The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria

The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal disease such as Alport syndrome. Proteinuria can lead to low ceruloplasmin since it is among serum proteins inappropriately filtered by the damaged glomerulus, and can also lead to increased urinary loss of heavy metals such as zinc and copper. Elevated transaminases may be attributed to dyslipidemia or drug induced hepatotoxicity. The accurate diagnosis of Wilson disease is essential for targeted therapy and improved prognosis. We describe a patient with a diagnosis of Alport syndrome who has had chronic elevation of transaminases eventually diagnosed with Wilson disease based on liver histology and genetics.The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal disease such as Alport syndrome. Proteinuria can lead to low ceruloplasmin since it is among serum proteins inappropriately filtered by the damaged glomerulus, and can also lead to increased urinary loss of heavy metals such as zinc and copper. Elevated transaminases may be attributed to dyslipidemia or drug induced hepatotoxicity. The accurate diagnosis of Wilson disease is essential for targeted therapy and improved prognosis. We describe a patient with a diagnosis of Alport syndrome who has had chronic elevation of transaminases eventually diagnosed with Wilson disease based on liver histology and genetics

Socioeconomic Impacts of Gluten-Free Diet among Saudi Children with Celiac Disease

Purpose: To determine the socio-economic impact of gluten free diet (GFD) on Saudi children and their families Methods: A cross-sectional study was conducted in which an online questionnaire was sent to all families registered in the Saudi celiac patients support group. We included only children (age 18 years of age and younger) with biop-sy-confirmed celiac disease (CD).Results: A total of 113 children were included in the final analysis, the median age was 9.9 years; 62.8% were females. One hundred (88.5%) of the participating families reported that GFD food was not easily available in their areas, 17% of them reported that it was not available at all in their area. One hundred and six (93.8%) reported that the price of GFD food was very expensive and 70 (61.9%) families that the diet was heavily affecting their family budget. Significant social difficulties were reported among the participating families and their children including interference with the child’s interaction with other children (49.6%), the families’ ability to attend social gatherings (60.2%), the families’ ability to eat in restaurants (73.5%), and the families’ ability to travel (58.4%). Conclusion: There is significant negative socio-economic impact of GFD on children with CD & their families. Health care providers should be aware of these psycho-social difficulties and be well trained to provide a proper education and psychological support for these patients and their families.Purpose: To determine the socio-economic impact of gluten free diet (GFD) on Saudi children and their families Methods: A cross-sectional study was conducted in which an online questionnaire was sent to all families registered in the Saudi celiac patients support group. We included only children (age 18 years of age and younger) with biop-sy-confirmed celiac disease (CD).Results: A total of 113 children were included in the final analysis, the median age was 9.9 years; 62.8% were females. One hundred (88.5%) of the participating families reported that GFD food was not easily available in their areas, 17% of them reported that it was not available at all in their area. One hundred and six (93.8%) reported that the price of GFD food was very expensive and 70 (61.9%) families that the diet was heavily affecting their family budget. Significant social difficulties were reported among the participating families and their children including interference with the child’s interaction with other children (49.6%), the families’ ability to attend social gatherings (60.2%), the families’ ability to eat in restaurants (73.5%), and the families’ ability to travel (58.4%). Conclusion: There is significant negative socio-economic impact of GFD on children with CD & their families. Health care providers should be aware of these psycho-social difficulties and be well trained to provide a proper education and psychological support for these patients and their families

Poor Prognostic Factors in Patients with Parenteral Nutrition-Dependent Pediatric Intestinal Failure

