Characterization of a group of children with eosinophilic esophagitis in Cali, Colombia.

PURPOSE: Eosinophilic esophagitis (EoE) is an immunologically mediated chronic disease of the gastrointestinal tract. The objective of this study was to clinically and demographically describe a child population with EoE diagnosed in a high-complexity hospital in Cali, Colombia. METHODS: A retrospective study was carried out. The clinical histories of patients between 0 and 18 years with clinical suspicion and a histological diagnosis of EoE were analyzed. All patients underwent an allergy study, either by measurement of specific immunoglobulin (Ig) E and/or an intraepidermal skin-prick test. RESULTS: Thirty-five patients were included in the study, of which 21 (60%) women. The median age was 8 years (interquartile range [IQR] 5-12), and the age of onset of symptoms was 5 years (IQR 2-10). Thirty patients (85.7%) reported a history of allergic disease, with rhinitis being the most frequent (n = 25, 71.4%). Only one patient reported with food allergy mediated by IgE. The main symptoms in patients included abdominal pain (17 [48.6%]), refractory gastroesophageal reflux (16 [45.7%]), and choking (9 [25.7%]). Upper gastrointestinal endoscopy was normal in 10 patients (38.5%). The median number of eosinophils in the biopsy was 42 (IQR 31-92). Allergenic sensitization was verified in 25 of 35 patients (71.4%). Of these, dust mite allergy was positive in 21 patients (84%), while the most frequent food allergy was toward cow's milk, in five patients (31.3%). CONCLUSIONS: The majority of patients with EoE were females. The most frequent symptom was abdominal pain. Endoscopic abnormalities were also observed frequently, and the prevalence of other allergic diseases (especially rhinitis) and allergenic sensitization (especially to mites) was high.

20 years of experience with the Fontan procedure: characteristics and clinical outcomes of children in a tertiary referral hospital.

INTRODUCTION: Without participating in a contractile chamber, the Fontan procedure seeks to create a separation of oxygenated and deoxygenated blood in patients with univentricular heart, reducing the risks of long-term hypoxemia and improving their survival. This study describes the clinical outcomes of children undergoing the Fontan procedure between 2000 and 2020 in a tertiary referral hospital care centre in southwestern Colombia. MATERIALS AND METHODS: A retrospective observational descriptive study. The 81 patients who underwent the Fontan procedure were included. Categorical variables were presented with percentages and continuous variables with measures of central tendency according to the distribution of the data evaluated through the Shapiro-Wilk test. Sociodemographic, clinical, surgical variables, complications, and mortality were described. RESULTS: Between 2000 and 2020, 81 patients underwent the Fontan procedure: 43 (53.1%) males and a median age of 5.3 years (interquartile range 4.3-6.6). The most common diagnosis was tricuspid atresia (49.4%). The median mean pulmonary arterial pressure was 12 mmHg (interquartile range 10-15), the Nakata index 272 mm2/m2 (interquartile range 204-327), and the McGoon index (interquartile range 1.86-2.3). Seventy-two (88.9%) patients underwent extracardiac Fontan and 44 (54.3%) patients underwent fenestration. The median hospitalisation days were 19 days. The main complication was coagulopathy (19.8%), mortality in the first month between 2000 and 2010 was 8.6%, and after 2010 was 1.2%. CONCLUSION: The Fontan procedure is a palliative surgery for children with complex heart disease. According to anatomical and physiological variables, the proper choice of patients determines the short- and long-term results.

Treatment of post-transplant recurrent FSGS in children using plasmapheresis and augmentation of immunosuppression.

BACKGROUND: Up to 60% of pediatric renal transplant recipients with end-stage renal disease due to primary focal and segmental glomerulosclerosis (FSGS) may develop recurrent disease. Such recurrence is associated with poor prognosis if no remission is achieved. We report a single center experience with a protocol based on plasmapheresis and increased immunosuppression that resulted in a high long-lived remission rate. METHODS: This retrospective cohort study included consecutive pediatric renal transplant patients with recurrent FSGS treated with a standardized protocol using plasmapheresis and cyclophosphamide to supplement usual post-transplant immunosuppression with calcineurin inhibitors and steroids. Relapse was defined as urinary protein/creatinine ratio > 1.0 g/g and remission as < 0.5 g/g. RESULTS: Seventeen patients with FSGS recurrence post-transplant were treated. All had therapy resistant FSGS in native kidneys and had been on dialysis from 4 to 10 years. Of the 17, one died perioperatively from a pulmonary thromboembolism. Fifteen others achieved a complete remission within 3 months of treatment for FSGS recurrence. After a median follow-up period of 4 years, there were no recurrences of significant proteinuria. One patient achieved remission with rituximab. CONCLUSION: The addition of plasmapheresis and cyclophosphamide to a calcineurin- and steroid-based immunosuppression regime was highly successful in inducing high remission rates with recurrent FSGS. Prospective trials are needed to evaluate further the efficacy of increased immunosuppression along with plasmapheresis in this setting.

Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.

INTRODUCTION: In recent decades, there has been a growing increase in the diagnosis of patients with inborn errors of the immune system, formerly known as primary immunodeficiency disorders (PIDs). Timely diagnosis remains a challenge due to low clinical suspicion and poor education on the subject. It is estimated that between 70% and 90% of these pathologies remain underdiagnosed in our environment. OBJECTIVE: The objective of this study is to characterize the demographic and clinical presentation of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital. METHODS: Retrospective descriptive study of 306 patients with a diagnosis of innate errors of the immune system who consulted the PID clinic between 2011 and 2018 in a high-complexity institution in Cali, Colombia. RESULTS: Three-hundred and six patients were included. The median age was 4 years (IQR 2.3-7.7 years), and 59.5% of the patients were male. According to the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency classification for inborn errors of the immune system, the most common group was antibody deficiency in 74.8% (n˂229), especially in the age group between 1 and 5 years. The least frequent in our population was complement deficiency. Of the warning signs stipulated for these pathologies, the most frequent were the (1) need for intravenous antibiotics (32%), (2) difficulty growing (15.7%), (3) four or more episodes of ear infection (10.8%), and (4) abscesses in organs or cutaneous abscesses (12.7%). No patient reported two or more episodes of pneumonia or sinusitis, and only 5.8% of the patients received a bone marrow transplant. CONCLUSIONS: Innate errors of the immune system require an early diagnosis with follow-up from an early age to ensure adequate management and follow-up in order to reduce morbidity and mortality. It is imperative to sensitize the medical population about the existence of these pathologies so that early intervention can be carried out, which improves the quality of life of patients and their families.

Low agreement between kidney volume and kidney length z-scores.

BACKGROUND: Pediatric nephrologists use kidney length and kidney volume z-scores to longitudinally assess normal nephron endowment. However, most radiologists only report kidney length. Agreement between kidney length and kidney volume z-scores in children has been understudied. This study aims to assess agreement between kidney length and kidney volume z-scores in children. METHODS: This novel cross-sectional cohort study prospectively followed prematurely born babies from a large specialized prematurity follow-up center. A healthy control group matched the cases by age and sex and was recruited from schools. Children were assessed for kidney length and kidney volumes at age 5 by three independent ultrasonographers. All measurements were performed in triplicate. Detailed anthropometry, blood pressure, and kidney function were also obtained. Age-independent z-scores were calculated for all parameters according to Scholbach and Weitzel and compared using descriptive statistics. RESULTS: We studied 89 premature patients (median 32 weeks gestational age) and 33 healthy controls (median 38 weeks gestational age). There were 732 determinations of kidney length, width, and thickness. The mean z-score of the right kidney length was 0.65 ± 0.08 (SEM) compared with 0.88 ± 0.08 of the left kidney length (p = 0.0003, two-sided paired t test). The squared correlation coefficient for kidney volume to kidney length was 0.32 (p < 0.0001). Bland and Altman analysis revealed considerable bias with - 1.36 ± 0.76 standard deviations and 95% limits of agreement from - 2.83 to - 0.16. CONCLUSION: Reporting only kidney length results in significant overestimation of age-independent z-scores. Based on our findings, consideration to measuring all kidney dimensions may be more appropriate.

Pediatric hemophagocytic lymphohistiocytosis: A rarely diagnosed entity in a developing country.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is an exaggerated inflammatory reaction secondary to a host's inadequate immune response causing a self-perpetuating loop of altered regulation. Signs and symptoms of HLH are compatible with other common diseases and are nonspecific. Underdiagnosis makes it difficult to estimate the real incidence of HLH, especially in developing countries. METHODS: Retrospective, descriptive study of pediatric patients admitted to a high-complexity institution in Cali, Colombia between 2012 and 2019 with HLH diagnosis. Medical history review to complete an electronic database and a secondary, descriptive analysis was carried out. The study was approved by the Institutional Ethics Committee. RESULTS: Twenty-one patients were included. 52.4 % of the population was male with a median age of 9.3 years [IQR (3.0-13.7 years)]. More than half of patients (66.6 %) had viral disease at diagnosis, the most frequent being Epstein-Barr Virus (EBV) (52.3 %) and dengue (14.3 %). Three patients had confirmed gene mutations (G6PC3, XIAP, and UNC13D). 95 % of the patients were treated with the HLH 2004 protocol, half of them received incomplete protocol with intravenous immunoglobulin (IVIG) and/or systemic steroids, while the other half received the complete protocol including etoposide and cyclosporine. More than three-fourths (76.2 %) required admission to an ICU with a median stay of 14 days [IQR (11-37 days)] and a median hospital stay of 30 days [IQR (18-93 days)]. 14.3 % (n = 3) of patients died. CONCLUSIONS: HLH is a complex disease that requires multidisciplinary management with secondary HLH due to EBV infection being a common cause. There is increasing awareness of HLH diagnosis in developing countries such as Colombia which can offer earlier treatment options and better outcomes.

