Cystic fibrosis: a diagnosis in an adolescent

2021 ◽  
Vol 14 (11) ◽  
pp. e245971
Author(s):  
Monica Bennett ◽  
Andreia Filipa Nogueira ◽  
Maria Manuel Flores ◽  
Teresa Reis Silva
Keyword(s):  
Cystic Fibrosis ◽  
Inhaled Corticosteroids ◽  
Clinical Manifestations ◽  
Gastrointestinal Symptoms ◽  
Sweat Test ◽  
Oral Antibiotic ◽  
Atypical Symptoms ◽  
Oral Antibiotic Therapy ◽  
Long Acting ◽  
First Year Of Life

Most patients with cystic fibrosis (CF) develop multisystemic clinical manifestations, the minority having mild or atypical symptoms. We describe an adolescent with chronic cough and purulent rhinorrhoea since the first year of life, with diagnoses of asthma, allergic rhinitis and chronic rhinosinusitis. Under therapy with long-acting bronchodilators, antihistamines, inhaled corticosteroids, antileukotrienes and several courses of empirical oral antibiotic therapy, there was no clinical improvement. There was no reference to gastrointestinal symptoms. Due to clinical worsening, extended investigations were initiated, which revealed Pseudomonas aeruginosa in sputum culture, sweat test with a positive result and heterozygosity for F508del and R334W mutations in genetic study which allowed to confirm the diagnosis of CF. In this case, heterozygosity with a class IV mutation can explain the atypical clinical presentation. It is very important to consider this diagnosis when chronic symptoms persist, despite optimised therapy for other respiratory pathologies and in case of isolation of atypical bacterial agents.

scholarly journals Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Friederike Wilbert ◽  
Sarah C. Grünert ◽  
Andrea Heinzmann ◽  
Sebastian F. N. Bode
Keyword(s):  
Cystic Fibrosis ◽  
Systemic Disease ◽  
Gastrointestinal Symptoms ◽  
Chloride Concentration ◽  
Failure To Thrive ◽  
Sweat Test ◽  
Upper Airways ◽  
Inborn Errors ◽  
Hepatic Involvement ◽  
Number Of Patients

Abstract Background Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia can occur in a significant number of patients, although hepatomegaly is uncommon. Case presentation A 28 months old boy was presented with recurrent upper airways infections, progressive lethargy and weight loss. Clinically hepatomegaly was the main presenting feature and hypoglycemia (minimum 1.4 mmol/l) was noted as were elevated transaminases. The patient did not produce enough sweat to analyze it. Infectious causes for hepatitis were excluded and a broad metabolic work-up initiated. A therapy with starch was initiated to control hypoglycemia. In further course loose stools were reported and pancreatic elastase was found to be reduced. A further sweat test yielded pathological chloride concentration and genetic testing confirmed the diagnosis of cystic fibrosis. Conclusions Cystic fibrosis is a systemic disease and less common presentations need to be considered. Even in the age of CF-newborn screening in many countries CF needs to be ruled out in typical and atypical clinical presentations and diagnostics need to be repeated if inconclusive.

Características clínicas y epidemiológicas de pacientes pediátricos con fibrosis quística en Panamá, de Enero 2008 a Diciembre 2017

2020 ◽  
pp. 4-12
Author(s):  
Ana Karina Coronado ◽  
Ricardo A Chanis ◽  
Luis Coronado
Keyword(s):  
Cystic Fibrosis ◽  
Respiratory Infections ◽  
Genetic Defect ◽  
Clinical Manifestations ◽  
Case Fatality ◽  
Failure To Thrive ◽  
City Hospital ◽  
Age Of Diagnosis ◽  
First Year Of Life ◽  
Epidemiological Characteristics

