Search Results (24)

Background: Severe hypertriglyceridemia (SHTG) in children is a rare but clinically significant disorder associated with recurrent acute pancreatitis and substantial morbidity. Early identification and prompt management are essential to prevent pancreatic and systemic complications. Methods: We report the case of an 11-year-old female with a history of xanthogranulomatous pancreatitis who presented with extreme hypertriglyceridemia, with fasting triglyceride levels exceeding 4000 mg/dL. Results: The patient was treated acutely with continuous intravenous aspart insulin (0.1 U/kg/hour) and adjusted 10% glucose infusion, with hourly glucose and potassium monitoring, leading to a rapid and marked reduction in triglyceride levels—55% reduction within the first 24 h, 76% at 48 h, and 82% after 96 h of treatment. No hypoglycemia or other adverse effects were observed. Nutritional management included a low–long-chain triglyceride (LCT) diet enriched with medium-chain triglycerides (MCTs) and omega-3 fatty acids, providing essential calories while minimizing chylomicron production. Over a 12-month follow-up, the patient remained asymptomatic, with sustained lipid normalization and no recurrence of pancreatitis. Conclusions: This case underscores the therapeutic value of combining pharmacologic and dietary strategies in pediatric SHTG. Evidence from pediatric and adult studies supports the role of insulin infusion for acute triglyceride lowering and MCT-based nutritional therapy for long-term control. Our findings highlight the need for early, individualized, and multidisciplinary management and emphasize the potential future role of emerging targeted therapies in addressing refractory pediatric hypertriglyceridemia. Full article

Acute pancreatitis (AP) is a multifactorial, complicated inflammatory process that involves the organ and the tissues around it. In children, the most common causes of acute pancreatitis are abdominal trauma, infections (mostly viruses), systemic diseases, bile duct diseases (anatomical defects and/or gallstones) and genetic mutations. The course of the disease can vary from mild to very severe with life-threatening complications. The aim of this study was to conduct a retrospective analysis of causes, clinical picture, complications and treatment of acute pancreatitis in children. Materials and methods: We retrospectively analyzed the history of 57 children hospitalized in the Department of Paediatrics, Medical University of Silesia in Katowice between 2019 and 2022 with diagnosed acute pancreatitis. Results: The analysis included 57 children (age 2–18 years, average 11.0 years, 51% boys, 49% girls) with diagnosed acute pancreatitis. The most common causes of acute pancreatitis were biliary (14/57—24.6%), genetic (10/57—17.5%) and anatomical defects (8/57—14%). In 20/57 (35.1%) children, idiopathic acute pancreatitis was diagnosed. The genetically determined causes were the following: SPINK1 mutation in 5/57 (8.7%) children, PRSS1 mutation in 4/57 (7%) patients and CPA1 mutation in 1/57 (1.8%) children. A total of 19/57 (33.3%) children had more than one episode of acute pancreatitis during the considered period. A total of 10/57 (17.5%) children were obese. The clinical picture was dominated by abdominal pain, vomiting and jaundice. Complications were observed in 9/57 (15.8%) children: peripancreatic fluid collections (6/57—10.5%), pancreatic necrosis (4/57—7%), and pleural effusion and/or pseudocysts. Conclusions: The number of children diagnosed and treated with acute pancreatitis increased over time. The most frequent causes are genetic predispositions, infections and cholelithiasis. Acute pancreatitis should be considered in every case of abdominal pain, vomiting and jaundice in children. Complications with a severe course are also observed in the pediatric population with acute pancreatitis. Full article

