Deficiency In Pediatric Patients Research Articles

Cardiometabolic factors and vitamin D deficiency in pediatric patients with chronic kidney disease.

Patients with chronic kidney disease (CKD) are at increased risk for cardiovascular disease. Up to 80% of patients with CKD may exhibit inadequate vitamin D (VD) levels, which have been linked to the presence of cardiometabolic factors (CFs) in the adult population. However, research on this association in the pediatric population is limited. To analyze the effects of 25-hydroxyvitamin D3 (25-[OH]D) levels and status on the presence of CFs in children receiving kidney replacement therapy (KRT). This cross-sectional study included pediatric patients receiving KRT, aged 8-17 years, who were receiving hemodialysis or peritoneal dialysis from January 2021 to March 2024. We conducted anthropometric measurements, blood pressure assessments, and glucose, 25-(OH)D, and lipid profiling for all participants. The daily dose of cholecalciferol supplementation, as well as other medications affecting bone and lipid metabolism and antihypertensive drugs, were documented. Statistical analyses were performed using Student's t-tests and chi-square tests to compare the CFs between groups with and without VD deficiency. The study involved 156 patients with an average age of 12.9 years and a mean serum VD level of 22.5 ng/dL. Patients with VD deficiency presented higher levels of total cholesterol and diastolic blood pressure (p < 0.05). No statistically significant differences were found in other biochemical profile variables or in the frequency of cardiometabolic factors. Vitamin D deficiency seems to increase the risk of dyslipidemia and uncontrolled hypertension in children and adolescents with end-stage CKD.

Acquired and Inherited Zinc Deficiency-Related Diseases in Children: A Case Series and a Narrative Review.

Zinc deficiency is a significant global health concern among children, manifesting in various acquired and inherited conditions. This comprehensive overview of acquired and inherited zinc deficiency-related diseases in children aimed to explore the clinical presentations, diagnostic challenges, and management strategies associated with these conditions. This case series elucidates the diverse clinical manifestations of zinc deficiency in pediatric patients, ranging from dermatitis and growth retardation to immune dysregulation and neurological abnormalities, and discusses the underlying genetic mechanisms, clinical phenotypes, and therapeutic interventions. The complexity of zinc deficiency-related diseases in children underscores the need for a multidisciplinary approach involving pediatricians, dermatologists, geneticists, and nutritionists to optimize patient care and outcomes.

High Prevalence of Cochlear Nerve Deficiency in Pediatric Patients With Cochlear Aperture Stenosis.

Cochlear nerve deficiency (CND) is a common radiologic finding among unilateral sensorineural hearing loss (USNHL) patients. It is generally detected with magnetic resonance imaging (MRI), which is associated with higher cost, less availability, and possible need for sedation. Therefore, identifying computed tomography (CT) findings, such as cochlear aperture stenosis (CAS), that can reliably predict CND is valuable. Our study aimed to determine the prevalence of CND in pediatric patients with CT-diagnosed CAS. Retrospective study. Tertiary care center. We included pediatric patients diagnosed with CAS on temporal bone CT and with available temporal bone MRI. For each patient, an otolaryngologist and a pediatric neuroradiologist measured the cochlear aperture width on CT to confirm CAS (cochlear aperture < 1.4 mm) and assessed the status of the cochlear nerve on MRI. Fifty-five patients, representing 65 ears, had CAS on CT measurement. Median cochlear aperture width in CAS ears was 0.70 mm (interquartilerange [IQR]: 0.40-1.05 mm) versus 2.00 mm in non-CAS ears (IQR: 1.80-2.30 mm, P < .001). CND was found in 98.5% (n = 64/65) of CAS ears, while a normal cochlear nerve was found in 1.5% (n = 1/65) of CAS ears. CND is highly prevalent among pediatric patients with CAS. This suggests that MRI may not be needed to assess for CND in USNHL patients with CAS, as initial CT may provide sufficient information to determine cochlear implant candidacy. We recommend thoughtful shared decision-making with parents of USNHL patients when determining whether to pursue MRI in the setting of a CAS diagnosis.

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.

