico , Antivirais/uso terapêutico , Estado Terminal , Endotélio Vascular/metabolismo , Humanos , Inflamação , Pulmão , Pandemias
11.
Acta Biomed ; 92(2): e2021164, 2021 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-33988138

RESUMO

BACKGROUND AND AIM: In patients with cystic fibrosis (CF) non-invasive ventilation (NIV) improves lung mechanics and gas exchange, and decreases the work of breathing. Domiciliary NIV is mainly used in hypercapnic patients with severe disease, because it counteracts the progression of lung functional impairment and it is often used as a useful "bridge" to lung transplantation. However, to date, there are no standardized criteria to indicate the effect of a precocious starting of NIV in patients with functional ventilation inhomogeneity without hypercapnia. In this pilot study we assessed whether an early NIV treatment might influence functional and clinical outcomes in CF patients. METHODS: Six normocapnic CF patients were treated for one year with NIV. At baseline and after 1 year of NIV treatment, arterial gas analysis, spirometry, MBW to derive LCI, nocturnal cardio-respiratory polygraphy (PG), and Pittsburgh Sleep Quality Index (PSQI) were perfomed in all enrolled patients. RESULTS: After one year, despite spirometric and LCI values remain statistically not modified, the number of infectious exacerbations was reduced by 50%. CONCLUSIONS: These results suggest that nocturnal NIV improves clinical conditions of stable CF patients. Finally, we suggest that this procedure can be useful to counteract the progression of lung disease even in normocapnic patients.


Assuntos
Fibrose Cística , Ventilação não Invasiva , Fibrose Cística/complicações , Fibrose Cística/terapia , Humanos , Hipercapnia , Pulmão , Projetos Piloto
12.
World J Gastroenterol ; 26(41): 6322-6334, 2020 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-33244195

RESUMO

Gastroesophageal reflux disease (GERD) is a common gastrointestinal disorder in cystic fibrosis (CF), and based on various studies, its prevalence is elevated since childhood. There are several pathogenetic mechanisms on the basis of association between CF and GERD. However, there are no specific guidelines for GERD in CF patients, so diagnosis is based on guidelines performed on patients not affected by CF. The aim of this review is to provide the pathophysiology, diagnostic and therapeutic options, complications, and future directions in the management of GERD patients with CF.


Assuntos
Fibrose Cística , Refluxo Gastroesofágico , Criança , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Fibrose Cística/epidemiologia , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/epidemiologia , Refluxo Gastroesofágico/terapia , Humanos , Prevalência
14.
Immunobiology ; 222(3): 582-586, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28012584

RESUMO

Fecal calprotectin (FC) is used to asses the presence of intestinal inflammation also in patients with Cystic Fibrosis (CF) and recent studies showed a correlation between bowel and lung disease in these patients. The aim of this study was to analyze the levels of FC in CF and correlate them with different phenotypes of disease. We enrolled a cohort of 54 CF patients and 50 healthy controls. In these patients, calprotectin has been assayed on a stools sample using an ELISA kit. In all patients we analyzed, FC levels were elevated above the cut-off value and significantly higher than in healthy controls. Among CF patients, FC was significantly higher in patients older than 18 years, with pancreatic insufficiency, underweight status, Pseudomonas Aeruginosa airways colonization, CF-related diabetes mellitus, reduced lung function, or high number of pulmonary exacerbations. These results suggest that in patients with CF, FC levels are not only influenced by the CF enteropathy but also by the severity of the genetic disease. Since we found higher FC levels in patients with a severe phenotype (P. Aeruginosa airways colonization, FEV1<50% of predicted, pancreatic insufficiency, underweight status,) we suggest that this marker could be useful to monitor longitudinally a clinical worsening.


Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/metabolismo , Complexo Antígeno L1 Leucocitário/metabolismo , Adolescente , Adulto , Biomarcadores , Criança , Pré-Escolar , Comorbidade , Progressão da Doença , Fezes/química , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Fenótipo , Prognóstico , Testes de Função Respiratória , Índice de Gravidade de Doença , Adulto Jovem
15.
J Cyst Fibros ; 15(5): 583-6, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26778616

RESUMO

BACKGROUND: YKL-40 is a chitinase-like protein present in serum of healthy subjects and its levels are increased in several human inflammatory diseases. The aim of this study was to evaluate the levels of both serum and sputum YKL-40 in cystic fibrosis (CF) patients. METHODS: Serum and sputum YKL-40 levels were measured in a cohort of twenty-eight patients with a diagnosis of CF and twenty healthy controls. RESULTS: Serum YKL-40 levels were significantly higher in CF patients (88.8±56.7 vs 18.6±2.9ng/ml, P<0.001), as well as sputum YKL-40 levels (138.5±132.7 vs 28.2±24.34, P<0.001) than in healthy controls. Serum YKL-40 levels were closely related to YKL-40 levels assessed in sputum samples (r=0.71; P<0.01). CONCLUSIONS: YKL-40 is elevated in CF patients and is further elevated during severe exacerbations. Longitudinal studies in infant are needed to establish its role in disease pathogenesis.


Assuntos
Proteína 1 Semelhante à Quitinase-3/sangue , Fibrose Cística , Pneumopatias , Escarro/metabolismo , Adolescente , Adulto , Biomarcadores/sangue , Biomarcadores/metabolismo , Criança , Fibrose Cística/sangue , Fibrose Cística/fisiopatologia , Progressão da Doença , Feminino , Humanos , Pneumopatias/sangue , Pneumopatias/etiologia , Pneumopatias/fisiopatologia , Masculino , Reprodutibilidade dos Testes , Testes de Função Respiratória/métodos , Índice de Gravidade de Doença , Estatística como Assunto , Exacerbação dos Sintomas
19.
J Med Case Rep ; 7: 188, 2013 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-23883480

RESUMO

INTRODUCTION: Recent studies suggest an important role of the cystic fibrosis transmembrane conductance regulator gene in the development of pancreatitis. It occurs approximately in 20% of patients with cystic fibrosis and almost exclusively in pancreatic sufficient people. Newborn screening and improved panels of deoxyribonucleic acid mutation analysis techniques are revealing more rare and nonclassical pictures of the disease, generally associated with pancreatic sufficiency and with an increased risk of developing pancreatitis. Mutations R1438 and Y1032 are considered rare mutations, and, when singularly associated with ∆F508, lead to a mild phenotype with pancreatic sufficiency and no detectable respiratory involvement. CASE PRESENTATION: We present the case of a Caucasian girl, aged six years, whose genotype was characterized by three different mutations ∆F508, R1438W and Y1032C, never reported, together, in the same patient. She presented with a positive immunoreactive trypsinogen screening, a borderline sweat test, and, in the first years, a favorable pulmonary course, and pancreatic sufficiency. At the age of six years, she presented with a sudden episode of acute abdominal pain, anorexia and fever. A diagnosis of pancreatitis was made after clinical and laboratory examinations. Venous rehydration, bowel rest and therapy with ursodeoxycholic acid resulted in complete remission.The treatment was successful, with normalization of her symptoms and laboratory parameters within four weeks. CONCLUSION: There has been a vast expansion in the understanding of the wide range of phenotypes associated with cystic fibrosis transmembrane conductance regulator dysfunction since the discovery of the cystic fibrosis transmembrane conductance regulator gene. The genotype-phenotype correlation in pancreatitis is rare compared to other organ manifestations, since this is seen almost exclusively among pancreatic sufficient patients with cystic fibrosis. Our study supports that compound heterozygosis ∆F508-R1438W/Y1032C is a 'cystic fibrosis-causing genotype' characterized by an immunoreactive trypsinogen positive screening, abnormal sweat chloride testing, and pancreatic sufficiency, with an increased risk of acute pancreatitis at an early age.

20.
J Med Case Rep ; 7: 253, 2013 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-24199610

RESUMO

INTRODUCTION: We report an interesting clinical case which could represent a new syndrome never described previously in the literature. CASE PRESENTATION: A 15-year-old Caucasian boy presented to our institution with recurrent respiratory infections, severe atopic dermatitis, short stature and skeletal malformations. Laboratory tests showed a high level of immunoglobulin E, hypereosinophilia with a normal white blood cell count and a low level of somatomedin C. The patient had had atopic dermatitis resistant to treatment since the age of 6 months. His height did not increase despite receiving cyclic therapy with recombinant growth hormone. CONCLUSION: We hypothesized the presence of several diseases not confirmed by any genetic tests. Our patient could have an unknown disease. Further research is needed to identify this possible new syndrome.

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