Background and Objectives: Familial type 1 diabetes (FT1D) represents a distinct subgroup of T1D potentially influenced by shared genetic and environmental factors. Data from Middle Eastern populations—where both T1D incidence and consanguinity are high—remain limited. This study aimed to determine the prevalence of FT1D and to compare the clinical, metabolic, and immunological features of FT1D with non-familial T1D (NFT1D) among children and adolescents in Saudi Arabia. Materials and Methods: A retrospective analytic study was conducted among 987 individuals diagnosed with T1D before 18 years of age and followed at the Jazan Endocrinology and Diabetes Center between 2015 and 2023. Participants were categorized as FT1D if they had at least one affected first-degree relative. Demographic, clinical, and biochemical data—including autoantibody profiles, associated autoimmune diseases, glycemic indices, and acute complications—were compared. Multivariate regression analyses were performed to assess independent associations after adjustment for age at diagnosis, sex, and parental consanguinity. Results: FT1D accounted for 19.5% of all T1D cases, with siblings being the most affected relatives (11.3%). FT1D patients were diagnosed at a younger age (8.2 ± 3.4 y vs. 9.3 ± 3.7 y; p = 0.001), had lower HbA1c (10.7 ± 1.5 vs. 12.0 ± 1.5; p < 0.001), less DKA at presentation (33.9% vs. 49.7%; p < 0.001), and fewer ICU admissions (13.5% vs. 20.8%; p = 0.023). In adjusted models, FT1D remained independently associated with lower odds of DKA (OR = 0.54, 95% CI 0.39–0.76, p < 0.001) and ICU admission (OR = 0.58, 95% CI 0.37–0.92, p = 0.019), and with higher odds of extra-pancreatic autoantibody positivity (OR = 1.78, 95% CI 1.21–2.61, p = 0.003) and anti-tissue transglutaminase antibodies (OR = 1.64, 95% CI 1.05–2.56, p = 0.031). Conclusions: FT1D constitutes a considerable proportion of pediatric T1D in Saudi Arabia and is characterized by earlier onset, milder metabolic decompensation at diagnosis, higher consanguinity, and higher likelihood of associated extra-pancreatic autoimmune diseases. Despite these differences, short-term glycemic outcomes remain similar to non-familial cases. These findings emphasize the need for family-based screening, genetic counseling, and early detection programs in high-risk populations. Full article

Background: Pancreatic involvement in inflammatory bowel diseases (IBD) is relatively common and includes a range of conditions, such as acute pancreatitis (AP), chronic pancreatitis (CP), autoimmune pancreatitis (AIP), and pancreatic exocrine insufficiency (PEI). However, pancreatitis as a precursor to IBD is not well understood and is rarely reported. Objectives: This study investigates the occurrence, etiology, severity, and recurrence patterns of acute pancreatitis (AP) prior to IBD diagnosis in pediatric patients, with the aim of improving early recognition and diagnostic approaches. Methods: This retrospective observational study was conducted between January 2019 and December 2023 at a tertiary pediatric center, including patients who developed pancreatitis prior to an IBD diagnosis. Demographic information, clinical presentation, laboratory findings, imaging results, fecal calprotectin levels, radiological tests, blood tests, and endoscopic findings were collected. Results: Among 312 pediatric IBD patients (99 with Crohn’s disease (CD), 162 with ulcerative colitis (UC), 7 unclassified, and 44 with very early-onset IBD [VEO-IBD]), 11 (3.5%) had pancreatitis preceding the IBD diagnosis. All the patients showed elevated fecal calprotectin levels, and endoscopy confirmed IBD (four with CD, seven with UC). The median time from the onset of pancreatitis to the IBD diagnosis was 77 weeks (range 0–366 weeks). Conclusions: This study supports the hypothesis that pancreatitis may precede the diagnosis of IBD in some cases, acting as an early extraintestinal manifestation, as previously reported in adults. IBD should be considered in the differential diagnosis of pediatric pancreatitis, particularly in idiopathic cases. Fecal calprotectin testing should be included in the diagnostic workup for pediatric pancreatitis at both initial presentation and during follow-up. Further research is needed to better understand the mechanisms underlying this extraintestinal manifestation. Full article

