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OBJECTIVES: To analyze the evolution of clinical and anthropometric characteristics of children and adolescents with cystic fibrosis (CF) over 24 months, including the period of the COVID-19 pandemic. METHODS: A longitudinal study with data collection from May 2018 to November 2020 in physical and electronic records from a pediatric reference center, including individuals with CF aged up to 18 years. RESULTS: The sample encompassed 72 individuals. Weight (p < 0.01), height (p < 0.01), and body mass index (BMI) (p = 0.043) were higher in 2020 than in 2018. There were no significant changes in BMI-Z (p = 0.977) and in percentiles of weight (p = 0.540), height (p = 0.458), and BMI percentile (p = 0.454) between both periods. Pancreatic insufficiency was observed in 91.7% of patients in 2020, and there were twice as many confirmed cases of diabetes compared to 2018. There was a 9.7% increase in individuals colonized by the oxacillin-sensitive Staphylococcus aureus (OSSA) (p = 0.039) and an 11.1% reduction in non-colonized individuals (p = 0.008). CONCLUSION: Although there was an increase in weight, height, and BMI from 2018 to 2020, there were no significant changes in BMI-Z and in percentiles of weight, height, and BMI percentile, suggesting that the anthropometric aspects of nutritional status did not change in this period of 2 years. Moreover, there was an increase in the prevalence of individuals colonized by OSSA and a reduction in the prevalence of individuals non-colonized with any bacteria.

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BACKGROUND: Anemia exhibits complex causation mechanisms and genetic heterogeneity. Some cases result in poor outcomes with multisystemic dysfunction, including renal tubulopathy. Early diagnosis is crucial to improve management. CASE-DIAGNOSIS/TREATMENT: A 21-month-old female patient was admitted with severe anemia. Persistent neutropenia and dysplastic signs suggested myelodysplastic syndrome, but targeted gene panel results were negative. After multiple transfusions, spontaneous hematologic recovery was observed. At 4 years old, she presented failure to thrive, renal Fanconi syndrome, and severe metabolic acidosis. Differential diagnosis included Pearson syndrome (PS), a life-threatening condition associated with mitochondrial DNA (mtDNA), featuring anemia and pancreatic insufficiency. Further analysis revealed a ~ 7.5 kb mtDNA deletion. Until the age of 5, supportive care has been provided, without pancreatic insufficiency. CONCLUSIONS: This PS case highlights the importance of genetic testing, even in the absence of typical features. Understanding the nature of mitochondrial disorders enables treatment tailoring and counseling about the prognosis.

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Introducción: La fibrosis quística ha dejado de ser una enfermedad pediátrica para ser una enfermedad crónica del adulto. Existen múltiples factores que condicionan la supervivencia de estos enfermos. Objetivo: Determinar la sobrevida de pacientes pediátricos con fibrosis quística hospitalizados en un centro especializado. Métodos: Estudio retrospectivo de cohorte cuyo universo lo conformaron 27 pacientes incluidos en el Registro Provincial de Fibrosis Quística de Granma, 2003-2018. Se analizaron variables: edad actual y sexo, variante genética, presencia de gérmenes, formas clínicas, y supervivencia a partir del diagnóstico y tratamiento. Se utilizó el método de Kaplan-Meier y Log-Rank Test, para un nivel de significación de 95 por ciento. Resultados: El 40,7 por ciento de los pacientes declaró tener actualmente más de 15 años, predominó el sexo masculino (63 por ciento), y la mutación F508 del en su variante genética heterocigótica (44,4 por ciento). El promedio de supervivencia resultó en 21,4 años, no existieron diferencias significativas según sexo, formas clínicas y tipos de gérmenes. Conclusiones: Los pacientes con fibrosis quística en Granma, Cuba mostraron un promedio de supervivencia de 21,4 años, inferior a lo documentado en países desarrollados. El Estado cubano garantiza recursos para la atención de estos pacientes, a pesar de las dificultades económicas del país(AU)

Introduction: Cystic fibrosis is no longer a pediatric disease but a chronic adult disease. There are multiple factors that condition the survival of these patients. Objective: To determine the survival of pediatric patients with cystic fibrosis hospitalized in a specialized center. Methods: Retrospective cohort study whose universe consisted of 27 patients included in the Granma provincial cystic fibrosis registry, 2003-2018. Variables were analyzed: current age and gender, genetic variant, presence of germs, clinical forms and survival after diagnosis and treatment. The Kaplan-Meier method and Log-Rank Test were used, for a significance level of 95 percent. Results: 40.7 percent of patients are currently over 15 years of age, male sex predominates (63 percent) and the F508del mutation in its heterozygous genetic variant (44.4 percent). The average survival is 21.4 years, there were no significant differences according to gender, clinical forms and types of germs. Conclusions: The average survival rate of patients with cystic fibrosis in Granma, Cuba, is 21.4 years, lower than that documented in developed countries. The Cuban State guarantees resources for the care of these patients, despite the country's economic difficulties(AU)