Introducción.La presente investigación plantea como objetivo principal, describir las características clínicas y epidemiológicas de la fibrosis quística (FQ) en Panamá, que nos permiten hacer el diagnóstico temprano y dar a conocer las características bioquímicas, fenotípicas y morbilidades asociadas para así poder mejorar las necesidades de los pacientes con esta enfermedad. Materiales y métodos. Se realizó un estudio retrospectivo de los pacientes con diagnóstico de fibrosis quística entre el mes de enero 2008 a diciembre 2017, en los hospitales en Ciudad de Panamá: Hospital del Niño Dr. José Renán Esquivel, Hospital de Especialidades Pediátricas y en Chiriquí Hospital José Domingo de Obaldía previa aprobación de las autoridades correspondientes.Se analizaron las características demográficas, fenotípicas, resultados bioquímicos, complicaciones y tratamiento de pacientes con diagnóstico de Fibrosis quística. Mediante un diseño descriptivo, se analizó la información de las mismas.Resultados.El promedio de edad para el diagnóstico de fibrosis quística fue de 2.8 años. El 52% correspondía a sexo masculino y 48% a sexo femenino. El promedio de hospitalización previo al diagnóstico de Fibrosis quística fue de 3.8. En el 72 % de los pacientes los primeros síntomas aparecieron antes del primer año de vida.En la mayoría de los pacientes las manifestaciones clínicas fueron una combinación de síntomas gastrointestinales y/o nutricionales y respiratorios (96 y 92% respectivamente).En el 44% de los pacientes se realizó examen genético molecular. De acuerdo con la clasificación del defecto genético, el 20 % de los pacientes eran del grupo delta F 508. La edad promedio de sobrevida es 8.2, años. Durante el período 2008-2017 se registraron 6 defunciones de pacientes con fibrosis quística, lo que corresponde a una tasa de letalidad del 22%.Conclusiones.Los resultados de nuestro estudio mostraron condiciones tales como falla de medro, infecciones respiratorias recurrentes, esteatorrea como la forma de presentación clínica más frecuente. Encontramos correlación con la literatura con la presencia de manifestaciones respiratorias asociadas a compromiso nutricional. El genotipo no se hace a todos los pacientes, reconociendo la importancia de esta valoración por la disponibilidad y costos de las pruebas genéticas. A pesar del diagnóstico temprano, nuestros pacientes cursan con compromiso nutricional importante. En los últimos años se ha evidenciado una media de edad de diagnóstico más temprana comparada con años anteriores. Es necesaria la estandarización de pruebas diagnósticas y de seguimiento, puesto que no todos los pacientes cumplen en su totalidad con los criterios diagnósticos. En la actualidad, un alto índice de sospecha clínica es obligatorio para su detección e intervención inmediata del tratamiento hasta actualización de las instalaciones de diagnóstico. Abstract Introduction .The main objective of the present investigation is to describe the clinical and epidemiological characteristics of cystic fibrosis (CF) in Panama, which allow us to make a nearly diagnosis and make known the biochemical, phenotypic and associated morbidities in order to improve the needs of the patients with this disease. Materials and methodsA retrospective study of patients diagnosed with cystic fibrosis was conducted between January 2008 and December 2017, in hospitals in Panama City: Hospital del Niño Dr. José Renán Esquivel, Hospital de Especialidades Pediátricas Omar Torrijos Herrera and Hospital José Domingo de Obaldía, upon approval of the corresponding authorities. We analyzed the demographic, phenotypic characteristics, biochemical results, complications and treatment of patients diagnosed with Cystic Fibrosis. Through a descriptive design, the information of them was analyzed. Results. The average age for the diagnosis of cystic fibrosis was of 2.8 years, 52% corresponded tomale and 48% female. The average number of hospitalizations prior tothe diagnosis of cystic fibrosis was 3.8. In 72% of the patients the first symptoms appeared before the first year of life. In the majority of patients, the clinical manifestations were a combination of gastrointestinal and / or nutritional and respiratory symptoms (96 and 92% respectively). Molecular genetics examination was performed in 44% of the patients. According to the classification of the genetic defect, 20% of the patients were from the delta F 508 group. The average age of survival is 8.2 years. During the period 2008-2017 there were 6 deaths of patients with cystic fibrosis, which corresponds to a case-fatality rate of 22%.Conclusions.The results of our study showed conditions such as failure to thrive, recurrent respiratory infections, steatorrhea as the most frequent form of clinical presentation. We found correlation with the literature with the presence of respiratory manifestation associated with nutritional compromise. The genotype is not made to all patients, recognizing the importance of assessing the availability and costs of genetictesting. Despite early diagnosis, our patients have an important nutritional commitment. In recenty ears there is evidence of a lower age of diagnosis earlier compared with previous years.It is necessary to standardize diagnostic tests and follow-up, since not all patients fully meet the diagnostic criteria. At present, a high index of clinical suspicion is mandatory for early detection and immediate intervention of the treatment until updating of the diagnostic facilities.  