Hypopituitarism, or the failure to secrete hormones produced by the anterior pituitary (adenohypophysis) and/or to release hormones from the posterior pituitary (neurohypophysis), can be congenital or acquired. When more than one pituitary hormone axis is impaired, the condition is known as combined pituitary hormone deficiency (CPHD). The deficiency may be primarily due to a hypothalamic or to a pituitary disorder, or concomitantly both, and has a negative impact on target organ function. This review focuses on the pathophysiology, diagnosis and management of anterior pituitary hormone deficiency in the pediatric age. Congenital hypopituitarism is generally due to genetic disorders and requires early medical attention. Exposure to toxicants or intrauterine infections should also be considered as potential etiologies. The molecular mechanisms underlying the fetal development of the hypothalamus and the pituitary are well characterized, and variants in the genes involved therein may explain the pathophysiology of congenital hypopituitarism: mutations in the genes expressed in the earliest stages are usually associated with syndromic forms whereas variants in genes involved in later stages of pituitary development result in non-syndromic forms with more specific hormone deficiencies. Tumors or lesions of the (peri)sellar region, cranial radiation therapy, traumatic brain injury and, more rarely, other inflammatory or infectious lesions represent the etiologies of acquired hypopituitarism. Hormone replacement is the general strategy, with critical periods of postnatal life requiring specific attention.

Comparative Analysis of Qualitative G6PDH Assay with Gold Standard Quantitative Assay to Detect G6PD Deficiency in Pediatric Patients

Background: G6PD is the rate limiting enzyme in the pentose phosphate pathway that protects human cells from oxidative stress. G6PD deficiency is one of the most common enzymopathies in humans, affecting an estimated 400 million individuals worldwide. The main objective of our study is to Compare diagnostic accuracy of screening qualitative G6PDH assay with standard quantitative assay. Methodology and Results: This is 2 years study comprising 250 confirmed cases of G6PD deficiency by UDILIPSE G6PD quantitative assay. Of which 210 were boys and 40 were girls. 40 cases were reported as false Normal by G6PDH screening assay in boys and 28 in girls. Discussion: Our results were comparable to studies conducted by Mohammed islam, Daae LN et al., Bancone G et al., Kahn M et al., Conclusion: It can be safely concluded that male patients with suspected G6PD deficiency can be screened for G6PDH assay and if tests are indeterminate then can be proceed to quantitative assay. For female patients it is recommended to omit screening test and can directly perform quantitative G6PDH assay in order not to miss G6PD deficient carriers.

Evaluating for Iron Deficiency in Pediatric Patients Obtaining a Hemoglobinopathy Evaluation

Background Low ferritin levels have been previously described to lower HbA 2 percentages on hemoglobinopathy evaluation. At our institution we have incorporated serum ferritin levels into an expanded panel test for thalassemia and hemoglobinopathy to assist with interpretation. There have been many critiques on the reference ranges used to define low ferritin in various pediatric ages. Lower ferritin levels, even in the absence of anemia or microcytosis, have been ascribed to nonspecific symptoms such as fatigue, weakness, difficulty concentrating, and decreased productivity that could be misconstrued as an attention-deficit disorder, especially in children. A hemoglobinopathy evaluation is often the first occasion for ferritin testing in patients; therefore, the hemoglobinopathy evaluation can serve as a key checkpoint to detect iron deficiency allowing for prompt treatment and amelioration of symptoms. Objective The purpose of this study was to evaluate the relationship between ferritin levels and the occurrence of hemoglobinopathies among pediatric patients in a single institution with the expectation that patients obtaining a hemoglobinopathy workup would be more likely to have a low ferritin (null hypothesis: there is no difference in the ferritin levels between patients receiving a hemoglobinopathy workup). The second hypothesis was that hemoglobinopathy testing would be done in a stepwise manner so at least 50% of patients obtaining a hemoglobinopathy workup would have prior interventions such as iron supplementation (null hypothesis: patients obtaining hemoglobinopathy evaluation have less prior interventions such as iron supplementation). Design/Method This retrospective, single center study included patients aged 0-18 years who had their first thalassemia and hemoglobinopathy testing for any indication between January 1, 2023 and July 28, 2023. Clinical variables were collected via review of the medical record. Low ferritin was defined as a ferritin level less than or equal to 25 mcg/L. Pearson's Chi Squared test and the Kruskal Wallis test were used for statistical analysis of categorical and continuous variables respectively. Results Seventy-seven total eligible patients were identified. Of those patients 35 were found to have low ferritin levels (45.5%). Among the patients with a low ferritin level, 15 patients also had a hemoglobinopathy present on their testing (41.7%) but there was no significant difference compared to those with normal ferritin levels (p value = 0.467). The patients with normal ferritin levels were of a significantly higher age compared to those with low ferritin levels 12.2 years vs 6.8 years (p value = 0.001) and 14 (42.4%) patients with low ferritin had no anemia and 29 (82.9%) never received prior iron supplementation. It was also noted that patients of Asian race were significantly more likely to have received prior iron supplementation 27.3% (p value = 0.004). Among patients with a hemoglobinopathy present the average age of their diagnosis was 9.1 years (95% Confidence Interval 6.6-11.7 years). Nine of the 10 patients with no hemoglobin values available were tested due to college sports participation and only 2 of those patients were found to have low ferritins. Conclusion Among our group of pediatric patients who underwent evaluation for thalassemia and hemoglobinopathy, there was no significant difference between those having a hemoglobinopathy present and lower or higher ferritin levels. Iron deficiency was more often noted among the younger patients even in the absence of anemia. It was important to note the majority of patients with iron deficiency detected on the hemoglobinopathy evaluation had never received prior iron supplementation until the time of their hemoglobinopathy evaluation. This also demonstrates that many providers may not do a stepwise workup but order all the evaluations at once. As there are many nonspecific symptoms of iron deficiency that can hinder the development of a child it is valuable to detect iron deficiency on hemoglobinopathy testing in order to intervene as soon as possible as iron deficiency can be masked by normal hemoglobin and normocytosis. Further investigation with larger study groups is warranted to better elucidate this relationship. Overall, our results suggest that enhanced characterization of iron deficiency parameters for patients receiving a hemoglobinopathy evaluation is warranted.