Purpose: Parenteral nutrition (PN) not only provides nutritional support but also plays a crucial role in the treatment of children with intestinal failure. The aim of this study was to evaluate the clinical significance and clinical outcomes of long-term PN.Methods: Retrospective cohort study was conducted using the medical records of patients treated at Seoul National University Children’s Hospital. This study included 19 patients who received PN for over six months. Most patients received home PN.Results: The indications for PN included short bowel syndrome, chronic intestinal pseudo-obstruction, and intract-able diarrhea of infancy. The median age of PN initiation was 1.3 years, and the median treatment duration was 2.9 years. Two patients were weaned from PN; 14 continued to receive PN with enteral feedings; and 3 patients died. The overall survival rates at 2 and 5 years were 93.3% and 84.0%, respectively. The incidence of catheter-re-lated bloodstream infections was 2.7/1,000 catheter-days and was associated with younger age at PN initiation and lower initial height Z-score. Six patients developed catheter-related central vein thrombosis, with an incidence of 0.25/1,000 catheter-days. Eleven patients experienced PN-associated liver disease (PNALD), and one patient un-derwent multi-visceral transplant. The patients with PNALD exhibited lower final heights and body weight Z-scores. All patients experienced micronutrient deficiencies transiently while receiving PN.Conclusion: PN is an important and safe treatment for pediatric intestinal failure. PNALD was linked to final anthro-pometric poor outcomes. Micronutrient deficiencies were common. Anthropometric measurements and micro-nutrient levels must be monitored for successful PN completion.Purpose: Parenteral nutrition (PN) not only provides nutritional support but also plays a crucial role in the treatment of children with intestinal failure. The aim of this study was to evaluate the clinical significance and clinical outcomes of long-term PN.Methods: Retrospective cohort study was conducted using the medical records of patients treated at Seoul National University Children’s Hospital. This study included 19 patients who received PN for over six months. Most patients received home PN.Results: The indications for PN included short bowel syndrome, chronic intestinal pseudo-obstruction, and intract-able diarrhea of infancy. The median age of PN initiation was 1.3 years, and the median treatment duration was 2.9 years. Two patients were weaned from PN; 14 continued to receive PN with enteral feedings; and 3 patients died. The overall survival rates at 2 and 5 years were 93.3% and 84.0%, respectively. The incidence of catheter-re-lated bloodstream infections was 2.7/1,000 catheter-days and was associated with younger age at PN initiation and lower initial height Z-score. Six patients developed catheter-related central vein thrombosis, with an incidence of 0.25/1,000 catheter-days. Eleven patients experienced PN-associated liver disease (PNALD), and one patient un-derwent multi-visceral transplant. The patients with PNALD exhibited lower final heights and body weight Z-scores. All patients experienced micronutrient deficiencies transiently while receiving PN.Conclusion: PN is an important and safe treatment for pediatric intestinal failure. PNALD was linked to final anthro-pometric poor outcomes. Micronutrient deficiencies were common. Anthropometric measurements and micro-nutrient levels must be monitored for successful PN completion

Middle East Consensus Statement on the Diagnosis and Management of Functional Gastrointestinal Disorders in <12 Months Old Infants

This paper covers algorithms for the management of regurgitation, constipation and infantile colic in infants. Anti-re-gurgitation formula may be considered in infants with troublesome regurgitation, while diagnostic investigations or drug therapy are not indicated in the absence of warning signs. Although probiotics have shown some positive evi-dence for the management of functional gastrointestinal disorders (FGIDs), the evidence is not strong enough to make a recommendation. A partially hydrolyzed infant formula with prebiotics and β-palmitate may be considered as a dietary intervention for functional constipation in formula fed infants. Lactulose has been shown to be effective and safe in infants younger than 6 months that are constipated. Macrogol (polyethylene glycol, PEG) is not approved for use in infants less than 6 months of age. However, PEG is preferred over lactulose in infants ＞6 months of age. Limited data suggests that infant formula with a partial hydrolysate, galacto-oligosaccharides/fructo-oligosac-charides, added β-palmitate may be of benefit in reducing infantile colic in formula fed infants in cases where cow’smilk protein allergy (CMPA) is not suspected. Evidence suggests that the use of extensively hydrolyzed infant formula for a formula-fed baby and a cow’s milk free diet for a breastfeeding mother may be beneficial to decrease infantile colic if CMPA is suspected. None of the FGIDs is a reason to stop breastfeeding.This paper covers algorithms for the management of regurgitation, constipation and infantile colic in infants. Anti-re-gurgitation formula may be considered in infants with troublesome regurgitation, while diagnostic investigations or drug therapy are not indicated in the absence of warning signs. Although probiotics have shown some positive evi-dence for the management of functional gastrointestinal disorders (FGIDs), the evidence is not strong enough to make a recommendation. A partially hydrolyzed infant formula with prebiotics and β-palmitate may be considered as a dietary intervention for functional constipation in formula fed infants. Lactulose has been shown to be effective and safe in infants younger than 6 months that are constipated. Macrogol (polyethylene glycol, PEG) is not approved for use in infants less than 6 months of age. However, PEG is preferred over lactulose in infants ＞6 months of age. Limited data suggests that infant formula with a partial hydrolysate, galacto-oligosaccharides/fructo-oligosac-charides, added β-palmitate may be of benefit in reducing infantile colic in formula fed infants in cases where cow’smilk protein allergy (CMPA) is not suspected. Evidence suggests that the use of extensively hydrolyzed infant formula for a formula-fed baby and a cow’s milk free diet for a breastfeeding mother may be beneficial to decrease infantile colic if CMPA is suspected. None of the FGIDs is a reason to stop breastfeeding