Background/Objectives: Cystic fibrosis (CF) is a multisystem disease caused by CFTR gene variants, with a high prevalence of vitamin D (VitD) deficiency despite the supplementation and schedules specifically developed for this population. Lower VitD levels have been associated with an increased risk of respiratory infections and pulmonary exacerbations in CF, with some pilot studies indicating the potential benefits of supplementation during acute episodes. This study aimed to describe the occurrence of VitD deficiency according to the supplemented dose in pediatric patients with CF. Methods: A cross-sectional analytical study was conducted to assess serum VitD levels in a pediatric population with cystic fibrosis. Clinical and biochemical data were collected, along with information on VitD intake and pancreatic enzyme dosage at the time of evaluation. Results: A total of 48 patients were included in the study. Normal VitD levels were observed in 41.7% of the patients, insufficiency in 31.3%, and deficiency in 27%. The median VitD intake was 2050 IU. A statistically significant difference was observed in patients with a daily intake exceeding 2000 IU. Only 10% of patients achieved levels above 30 ng/mL with a lower dose. No statistically significant association was identified between the pancreatic enzyme dosage and vitamin D levels. Conclusions: Vitamin D deficiency/insufficiency is a persistent problem in the pediatric CF population; the interventions targeting factors associated with this condition are required to refine supplementation schedules. These findings underscore the need for personalized strategies to optimize vitamin D status in PwCF. Ideally, these strategies should consider all associated factors, including genetic variants; however, with limited resources, our results suggest that a daily dose of 2000 IU of vitamin D may represent a reasonable and effective starting point for supplementation. Full article

Purpose: This study aimed to identify the risk factors for acute pancreatitis (AP) and its impact on outcomes in Polish children treated for ALL. Methods: The study group included 2303 children receiving intensive chemotherapy for ALL. The group was divided into patients with at least one episode of AP and those who did not develop AP after treatment for ALL. Results: The cumulative incidence of AP in the study group was 4.08%. Older age was an independent risk factor for the development of AP (OR = 1.05; 95%CI = 1.006–1.098; p = 0.03). The overall mortality associated with AP was 2.13%. The probabilities of disease-free survival (p-DFS) and event-free survival (p-EFS) in both subgroups were 0.84 vs. 0.86, log-rank p = 0.65 and 0.75 vs. 0.80, log-rank p = 0.12, respectively. A total of 22 out of 94 patients (23.4%) with AP were re-exposed to asparaginase (ASP) during the subsequent treatment phases. Only one patient re-exposed to ASP (4.5%) developed a second episode of AP. There were no significant differences in p-DFS and p-EFS between patients re-exposed and not re-exposed to asparaginase (0.78 vs. 0.86, log-rank p = 0.27 and 0.63 vs. 0.79, log-rank p = 0.09, respectively). Conclusions: The incidence of AP in children with ALL is low and related to patients’ age. The development of AP does not seem to influence p-DFS and p-EFS in children with ALL. Recurrence of AP after re-exposure to asparaginase in patients with ALL and a history of AP is low (4.5%). Re-exposure to asparaginase after the first episode of AP does not improve either p-DFS or p-EFS in children with ALL. Full article

Shwachman–Diamond syndrome (SDS) is one of the most common inherited bone marrow failure syndromes. SDS is characterized by hypocellular bone marrow, with a severe impairment of the myeloid lineage, resulting in neutropenia, thrombocytopenia, and, more rarely, anemia. Almost 15% of patients with SDS develop myelodysplastic syndrome or acute myeloid leukemia as early as childhood or young adulthood. Exocrine pancreatic insufficiency is another common feature of SDS. Almost all patients with SDS show failure to thrive, which is associated with skeletal abnormalities due to defective ossification. Considering these observations, it remains unfeasible to use the common growth charts already available for the general population. To address this issue, we report how we drew up growth charts of patients with SDS aged 0 to 18 years. We analyzed height, weight, and body max index (BMI) in 121 Italian patients with SDS. Results indicated that the 50th and 3rd percentiles of weight and height of the pediatric general population correspond to the 97th and 50th percentiles of patients with SDS aged 0–18 years, respectively. In addition, the percentage increment in weight of subjects aged 14–18 years was higher in patients with SDS than in the general population. SDS-specific growth charts, such as those described here, afford a new tool, which is potentially useful for both clinical and research purposes in SDS. Full article