Renal length z-score for the detection of dysfunction in children with solitary functioning kidney.

AIM: To evaluate whether renal length z-scores predict renal dysfunction in children with a solitary functioning kidney (SFK). METHODS: In a single-centre retrospective cohort of children with SFK, we correlated body mass index z-scores, extracellular volume and lean body mass to renal length z-scores. We grouped these z-scores to other markers of renal dysfunction (proteinuria, hypertension, extracellular volume and abnormal estimated glomerular function rate [eGFR]) and analysed renal length z-score with multivariate analysis, receiver-operated characteristics (ROC) plots and Youden's index to determine an appropriate cut-off. RESULTS: 111 children had a median follow-up 5.08 years, eGFR 80.8 mL/min/1.73 m2 , and age at last follow-up 7.4 (3.8-13.4 years). The median renal length z-scores of those without any renal dysfunction (n = 37, 25.1%) were greater (+3.66, interquartile range 3.02-4.47) than those with renal dysfunction (median 3.11, interquartile range 1.76-4.11, P = .0107, Mann-Whitney test). Using a cut-off of z-score of >+1.911, the odds ratio for having no renal dysfunction was 0.07 (95% CI 0.002-0.459, P = .0010). However, accuracy of the renal length z-score was poor (ROC curve 0.6488). CONCLUSION: In this cohort of children with SKF, using the renal length z-score as a biomarker of renal dysfunction at 7 years of age is not recommended.

Lower prevalence of aortic dilatation among preemptive pediatric renal transplant recipients - A cross-sectional cohort study.

BACKGROUND: Aortic dilatation is a cardiovascular complication in pediatric renal transplant recipients and may have an increased risk of aortic dissection, aortic rupture, and death. Studies failed to show an association between blood pressure and aortic dilatation; however, 24-hours ambulatory blood pressure monitoring (ABPM) was not performed. There was also no comparison between preemptive transplantation and dialysis. METHODS: After ethics approval, a retrospective cross-sectional study was performed on all prevalent pediatric renal transplant recipients from a single tertiary care center. The presence of aortic dilatation was determined using standard echocardiographic measurements, and those with other risk factors for aortic dilatation were excluded. Associations between 24-hours ABPM, renal function, dialysis history, and aortic dimensions were determined. RESULTS: We enrolled 37 participants with the following characteristics: 46% female, mean age 14.5 ± 3.7 years, 16% preemptive transplantation, and median end-stage renal disease (ESRD) combined vintage (time from ESRD onset to echocardiogram) 597 days (range 289-1290 days). We found 16/37 patients (43%) with aortic dilatation at any level, mostly mild. There was no association between 24-hours ABPM measurements and aortic dilatation. None of the preemptively transplanted children had aortic dilatation. CONCLUSION: This study confirms a high prevalence of aortic dilatation among pediatric renal transplant recipients, which appears to be independent of hypertension on 24-hour ABPM. Patients with preemptive renal transplantation did not have aortic dilatation, suggesting that the effects of dialysis may contribute to the high prevalence of this complication. Pediatric cardiologists need to carefully assess aortic dimensions in these at-risk patients.

[Ex-Utero Intrapartum Treatment for airway management in congenital giant neck masses]. / Técnica EXIT como manejo de la vía aérea en masas gigantes congénitas de cuello.

INTRODUCTION: Congenital head and neck masses are associated with perinatal asphyxia and brain injury, increasing the risk of death. The EXIT (Ex Utero Intrapartum Treatment) technique con sists of ensuring the newborn's airway while is still receiving placental support. This technique has not been standardized in developing countries. OBJECTIVE: To describe the clinical outcomes of two infants who underwent the EXIT technique. CLINICAL CASE: We present two cases, one with lymphatic malformation diagnosed at 20 weeks of gestational age (WGE) and the second one, a preterm newborn with thyromegaly and polyhydramnios, diagnosed at 35 WGE. In both cases, during the C-section, the EXIT technique was performed with a team of a neonatologist, a gyne cologist, an anesthesiologist, a pediatric surgeon, an otolaryngologist, a nurse, and a respiratory therapist. In both patients, the neonatologist achieved to secure the airway through orotracheal intubation at the first attempt. In the first case, lymphatic malformation was confirmed and re ceived sclerotherapy, and the second one was diagnosed with congenital hypothyroidism which was managed with levothyroxine. The patients needed invasive mechanical ventilation for 7 and 9 days, respectively, and were discharged without respiratory complications. CONCLUSIONS: In these patients, the EXIT technique was a safe procedure, carried out without inconvenience. A multi disciplinary approach and the availability of a neonatal intensive care unit are needed to reduce potential complications and ensure postnatal management. Timely prenatal diagnosis is essential to perform this technique.