Composite lipid emulsion use and essential fatty acid deficiency in pediatric patients with intestinal failure with high parenteral nutrition dependence: A retrospective cohort study.

Reports of essential fatty acid deficiency (EFAD) in patients receiving parenteral nutrition (PN) and a composite lipid (mixed oil intravenous lipid emulsion [MO ILE]) are predominantly when managed by lipid restriction. The objective of this study was to determine the prevalence of EFAD in patients with intestinal failure (IF) who are PN dependent without lipid restriction. We retrospectively evaluated patients, ages 0-17 years, followed by our intestinal rehabilitation program between November 2020 and June 2021 with PN dependency index (PNDI) of >80% on a MO ILE. Demographic data, PN composition, PN days, growth, and plasma fatty acid profile were collected. A plasma triene-tetraene (T:T) ratio >0.2 indicated EFAD. Summary statistics and Wilcoxon rank sum test evaluated to compare between PNDI category and ILE administration (grams/kilograms/day). P < 0.05 was considered significant. Twenty-six patients (median age, 4.1 years [interquartile range (IQR) = 2.4-9.6]) were included. The median duration of PN was 1367 days (IQR = 824-3195). Sixteen patients had a PNDI of 80%-120% (61.5%). Fat intake for the group was 1.7 g/kg/day (IQR = 1.3-2.0). The median T:T ratio was 0.1 (IQR = 0.1-0.2) with no values >0.2. Linoleic and arachidonic acid were low in 85% and 19% of patients, respectively; however, Mead acid was normal in all patients. This report is the largest to date on the EFA status of patients with IF on PN. These results suggest that, in the absence of lipid restriction, EFAD is not a concern when using MO ILEs in children receiving PN for IF.

Association of zinc deficiency with infectious complications in pediatric hematopoietic stem cell transplantation patients.