Background: Among malignant diseases which develop during childhood, hematological cancers, such as leukemias and lymphomas, are the most common. Outcomes have greatly improved due to the refinement of multiagent chemotherapy regimens that include enhanced asparaginase therapy. In this study, we aimed to evaluate our experiences related to the analytical and clinical significance of determining l-Asparaginase activity. Methods: Since 2016, the Laboratory of the Children’s Hospital Zagreb has routinely measured l-Asparaginase activity and to date, has measured more than 280 examples of activity in a total of 57 children with hematological malignancy treated at the Pediatric Oncology Department of the Children’s Hospital Zagreb. Three asparaginase products were available: native E. colil-Asparaginase; a pegylated form of this enzyme; and a native product from Erwinia chrysanthemi. A retrospective data analysis was performed. Results: Out of the fifty-seven children, seven had an allergic reaction (12.3%), five (8.8%) had silent inactivation, and seven (12.3%) developed acute pancreatitis. Allergic reactions and silent inactivation were more common in children treated with native E. colil-Asparaginase, while pancreatitis was more common in children treated with the pegylated form. Conclusions: The monitoring of l-Asparaginase activity may help to optimize therapy by identifying patients with ‘silent inactivation’, and/or by dose correction when l-Asparaginase activity is too high (slow elimination). Full article

Nucleated red blood cells (NRBCs) are premature erythrocyte precursors that reside in the bone marrow of humans of all ages as an element of erythropoiesis. They rarely present in healthy adults’ circulatory systems but can be found circulating in fetuses and neonates. An NRBC count is a cost-effective laboratory test that is currently rarely used in everyday clinical practice; it is mostly used in the diagnosis of hematological diseases/disorders relating to erythropoiesis, anemia, or hemolysis. However, according to several studies, it may be used as a biomarker in the diagnosis and clinical outcome prognosis of preterm infants or severely ill adult patients. This would allow for a quick diagnosis of life-threatening conditions and the prediction of a possible change in a patient’s condition, especially in relation to patients in the intensive care unit. In this review, we sought to summarize the possible use of NRBCs as a prognostic marker in various disease entities. Research into the evaluation of the NRBCs in the pediatric population most often concerns neonatal hypoxia, the occurrence and consequences of asphyxia, and overall neonatal mortality. Among adults, NRBCs can be used to predict changes in clinical condition and mortality in critically ill patients, including those with sepsis, trauma, ARDS, acute pancreatitis, or severe cardiovascular disease. Full article

Pancreatic neuroendocrine tumors (PNETs) are relatively rare, especially in the pediatric age group. This report describes a pediatric case of acute pancreatitis secondary to stenosis of the main pancreatic duct due to a PNET. The patient was a boy, thirteen and a half years old, who presented with persistent low-grade fever, nausea, and abdominal pain. He was diagnosed with acute pancreatitis based on the elevation of serum pancreatic enzyme levels and abdominal ultrasonography findings of enlargement of the pancreas and dilatation of the main pancreatic duct. Abdominal contrast-enhanced computed tomography (CT) showed a 5.5 mm, contrast-enhanced mass in the head of the pancreas. His symptoms resolved with conservative treatment, although the pancreatic tumor grew slowly. At fifteen years and four months, since the tumor had enlarged to 8.0 mm, the patient underwent pancreaticoduodenectomy for therapeutic and diagnostic purposes. Based on the pathological evaluation, he was diagnosed with PNET (grade: G1). The patient has been free of tumor recurrence for 10 years and requires no additional therapy. In this report, the clinical characteristics of PNETs are also discussed, comparing the clinical features of adult-onset and pediatric-onset cases that initially present as acute pancreatitis. Full article