scholarly journals Functional insufficiency of the pancreas and the metabolic activity of the microbiota in cystic fibrosis adults patients

2018 ◽  
Vol 90 (10) ◽  
pp. 84-88
Author(s):  
L V Vinokurova ◽  
G E Baimakanova ◽  
S A Krasovsky ◽  
S Yu Silvestrova ◽  
E A Dubtsova ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Fatty Acids ◽  
Metabolic Activity ◽  
Short Chain Fatty Acids ◽  
Short Chain ◽  
Sweat Test ◽  
Exocrine Insufficiency ◽  
Elastase Level ◽  
First Year Of Life ◽  
Chain Fatty Acids

In order to optimize the therapy, the functional state of the pancreas (P) and the peculiarities of metabolic activity of intestinal microbiota in adults with cystic fibrosis (CF) were assessed. Materials and methods. 14 CF patients (20-34 years, 7 men, 7 women) were enrolled. In 8 patients, the diagnosis was confirmed in the first year of life on the basis of clinical data, positive sweat test, 5 had genetic confirmation. In 4 patients, the diagnosis was confirmed at the age of 8-13 years and 2 patients aged 18, 27 years. In this group, genetic confirmation was in 4 subjects. In addition to general clinical studies, the level of C-peptide in blood, elastase and the concentration of short chain fatty acids in feces was determined. Results and discussion. Of elastase feces in 9 patients was 5.5±4.7 icg/g, that is revealed severe exocrine insufficiency of the pancreas and in 5 patients the elastase level was normal and amounted to 402±124 icg/g. Deployed the clinical picture of diabetes mellitus was observed in 3 patients. Metabolic activity of the colon microflora as a whole was reduced, the sum of the concentration of short-chain fatty acids (ΣCn) was 6.03±4.11 mg/g at a rate of 10.61±5.11 (p

scholarly journals Oral antibiotic therapy improves fat absorption in cystic fibrosis patients with small intestine bacterial overgrowth

2011 ◽  
Vol 10 (6) ◽  
pp. 418-421 ◽  
Author(s):  
Aleksandra Lisowska ◽  
Andrzej Pogorzelski ◽  
Grzegorz Oracz ◽  
Katarzyna Siuda ◽  
Wojciech Skorupa ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Small Intestine ◽  
Antibiotic Therapy ◽  
Bacterial Overgrowth ◽  
Oral Antibiotic ◽  
Fat Absorption ◽  
Oral Antibiotic Therapy ◽  
Small Intestine Bacterial Overgrowth

STUDIES IN CYSTIC FIBROSIS

PEDIATRICS ◽  
1965 ◽  
Vol 36 (5) ◽  
pp. 689-699
Author(s):  
Harry Shwachman ◽  
Lucas L. Kulczycki ◽  
Kon-Taik Khaw
Keyword(s):  
Cystic Fibrosis ◽  
Present Report ◽  
Pancreatic Insufficiency ◽  
Clinical Status ◽  
Practical Method ◽  
Meconium Ileus ◽  
Sweat Test ◽  
Entire Group ◽  
First Year Of Life

The present report is an analysis of 65 patients with cystic fibrosis who are 17 years of age as of January 1, 1964. The oldest patient in this series is 32 9/12, with a mean age of slightly over 20½ years for the entire group. It is unique to have the opportunity to follow a large group of patients from early life beyond adolescence in a pediatric center by the same group of physicians. The follow-up period varied from over 20 years in 2 patients to less than 3 years in 6 patients, with an average of over 11½ years for the whole group. The earliest diagnosis was made at 2 days in an infant with meconium ileus. This boy, now 17 years, is our oldest survivor of meconium ileus corrected surgically. The diagnosis was made in 8 patients in their first year of life and 34 of the 65 patients were diagnosed under 10 years of age. Fifty-one of the 65 patients were diagnosed by us and 14 were diagnosed prior to referral. Forty-two or 65% of patients are male, whereas the sex incidence is equal in infancy and childhood. Of interest are the 7 patients who are married. None have borne children. The present clinical status of these patients is excellent in 7, good in 19, mild in 29, and moderate in 10. The type of follow-up care was considered good in 43 cases, fair in 13, and poor in 9. Brief attention is given to changing concepts of the disease especially as it relates to diagnosis and therapy. Since 1954 when the sweat test was introduced by us as a practical method we have considered this the most reliable single diagnostic test. Prior to 1954 all patients were subjected to duodenal intubation. These patients with no pancreatic insufficiency but with typical pulmonary features considered to have cystic fibrosis were subsequently found to have a positive sweat test. The changes in therapy as it has evolved over the years are mentioned. The most important single advance noted was the introduction of broad spectrum antibiotics in 1948, followed in the last 10 years by a variety of measures designed to keep the bronchopulmonary tree "clean." We feel that the early detection of this disease, plus the application of our current modes of therapy, will not only prevent numerous complications but will provide a much better prognosis for life.