Zinc plays essential roles in immune function and epithelial integrity. Patients undergoing hematopoietic stem cell transplantation (HSCT) often have low plasma zinc levels because of poor intake and diarrhea. We hypothesized that patients with zinc deficiency before HSCT had worse infectious complications after HSCT compared with patients with normal zinc levels. Citrulline, a marker of intestinal integrity, was also hypothesized to be lower in patients with zinc deficiency. Thirty patients undergoing HSCT at Ramathibodi Hospital during March 2020-September 2021 were enrolled. Blood samples for plasma zinc and citrulline were collected during the HSCT period. The 14- and 90-day outcomes after HSCT were prospectively recorded. Twelve of 30 (40%) patients had zinc deficiency before HSCT. Zinc-deficient patients were younger (median (interquartile range): 6 (8.8) vs 13 (5.8) years old; p = 0.017). Zinc levels tended to increase after admission in both groups. Patients with zinc deficiency had lower citrulline levels than those with normal zinc levels. Citrulline levels decreased in both groups after stem cell infusion, and the level was not significantly different between the two groups. Zinc-deficient patients had a higher rate of bacterial infection within 90 days after HSCT than those with normal zinc levels (6 in 12 patients (50.0%) vs 1 in 18 patients (5.6%); odds ratio [OR]: 17.0; 95% confidence interval [CI]: 1.68-171.70; p = 0.016). This remained significant after adjustments for age (adjusted OR: 12.31; 95% CI: 1.084-139.92; p = 0.043). The prevalence of zinc deficiency in pediatric patients undergoing HSCT was high. Zinc-deficient patients had lower citrulline levels and higher incidence of bacterial infection after HSCT. However, citrulline level was not different between patients with and without bacterial infections. It is worth to investigate whether zinc supplementation before HSCT can reduce bacterial infection after HSCT.

Clinical Usefulness of Blenderized Food for Selenium Deficiency in Pediatric Patients with Severe Motor and Intellectual Disabilities

Introduction: This study aimed to assess the preventive or therapeutic effects of blenderized food (BF) on selenium deficiency in pediatric patients with severe motor and intellectual disabilities (SMID). Methods: The medical records of all 40 consecutive pediatric patients with SMID who underwent nutritional assessment were retrospectively reviewed and compared between two groups: the enteral formula (EF) group and the BF group fed with BF providing more than 10% of total caloric intake. Next, for the selenium-deficient patients who were newly started on blenderized tube feeds after the first nutritional assessment, improvement of selenium deficiency and change of dietary contents were assessed. Results: The BF group patients had a significantly lower prevalence of selenium deficiency and higher serum selenium levels than the EF group patients. In all 7 selenium-deficient patients who started blenderized tube feeds after the first nutritional assessment, serum selenium levels were significantly increased at the second nutritional assessment, even though total selenium intake, selenium intake by EF, and total caloric intake did not differ significantly, and, in fact, caloric intake was significantly decreased by EF. Conclusion: Combined feeding of BFs can be useful for prevention and therapy of selenium deficiency in pediatric SMID patients.

Spotlight on Lonapegsomatropin Once-Weekly Injection and Its Potential in the Treatment of Growth Hormone Deficiency in Pediatric Patients.

Lonapegsomatropin, a long-acting GH therapy (LAGH), was approved by the United States Food and Drug Administration in August 2021 for the treatment of pediatric growth hormone deficiency (GHD). Lonapegsomatropin is a prodrug consisting of unmodified GH transiently conjugated to methoxypolyethylene glycol which enables time-release of GH with a half-life of ~25 hours allowing for once-weekly administration. Clinical trials of lonapegsomatropin have demonstrated positive efficacy results in children (phase 2 and 3) and adults (phase 2) with GHD. The phase 3 trial in children with GHD established non-inferiority and statistical superiority of height velocity with lonapegsomatropin (11.2 cm/yr) compared to daily GH (10.3 cm/yr), with no concerning side effects with lonapegsomatropin. Similar growth responses have been reported in other LAGH products in phase 2 (somapacitan) and phase 3 (somatrogon) trials. Lonapegsomatropin is distributed in temperature-stable, prefilled cartridges at 9 different doses that can be prescribed based upon specific weight brackets designed to deliver approximately 0.24 mg/kg/wk. An electronic delivery device is required to combine the powdered medication with the diluent and deliver the medication subcutaneously through a small gauge needle to the recipient. The pharmacodynamic data from the clinical trials of lonapegsomatropin has been used to develop models to estimate an average IGF-1 value drawn at any time during the weekly injection interval. This average IGF-1 value may be used to for safety monitoring and/or to guide dose adjustment. New LAGH products, including lonapegsomatropin, may potentially improve patient adherence, quality of life and clinical outcomes, particularly in patients with poor adherence to daily GH injections in the future. With the availability of new LAGH products, clinicians will need to identify the best candidates for LAGH therapy and understand how to monitor and adjust therapy. Long-term surveillance studies are needed to demonstrate adherence, efficacy, cost-effectiveness and safety of LAGH preparations.