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We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities. Whole-exome sequencing revealed a diagnosis of Shwachman-Diamond syndrome (SDS) with an atypical presentation. Unexpected was the age of disease expression, normally around the pediatric age, with a predominantly median survival age of 36 yr. To our knowledge, she was the first adult patient with a molecular diagnosis of Shwachman-Diamond in Uruguay. The patient was referred to our service when she was 43-yr-old with a history of bone marrow failure with anemia and thrombocytopenia. All secondary causes of pancytopenia were excluded. Bone marrow aspirate and biopsy specimens were hypocellular for the patient's age. Numerous dysplastic features were observed in the three lineages. She had a normal karyotype and normal chromosomal fragility. A diagnosis of low-risk hypoplastic MDS was made. Dermatological examination revealed reticulate skin pigmentation with hypopigmented macules involving the face, neck, and extremities; nail dystrophy; premature graying; and thin hair. Extrahematological manifestations were present (e.g., learning difficulties, short stature). Last, she was diagnosed with cryptogenic liver cirrhosis CHILD C. This rules out all other possible causes of chronic liver disease. This clinical presentation initially oriented the diagnosis toward telomeropathy, so we did a telomeropathy NGS panel that came up negative. Finally, we did an exome sequencing that confirmed the diagnosis of SDS. Using whole-exome sequencing, we were able to find two compound heterozygous mutations in the SBDS gene that were responsible for the phenotype of a patient that was undiagnosed for 10 years. An earlier genetic diagnosis could have influenced our patient's outcome.

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Introducción: La fibrosis quística (FQ), afecta el epitelio exocrino, formando una mucosidad espesa que obstruye los conductos de los diferentes órganos, siendo el pulmón y páncreas los más afectados. El objetivo del presente estudio fue determinar la asociación entre los factores clínicos y las complicaciones, así como la supervivencia de pacientes con FQ atendidos en un centro de referencia pediátrica en México. Métodos: El presente estudio observacional, longitudinal, fue realizado en el Instituto Nacional de Pediatría en México, de abril del 2012, a abril del 2022. Con una muestra no probabilística ingresaron al estudio niños con fibrosis quística. Las variables fueron: demográficas, complicaciones pulmonares, extrapulmonares y mortalidad. Se realiza la asociación con chi-cuadrado y la supervivencia con Kaplan-Meir. Resultados: Se analizan 71 pacientes, lactantes menores 41 casos (62%), pre-escolares 12 casos (16.9%). Fueron 40 hom-bres (56.3%). 57 casos (80.3%) tuvieron exacerbación infecciosa, 11 casos (15.5%) aspergi-losis broncopulmonar, 9 casos (12.7%) con hipertensión pulmonar, 5 casos (7%) con neumotórax, 12 casos (16.9%) con ventilación mecánica, 70 casos (98.5) con insuficiencia pancreática, 10 casos (14%) con enfermedad hepatobiliar. Hubo asociación de complica-ciones extrapulmonares con el fenotipo F508. La supervivencia global fue de 150 meses. En pacientes con ventilación mecánica invasiva la supervivencia fue de 55 meses (P<0.001), en pacientes con ventilación mecánica no invasiva fue de 106 meses (P<0.001), en pacientes con neumotórax fue de 25 meses P<0.001, en pacientes con aspergilosis bronco-pulmonar alérgica fue de 125 meses P<0.01. Conclusión: la mayor compli-cación extrapulmonar de pa-cientes con FQ es la insuficien-cia pancreática. La presencia de neumotórax disminuye la supervivencia.

Introduction: Cystic fibrosis (CF) affects the exocrine epithelium, forming a thick mucus that obstructs the ducts of the different organs, with the lungs and pancreas being the most affected. This study aimed to determine the association between clinical factors and complications, as well as the survival of CF patients treated at a pediatric reference center in Mexico. Methods: This observational, longitudinal study was conducted at the National Institute of Pediatrics in Mexico from April 2012 to April 2022. Children with cystic fibrosis were entered into the study with a nonprobabilistic sample. The variables were demographic, pulmonary and extrapulmonary complications and mortality. The association was made with chi-square and survival with Kaplan- Meir. Results: Seventy-one patients were analyzed, including 41 infants (62%) and 12 preschoolers (16.9%). There were 40 men (56.3%). Fifty-seven cases (80.3%) had an infectious exacerbation, 11 cases (15.5%) had allergic bronchopulmonary aspergillosis, 9 cases (12.7%) had pulmonary hypertension, 5 cases (7%) had pneumothorax, 12 cases (16.9%) had mechanical ventilation, 70 cases (98.5%) had pancreatic insufficiency, and 10 cases (14%) had hepatobiliary disease. There was an association of extrapulmonary complications with the F508 phenotype. Overall survival was 150 months. In patients with invasive mechanical ventilation, survival was 55 months (P<0.001); in patients with noninvasive mechanical ventilation, it was 106 months (P<0.001); in patients with pneumothorax, it was 25 months (P<0.001); and in patients with allergic bronchopulmonary aspergillosis, it was 125 months (P<0.01). Conclusion: The most significant extrapulmonary complication in CF patients is pancreatic insufficiency. The presence of pneumothorax markedly decreases survival.