scholarly journals Celiac Disease and Cystic Fibrosis: Challenges to Differential Diagnosis

Folia Medica ◽  
2016 ◽  
Vol 58 (2) ◽  
pp. 141-147
Author(s):  
Alessandra Teixeira Pessoa Ramos ◽  
Manuella Machado Figueirêdo ◽  
Ana Paula de B. Aguiar ◽  
Carolina de Godoy Almeida ◽  
Patrícia S. A. Mendes ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Differential Diagnosis ◽  
Celiac Disease ◽  
20Th Century ◽  
Case Reports ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Malabsorption Syndrome ◽  
Sweat Test ◽  
Intestinal Malabsorption

Abstract Cystic fibrosis and celiac disease were considered a single clinical entity for many years. Differentiation between the diseases occurred some time in the 1930s of the 20th Century. Both diseases may present the intestinal malabsorption syndrome and similar clinical manifestations that contribute to difficulties with clinical distinction. We describe a report of two patients with initial diagnosis of cystic fibrosis, who were subsequently diagnosed with celiac disease. These case reports emphasize the possibility of false positivity being shown in the sweat test in CD, which may result in delayed diagnosis and inadequate management of this disease.

scholarly journals Correlations Between Respiratory Manifestations And Nutritional Status In Children With Cystic Fibrosis

2020 ◽  
Vol 26 (2) ◽  
pp. 85-90
Author(s):  
Cuzic Viviana ◽  
Mihai Cristina Maria ◽  
Bălașa Adriana ◽  
Mihai Larisia ◽  
Pantazi Alexandru Cosmin
Keyword(s):  
Cystic Fibrosis ◽  
Lung Function ◽  
Nutritional Status ◽  
Genetic Disease ◽  
Severe Disease ◽  
Pancreatic Insufficiency ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Sweat Test ◽  
Heterozygous Patient

Abstract Background: Cystic fibrosis is a multisystemic genetic disease with autosomal recessive transmission, with progressive clinical evolution and potentially fatal, predominantly found in the Caucasian population. It is characterized by chronic lung disease and malabsorption caused by exocrine pancreatic insufficiency. Objective: Screening of patients with persistent respiratory disease and malabsorption syndrome to diagnose cystic fibrosis and monitoring the correlation between respiratory manifestations and nutritional status. Methods: A retrospective study on 8 patients diagnosed with cystic fibrosis, from Department of Pediatrics - Constanta County Emergency Hospital, during the period from 2015 to 2018. Results: 8 patients were diagnosed by genetic test for 34 mutations and polymorphism of CFTR gene; 2 homozygous patients with ∆F508 mutation (second class of mutations) with severe disease, 2 heterozygous patients with ∆F508 mutation del 2,3; 2 heterozygous patients with ∆F508 and R553X mutations, 1 heterozygous patient with N1303K and 394delTT mutations, 1 heterozygous patient with 2183 AA96 and ∆F508 mutation; 7 out of 8 patients were diagnosed in the first year of life by performing the sweat test, with values higher than 120 mmol/L. Clinical manifestations at onset were represented by diarrhea and failure to thrive in 4 cases and in 4 cases respiratory manifestations were associated. More than half of cases had less than 6 months of age at first respiratory exacerbation, which was associated with failure to thrive. Analyzing the correlation between genotype and anthropometric indicators, it was observed that the weight was more affected than the height. The analysis between nutritional status and lung function revealed that obstructive respiratory dysfunction with low FEV1 was correlated with nutritional status. Conclusion: Cystic fibrosis is a severe genetic disease and it is important to diagnose early, because it has been observed that if the diagnosis is established late, the consequences will be severe and lung function will deteriorate earlier.

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