Disaccharidase Deficiency in Pediatric Patients with Inflammatory Bowel Disease

Background: Disaccharidase (DS) deficiencies have been reported in pediatric patients with inflammatory bowel disease (IBD), but the relationship between duodenal inflammation and DS deficiency has not been evaluated outside of lactase deficiency. Methods: This study assessed DS levels and DS deficiencies in pediatric IBD patients who underwent endoscopy with assessment of DS activity. Records were reviewed for IBD subtype, pathology findings, and the results of DS analysis. Results: A total of 136 patients were identified. Overall, 89 (65.4%) patients had a diagnosis of Crohn’s disease (CD), 31 (22.8%) patients had a diagnosis of ulcerative colitis (UC), and 16 (11.8%) patients had a diagnosis of indeterminant colitis. Lactase deficiency was identified in 55.9% of patients, followed by maltase deficiency (19.9%), sucrase and palatinase deficiency (14%), and pan-deficiency (12.5%). When analyzing only patients with CD, patients with duodenitis were more likely to exhibit sucrase deficiency, palatinase deficiency, and pan-deficiency with a trend towards maltase deficiency. Conclusions: The most common DS deficiency was lactase deficiency; however, this was not related to duodenal inflammation. Pediatric patients with CD and duodenal inflammation exhibit DS deficiencies, namely, sucrase, palatinase, and pan-deficiency. Dietary adjustments may be warranted temporarily until duodenal inflammation is healed in patients with CD and duodenitis.

Surgical treatment of children with extensive bone defects (Literature review)

BACKGROUND: Reconstruction of extensive defects to bone tissue is one of the important problems of orthopedics and traumatology. Especially in acuteis, the problem is associated with the restoration of bone tissue in conditions of its deficiency in pediatric patients.&#x0D; AIM: The aim of the study is to analyze modern methods of surgical treatment in children with extensive bone tissue injuries based on the published literature.&#x0D; MATERIALS AND METHODS: Our report presents a review of the literature of methods of surgical treatment of extensive bone defects. The literature search was carried out in several databases such as PubMed, ScienceDirect, E-library, GoogleScholar for the period from 2005 to 2020, using the keywords given below. As a result of the search, 105 foreign and 37 domestic sources were found. After exclusion, 56 articles were analyzed, all presented works were published in the last 15 years.&#x0D; RESULTS: The gold standard for replacing bone defects is still the use of autografts, including the use of technologies on a vascular pedicle. Various types of xenografts and allografts of bone tissue are increasingly being replaced by various kinds of synthetic implants.&#x0D; CONCLUSIONS: To date, there is no single generally accepted standard for the surgical treatment of extensive bone defects. The option of surgical treatment of extensive bone tissue defects using tissue-engineered bone implants with axial blood supply seems to be extremely interesting and promising.

Stoss therapy is safe for treatment of vitamin D deficiency in pediatric patients undergoing HSCT.

Vitamin D deficiency remains common among pediatric patients undergoing hematopoietic stem cell transplant (HSCT) despite both aggressive and standard of care strategies. This study examined the safety and efficacy of single high-dose oral vitamin D therapy (Stoss therapy) for treatment of vitamin D deficiency in HSCT recipients. Patients ages 1-21 years presenting for HSCT were randomized to receive either Stoss regimen plus weekly/daily supplementation or standard of care, per US Endocrine Society guidelines. Among the total 48 subjects, 22 (46%) were randomized to Stoss and 26 (54%) to control arms. Baseline 25-hydroxyvitamin D (25-OHD) levels were insufficient/deficient in total of 34 (71%) patients, without difference between treatment groups. The Stoss regimen was well tolerated and no toxicity was observed. At Day +30, mean 25-OHD levels were significantly higher (P = 0.04) with Stoss (42.3 ± 12 μg/l) compared to controls (35.6 ± 14.3 μg/l), and a higher proportion of Stoss patients had adequate vitamin D levels than controls (85% vs 65%). Stoss therapy is a safe and efficacious treatment option for vitamin D deficiency in children undergoing HSCT and may achieve sufficient levels more rapidly than standard of care. This trial was registered at www.clinicaltrials.gov as NCT03176849.