Hypertriglyceridemia is a lipid disorder with a varying prevalence; it is very common if we consider triglyceride plasma values slightly above the threshold, whereas it is extremely rare if only severely elevated triglyceride levels are considered. In most cases, severe forms of hypertriglyceridemia are caused by genetic mutations in the genes that regulate triglyceride metabolism, thus leading to extreme triglyceride plasma values and acute pancreatitis risk. Secondary forms of hypertriglyceridemia are usually less severe and are mainly associated with weight excess, but they can also be linked to liver, kidney, endocrinologic, or autoimmune diseases or to some class of drugs. Nutritional intervention is the milestone treatment for patients with hypertriglyceridemia and it has to be modulated on the underlying cause and on triglyceride plasma levels. In pediatric patients, nutritional intervention must be tailored according to specific age-related energy, growth and neurodevelopment requests. Nutritional intervention is extremely strict in case of severe hypertriglyceridemia, whereas it is similar to good healthy nutritional habits counselling for mild forms, mainly related to wrong habits and lifestyles, and to secondary causes. The aim of this narrative review is to define different nutritional intervention for various forms of hypertriglyceridemia in children and adolescents. Full article

Fluid therapy is the cornerstone of early supportive therapy in acute pancreatitis (AP). Regrettably, the type of fluid is still debated among clinicians, despite recent evidence from randomized controlled trials (RCTs). We aimed to incorporate all evidence from RCTs comparing lactated Ringer’s solution (LR) with normal saline (NS) in adult and pediatric AP patients, with particular emphasis on clinically relevant outcomes. We evaluated RCTs comparing intravenous fluid resuscitation with LR to NS in adult or pediatric AP patients according to a prospectively registered protocol (CRD42021224542). Moderate-to-severe AP (MSAP), mortality, length of hospitalization (LoH), need for intensive care, the incidence of systemic (organ failure, OF) and local complications (in total), necrosis and pseudocyst formation were analyzed separately. Risk ratio (RR) and median difference (MD) were calculated with 95% confidence intervals (CI) using a random effect model. Risk of bias and quality of evidence were assessed. Altogether, 8 eligible RCTs were found, including 557 patients (LR: 278; NS: 279). LR reduced the risk of MSAP by 31% (RR: 0.59, 95% CI: 0.36–0.97, high quality) and the risk of death by 62% (RR: 0.48; 95% CI: 0.24–0.98, very low quality). LR was associated with a significantly lower risk of need for intensive care (RR: 0.50, 95% CI: 0.33–0.77), OF (RR: 0.78, 95% CI: 0.61–0.99) and local complications (RR: 0.64, 95% CI: 0.46–0.89). No significant risk reduction was observed for LoH (MD: −0.57 days, CI: −1.33–0.19), necrosis, pseudocyst and inflammatory parameters by LR compared to NS. LR reduces severity, mortality, need of intensive care and systemic and local complications in AP. Full article

Background: In recent years, complicated biliary tract diseases are increasingly diagnosed in children. Laparoscopic exploration of the common bile duct (LCBDE) followed by laparoscopic cholecystectomy has gained popularity in children. The aim of this study was to investigate the outcomes of LCBDE in children and compare them with the treatment outcomes of previously used endoscopic retrograde cholangiopancreatography (ERCP). Methods: From January 2000 to January 2022, a total of 84 children (78.5% female) underwent laparoscopic cholecystectomy with a median follow-up of 11.4 (IQR 8, 14) years. Of these, 6 children underwent laparoscopic cholecystectomy (LC) + ERCP and 14 children underwent LCBDE for choledochiothiasis. The primary end point of the study was the success of treatment in terms of the incidence of complications, recurrence rate, and rate of reoperation. Secondary endpoints were stone characteristics, presenting symptoms, duration of surgery, and length of hospital stay. Results: The majority of patients were female in both groups (83.5% vs. 85.7%), mostly overweight with a median BMI of 27.9 kg/m² and 27.4 kg/m², respectively. Obstructive jaundice, colicky pain, acute pancreatitis, and obstruction of the papilla were the most common symptoms in both groups. The majority of patients (68%) had one stone, whereas two or more stones were found in 32% of patients. The median diameter of the common bile duct was 9 mm in both groups. The procedure was successfully completed in all patients in the ERCP group. In the group of patients treated with LCBDE, endoscopic extraction of the stone with a Dormia basket was successfully performed in ten patients (71.4%), while in the remaining four patients (28.6%) the stones were fragmented with a laser because extraction with the Dormia basket was not possible. The median operative time was 79 min in the LCBDE group (IQR 68, 98), while it was slightly longer in the ERCP group, 85 min (IQR 74, 105) (p = 0.125). The length of hospital stay was significantly shorter in the LCBDE group (2 vs. 4 days, p = 0.011). No complications occurred in the LCBDE group, while two (40%) complications occurred in the ERCP group: pancreatitis and cholangitis (p = 0.078). During the follow-up period, no conversions, papillotomies, or recurrences were recorded in either group. Conclusions: Exploration of the common bile duct and removal of stones by LCBDE is safe and feasible in pediatric patients for the treatment of choledocholithiasis. Through this procedure, choledocholithiasis and cholelithiasis can be treated in a single procedure without papillotomy or fluoroscopy. Compared with LC + ERCP, LCBDE is associated with a shorter hospital stay. The incidence of complications was rather low but not statistically significant. Full article