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BACKGROUND: Alcohol and tobacco are important risk factors for chronic pancreatitis (CP). AIM: To analyze the effect of etiological factors such as tobacco and alcohol and pancreatic enzyme replacement therapy (PERT) in the progression of CP. MATERIAL AND METHODS: Patients with a diagnosis of CP were recruited and grouped according to variables such as tobacco, alcohol and PERT. They were followed for 18 months. Subsequently, different variables and analytical parameters involved in the progression of the disease were analyzed. RESULTS: A total of 50 patients diagnosed with CP were included. Of these, 28 patients underwent PERT, 39 were smokers and 33 were alcohol users. Compared with patients without PERT, those with PERT had a higher proportion of diabetes (64 and 32%, respectively), had a higher need for endoscopic treatment (25 and 0%, respectively) and a normal body mass index (71 and 27.3%, respectively. The smokers had higher calcium levels and increased lymphocytosis and leukocytosis. The alcohol consumption group had a higher mean age (p = 0.04) CONCLUSIONS: PERT may improve the nutritional status but does not reduce the need for endoscopic or surgical treatment. Smoking and alcohol consumption favored the progression of CP. Also, smoking induced a pro-inflammatory state.

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La fibrosis quística (FQ) es un trastorno hereditario, de las glándulas de secreción exocrina, considerada la causa más frecuente de insuficiencia pancreática exocrina (IPE) en la infancia. Esta revisión resume el panorama del tratamiento de reposición enzimática en la IPE asociada a la FQ, las formulaciones disponibles, su dosificación y modo de administración, así como las limitaciones y desafíos actuales y las posibles áreas del desarrollo futuro

Cystic fibrosis (CF) is an inherited disorder of the exocrine secretion glands, considered the most frequent cause of exocrine pancreatic insufficiency (EPI) in childhood. This review summarizes the landscape of enzyme replacement therapy in PEI associated with CF, the available formulations, their dosage and mode of administration, as well as the current limitations and challenges and potential areas for future development.

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OBJECTIVE: To analyze the association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis treated at a reference center in Minas Gerais, Brazil. METHODS: This is a retrospective study that collected clinical and laboratory data, respiratory and gastrointestinal manifestations, type of treatment, Shwachman-Kulczycki score, and mutations from the patients' medical records. RESULTS: The sample included 50 participants aged one to 33 years, 50% of whom were female. Out of the one hundred alleles of the Cystic Fibrosis Transmembrane Conductance Regulator gene, the most prevalent mutations were DeltaF508 (45%) and S4X (18%). Mutation groups were only associated with pancreatic insufficiency (p=0.013) and not with disease severity (p=0.073). The latter presented an association with colonization by Pseudomonas aeruginosa and Staphylococcus aureus (p=0.007) and with underweight (p=0.036). Death was associated with age at diagnosis (p=0.016), respiratory symptomatology (p=0.013), colonization (p=0.024), underweight (p=0.017), and hospitalization (p=0.003). CONCLUSIONS: We could identify the association of mutations with pancreatic insufficiency; the association of Staphylococcus aureus colonization and underweight with disease severity; and the lack of association between mutations and disease severity. Environmental factors should be investigated more thoroughly since they seem to have an important effect on disease severity.

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BACKGROUND AND AIMS: Irritable bowel syndrome (IBS) is one of the most frequent disorders in clinical practice, with a mean 7.6-10.8% worldwide prevalence. A study showed that 6.1% of patients with diarrhea-predominant IBS (IBS-D) had severe exocrine pancreatic insufficiency (EPI). We aimed to identify the prevalence of EPI based on fecal elastase stool testing (Fel-1) in IBS-D and the clinical characteristics that may predict the diagnosis of EPI. METHODS: Patients aged > 18 years presenting to tertiary hospital outpatient clinics with IBS-D completed validated questionnaires and gave a stool sample where Fel-1 concentration was measured. Patients with Fel-1 < 100 µg/g represented EPI and > 100 to < 200 µg/g underwent testing for pancreatic pathology with laboratory and endoscopic ultrasound (EUS) evaluation. RESULTS: One hundred forty patients (mean age 60 years, females 75.7%) were studied. EPI was found in 5% (95% CI 2.2-10.4), and pancreatic steatosis was the main EUS finding (71%). Dyspepsia was an independent factor associated with EPI (OR 34.7; 95% CI 4.95-366.37, p = 0.0007). After pancreatic enzyme replacement therapy (PERT), patients showed a significant improvement in the Bristol stool scale (p < 0.0001), bowel movements per day (p < 0.005), distension score (0.0009), pain score (0.0277) and IBS severity (0.0034). CONCLUSION: EPI is present in 5% of patients who fulfill Rome IV criteria for D-IBS, and dyspepsia was an independent symptom strongly associated with EPI. Pancreatic steatosis was the main endoscopic ultrasound finding. After PERT therapy, patients had significantly improved stool frequency, stool consistency, abdominal pain, distension and IBS severity score.

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