Specific Antibody Deficiency in Pediatric Patients with Chronic Rhinosinusitis

This study was performed to review our experience with pediatric patients adaptive immunity to <em>Streptococcus pneumoniae</em> and <em>Haemophilus influenza</em> in the clinical presentation of chronic rhinosinusitis. Currently, there is no specific routine role in healthcare to check the immune status in patients after receiving the vaccinations.

Prevalence of vitamin D deficiency in pediatric limb lengthening and deformity patients

Background: Vitamin D deficiency is one of the most common vitamin deficiencies in the world, afflicting over 1-billion children. Currently, there is a shortage of studies evaluating Vitamin D levels in pediatric limb lengthening or deformity correction (LLDC) patients. The purpose of this study is to determine the prevalence of Vitamin D deficiency in pediatric patients undergoing lower extremity osteotomies for LLDC. Materials and Methods: We retrospectively analyzed pediatric patients undergoing a lower extremity long bone osteotomy for lengthening/deformity correction at a single center from 2014 to 2018. Of 214 subjects, 80% had perioperative 25-hydroxyvitamin D (25[OH]D) levels available. Variables included age, sex, race, diagnosis, long bone treated, and perioperative 25(OH) D levels. Most patients were female, Caucasian, had a congenital diagnosis, and averaged 12.7 years old. Results: A single long bone was treated in 138 subjects (80%), while 19 patients (11%) underwent ipsilateral femur and tibial surgery and 15 patients (9%) underwent a bilateral surgery. The mean 25(OH)D level was 28.7 ng/mL. Deficient levels were found in 32% of subjects, and insufficient levels were found in an additional 41%. All patients healed appropriately. Conclusions: LLDC requires optimal bone metabolism for the generation of new bone. This study revealed a high proportion of Vitamin D insufficiency in pediatric limb-lengthening patients. Identifying these patients preoperatively may allow for Vitamin D “prehabilitation” to optimize bone health before limb-lengthening procedures in order to obtain satisfactory outcomes.

Prevalence of vitamin D deficiency and its relationship with epileptic severity in a pediatric department of tertiary care hospital

Aim To evaluate the prevalence of vitamin D deficiency in pediatric epileptic patients and to assess if there is any correlation between vitamin D level and disease severity in epileptic patients. Objective To estimate vitamin D deficiency and insufficiency as percentage of enrolled patients in pediatric department and to identify if there is any correlation between vitamin D deficiency and factors such as age, sex, BMI, total serum calcium levels, antiepileptic drugs, and types of seizures. Patients and methods A prospective interventional clinical study was carried out in a tertiary care hospital between September 2018 and February 2019. We included 30 pediatric epileptic patients of age group 1–14 years from whom the blood samples were withdrawn and were sent to the laboratory for the estimation of vitamin D levels. Results The data collected was analyzed using statistical method χ2 and analysis of variance in Prism 8.0 version. The prevalence of vitamin D deficiency and its correlation with epilepsy was determined. In this study, we found that there was a high prevalence of vitamin D deficiency in pediatric epileptic patients (23 patients out of 30–73%). The other risk factors for vitamin D deficiency found in this study are children of age group 5–10 years (43%), malnourished patients (40%), hypocalcemic patients (40%), and patients who use antiepileptic drugs for more than 2 years (57%). Conclusion Based on the aforementioned scientific analysis, it can be concluded that there is a high prevalence of vitamin D deficiency in pediatric patients with epilepsy. So, vitamin D3 supplements should be given for all epileptic children even before the initiation of antiepileptic therapy. Patients’ parents were educated on the importance of vitamin D.