Hypertriglyceridemia induced acute pancreatitis is a rare cause of pancreatitis in children. Hepatic lipase deficiency is an extremely rare cause of hypertriglyceridemia, reported in only a few families to date. Hepatic lipase is the enzyme involved in the hydrolysis of triglycerides and phospholipids in remnants of triglyceride-rich lipoproteins that have a role in the conversion of very low density lipoprotein remnants to low density lipoproteins. Hepatic lipase deficiency is inherited in an autosomal recessive pattern. Detection of heterozygous carriers of hepatic lipase mutations remains accidental at the population level, as affected persons with a heterozygous state of hepatic lipase mutation do not display specific lipoprotein abnormalities and also patients with complete hepatic lipase deficiency have inconstant phenotype. The proximal promoter of the LIPC gene consists of four polymorphic sites in complete linkage disequilibrium. Five missense mutations in encoding exons have been described and proved to be responsible for hepatic lipase deficiency to date: S267F, T383M, L334F, A174T, and R186H, affecting the activity and secretion of hepatic lipase. We identified a primary disorder of the lipid metabolism as the cause of the acute episode of pancreatitis in a four years old patient, consisting of hepatic lipase deficiency caused by a novel genetic variant of the LIPC gene, a gross deletion of the genomic region encompassing exon 1. This variant was not previously described in the literature in persons with LIPC-related disorders and its significance is currently uncertain, but in the presented clinical and paraclinical context, it has the characteristics of a pathological variant inducing a hepatic lipase deficiency phenotype. Full article

(1) Background: Familial chylomicronemia syndrome (FCS) is a very rare autosomal recessive disorder characterized by severely elevated triglycerides and clinical symptoms in early childhood mainly presenting with abdominal pain, acute pancreatitis and hepatosplenomegaly. Primary treatment is a lifelong very strict low-fat diet, which might be challenging in pediatric patients. So far, data about children with FCS are rare. The aim of this study was to show the familial chylomicronemia syndrome traffic light table for pediatric patients and to assess the dietary fat intake and impact on triglycerides in children with FCS. (2) Methods: We performed a retrospective analysis in four children (50% male) affected by FCS from the Department of Pediatrics and Adolescent Medicine, Medical University of Vienna between January 2002 and September 2020. (3) Results: The four patients presented with classical FCS symptoms and showed baseline triglycerides (TG) exceeding 30,000 mg/dL in two patients, 10,000 mg/dL and 2400 mg/dL in one patient each. After diagnosis, fat percentage of total daily caloric intake was decreased and resulted immediately in triglyceride reduction. In all patients, FCS was genetically confirmed by mutations in genes encoding lipoprotein lipase. Acute pancreatitis and hepatosplenomegaly disappeared under the fat-restricted diet. A FCS traffic light table was developed as a dietary tool for affected families. (4) Conclusions: A restriction of dietary fat between 10% to 26% of the total daily caloric intake was feasible and effective in the long-term treatment of genetically confirmed FCS in children and could reduce the risk for acute pancreatitis. The dietary tool, the pediatric FCS traffic light table and the age-appropriate portion sizes for patients between 1 to 18 years, supports children and their parents to achieve and adhere to the lifelong strict low-fat diet. Full article