Phosphorus Levels in Iron Deficient Children Treated with Ferric Carboxymaltose

INTRODUCTION Intravenous iron therapy in children with iron deficiency anemia (IDA) has previously been limited to those with severe or refractory anemia. However, increased availability of intravenous iron preparations with improved safety profiles has increased its utilization in both the adult and pediatric patient populations. Ferric carboxymaltose (FCM) was approved for adult patients by the Food and Drug Administration (FDA) in 2014 and has lower rates of severe allergic reactions. However, literature on adult patients has reported the development hypophosphatemia in up 50% of those receiving the drug. In early stages, hypophosphatemia can lead to abnormal bone mineral metabolism and hypercalciuria. Rickets and osteomalacia can result after prolonged hypophosphatemia. Severe, prolonged hypophosphatemia (&lt;1 mg/mL) is associated with neurologic, cardiopulmonary, muscular, and hematologic complications. Although not FDA approved for pediatric use, FCM is increasingly being utilized for IDA in children. Hypophosphatemia in children treated with FCM has not been formally evaluated or described. We sought to assess available phosphorus levels in children treated with FCM at a tertiary care center. METHODS This was a single center retrospective cohort study of all children who received FCM over the initial 2.5 year period for which the drug was added to our institution's formulary (November 1, 2016 through April 30, 2019). Pharmacy records of all FCM infusions administered over this period were obtained. Medical record numbers of all patients who received an infusion were then searched for any available phosphorus testing. Patients were included in the review if they had phosphorus laboratory results available from 1 to 6 weeks post-receipt of FCM and were less than 21 years of age at the time of infusion. Hypophosphatemia was defined as a phosphorus level below the lower limit of normal for age as delineated by our institution's central laboratory. Changes in phosphorus levels were calculated in those patients in whom pre-infusion phosphorus levels were also available within the 4 weeks prior to drug infusion. When multiple phosphorus levels were available within the post-infusion window, the lowest value was selected to calculate changes in levels. The electronic medical record (EMR) was reviewed in all patients in whom hypophosphatemia was identified to assess for administration of supplemental phosphorus, as well as other clinical factors that may affect phosphorus levels such as the administration of total parental nutrition (TPN) and/or renal medications (i.e. furosemide), as these are known risk factors for hypophosphatemia. RESULTS From November 1, 2016 through April 30, 2019, 1,081 infusions of FCM were administered in 656 patients. Post-infusion phosphorus testing was available in 165 patients in whom 247 infusions were administered (range 1 to 6). Patients' median age was 4.6 years (range 4 months to 20.6 years) and 56% (n=92) were female. Hypophosphatemia occurred after 36 (15%) infusions in 32 unique patients (19%). Six patients (19%) received potassium phosphorus supplementation (Table). In the 23 patients in whom phosphorus testing was available at 6 weeks, 15 (65%) continued to have phosphorus levels below the normal value for age. Of the entire cohort, pre- and post-infusion phosphorus levels were available relative to 197 infusions (80%) in 136 unique patients (82%). The median change in phosphorus was -0.6 mg/dL (IQR -0.1, -1.6). CONCLUSIONS The assessment of serum chemistries, including phosphorus, is not routinely performed in otherwise healthy children with iron deficiency. While over 650 children received over 1000 infusions of FCM during a 2.5 year period, only 165 patients had phosphorus testing available during the stated time frame of the infusion. In those in whom testing was available, and in which hypophosphatemia occurred, the majority were patients admitted to the hospital with co-morbid conditions or complex clinical care for which phosphorus levels may be affected. Our center has developed a clinical protocol to obtain baseline phosphorus levels in all children in whom intravenous FCM is being considered. Post FCM therapy, phosphorus monitoring is being performed to better identify those patients who may be at risk for hypophosphatemia and in whom phosphorus supplementation may be indicated. OffLabel Disclosure: Ferric carboxymaltose is FDA approved for treatment of iron deficiency in adults. This presentation will discuss the use of ferric carboxymaltose to treat iron deficiency in pediatric patients.

Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients.

Until now, the recognition of sodium taurocholate cotransporting polypeptide (NTCP) deficiency has been mainly based on sporadic case reports. It was previously believed to be mildly symptomatic and resulting in mild liver dysfunction. However, to our knowledge, there have been no reports about the histopathologic and ultrastructural pathologic characteristics of the disease. The aim of the study was to analyze the clinical, histopathologic and ultrastructural pathologic characteristics of NTCP deficiency in 13 pediatric patients.From August 2012 to October 2018, this retrospective study conducted in the Department of Pediatrics of Tongji Hospital, China analyzed the data of 13 NTCP deficient patients with an SLC10A1 gene mutation. Except for NTCP deficiency, no other liver diseases were present in the patients, which was determined by both a genetic testing panel for jaundice and by reviewing medical records. The laboratory results, imaging, histopathologic, and ultrastructural pathologic information were recorded for analysis.The serum level of total bile acid was high in all 13 patients. All patients had adequate growth and development. Eight of the patients (8/13) presented with visible jaundice and 12 (12/13) were found to have hyperbilirubinemia. A needle liver biopsy was performed in 11 cases, which revealed slightly chronic inflammation in all 11 patients. One of the patients (1/13) was found to be suffering from gallstones.The data showed that although NTCP deficiency was often asymptomatic, some of the patients showed obvious clinical expressions, such as jaundice. Among the 13 pediatric patients with NTCP deficiency, both the biochemical and histopathologic features were similar to those of mild hepatocellular jaundice. In addition, it was determined that the clinical features in the patient with gallstones may have been caused by NTCP deficiency.

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians\u2019 current practices

BackgroundPhenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of treatment through newborn screening has gradually shifted treatment goals from the prevention of disabling complications to the optimization of long term outcomes. However, clinical evidence demonstrates that subtle suboptimal neurocognitive outcomes are present in the early and continuously diet-treated population with PAH deficiency. This may be attributed to variation in blood phenylalanine levels to outside treatment range and this, in turn, is possibly due to a combination of factors; disease severity, dietary noncompliance and differences in practice related to the management of PAH deficiency. One of CIMDRN’s goals is to understand current practices in the diagnosis and management of PAH deficiency in the pediatric population, from the perspective of both health care providers and patients/families.ObjectivesWe investigated Canadian metabolic dietitians’ perspectives on the nutritional management of children with PAH deficiency, awareness of recently published North American treatment and nutritional guidelines in relation to PAH deficiency, and nutritional care practices within and outside these guidelines.MethodsWe invited 33 dietitians to participate in a survey, to ascertain their use of recently published guidelines and their practices in relation to the nutritional care of pediatric patients with PAH deficiency.ResultsWe received 19 responses (59% response rate). All participants reported awareness of published guidelines for managing PAH deficiency. To classify disease severity, 89% of dietitians reported using pre-treatment blood phenylalanine (Phe) levels, alone or in combination with other factors. 74% of dietitians reported using blood Phe levels ≥360 μmol/L (6 mg/dL) as the criterion for initiating a Phe-restricted diet. All respondents considered 120-360 μmol/L (2–6 mg/dL) as the optimal treatment range for blood Phe in children 0–9 years old, but there was less agreement on blood Phe targets for older children. Most dietitians reported similar approaches to diet assessment and counseling: monitoring growth trends, use of 3 day diet records for intake analysis, individualization of diet goals, counseling patients to count grams of dietary natural protein or milligrams of dietary Phe, and monitoring blood Phe, tyrosine and ferritin.ConclusionWhile Canadian dietitians’ practices in managing pediatric PAH deficiency are generally aligned with those of the American College of Medical Genetics and Genomics (ACMG), and with the associated treatment and nutritional guidelines from Genetic Metabolic Dietitians International (GMDI), variation in many aspects of care reflects ongoing uncertainty and a need for robust evidence.

HEREDITARY ANGIOEDEMA DUE TO C1-INHIBITOR DEFICIENCY IN PEDIATRIC PATIENTS IN CROATIA - FIRST NATIONAL STUDY, DIAGNOSTIC AND PROPHYLACTIC CHALLENGES.

SUMMARYHereditary angioedema (HAE) is a rare autosomal dominant disease with deficiency (type I) or dysfunction (type II) of C1 inhibitor, caused by mutations in the C1-INH gene, characterized by recurrent submucosal or subcutaneous edemas including skin swelling, abdominal pain and life-threatening episodes of upper airway obstruction. The aim of this study was to investigate healthcare experiences in children with HAE due to C1 inhibitor deficiency (C1-INH-HAE) in Croatia in order to estimate the number of affected children and to recommend management protocols for diagnosis, short-term prophylaxis and acute treatment. Patients were recruited during a 4-year period at five hospitals in Croatia. Complement testing was performed in patients with a positive family history. This pilot study revealed nine pediatric patients positive for C1-INH- HAE type I, aged 1-16 years, four of them asymptomatic. Before the age of one year, C1-INH levels may be lower than in adults; it is advisable to confirm C1-INH-HAE after the age of one year. Plasma-derived C1-INH is recommended as acute and short-term prophylactic treatment. Recombinant C1-INH and icatibant are licensed for the acute treatment of pediatric patients. In Croatia, HAE is still underdiagnosed in pediatric population.