Factors Associated with Removal of Impactted Fishbone in Children, Suspected Ingestion

Purpose: The management and clinical course in pediatric patients who had ingested foreign body were investigated retrospectively to evaluate the frequency and factor associated with successful removal of fishbone foreign body.Methods: Based on the medical records of patients younger than 15 years old who visited emergency room because of foreign body ingestion from January 1999 to December 2012, the authors reviewed clinical characteristics including type of ingested foreign bodies, time to visits, managements and complications.Results: Fishbone (50.1%) was the most common ingested foreign body in children. Among 416 patients with in-gested fishbone, 245 (58.9%) were identified and removed using laryngoscope, rigid or flexible endoscope from pharynx or upper esophagus by otolaryngologists and pediatric gastroenterologists. The kind of ingested fish bone in children was diverse. The mean age of identified and removed fishbone group was 7.39 years old, and higher than that of unidentified fishbone group (5.81 years old, p＜0.001). Identified and removed fishbone group had shorter time until hospital visit than the unidentified fishbone group (2.03 vs. 6.47 hours, p＜0.001). No complication due to ingested fishbone or procedure occurred.Conclusion: Older age and shorter time from accident to hospital visit were the different factors between success and failure on removal of ingested fish bone in children.Purpose: The management and clinical course in pediatric patients who had ingested foreign body were investigated retrospectively to evaluate the frequency and factor associated with successful removal of fishbone foreign body.Methods: Based on the medical records of patients younger than 15 years old who visited emergency room because of foreign body ingestion from January 1999 to December 2012, the authors reviewed clinical characteristics including type of ingested foreign bodies, time to visits, managements and complications.Results: Fishbone (50.1%) was the most common ingested foreign body in children. Among 416 patients with in-gested fishbone, 245 (58.9%) were identified and removed using laryngoscope, rigid or flexible endoscope from pharynx or upper esophagus by otolaryngologists and pediatric gastroenterologists. The kind of ingested fish bone in children was diverse. The mean age of identified and removed fishbone group was 7.39 years old, and higher than that of unidentified fishbone group (5.81 years old, p＜0.001). Identified and removed fishbone group had shorter time until hospital visit than the unidentified fishbone group (2.03 vs. 6.47 hours, p＜0.001). No complication due to ingested fishbone or procedure occurred.Conclusion: Older age and shorter time from accident to hospital visit were the different factors between success and failure on removal of ingested fish bone in children

Associations among the Degree of Nonalcoholic Fatty Liver Disease, Metabolic Syndrome, Degree of Obesity in Children, and Parental Obesity

Purpose: To analyze the associations among the degrees of nonalcoholic fatty liver disease (NAFLD) by ultra-sonography and metabolic syndrome, degrees of obesity in children, and degrees of parental obesity. Methods: A total of 198 children with obesity who visited a pediatric obesity clinic were prospectively enrolled in this study. The severity of NAFLD based on ultrasonography was classified into no, mild, moderate, or severe NAFLD group. The degree of obesity based on the percentage over standard weight for height per sex was classified into mild, moderate, or severe. Results: Of 132 patients evaluated for the degree of NAFLD and metabolic syndrome, the p-value of correlation between the two factors was 0.009. Therefore, metabolic syndrome might significantly affect the degree of NAFLD. Of 158 patients evaluated for the degree of NAFLD and the degree of obesity, the p-value of correlation between the two factors was 0.122. Of 154 patients evaluated for the degree of obesity and father’s obesity, the p-value was 0.076. Of 159 patients evaluated for the degree of obesity and mother’s obesity, the p-value was 0.000, indicating that mother’s obesity could significantly affect the degree of obesity in children. Of 142 patients evaluated for the degree of obesity and metabolic syndrome, the p-value was 0.288. Conclusion: Metabolic syndrome might significantly affect the degree of nonalcoholic fatty liver in children. In addition, mother’s obesity might be a significant factor that affects the degree of obesity in children.Purpose: To analyze the associations among the degrees of nonalcoholic fatty liver disease (NAFLD) by ultra-sonography and metabolic syndrome, degrees of obesity in children, and degrees of parental obesity. Methods: A total of 198 children with obesity who visited a pediatric obesity clinic were prospectively enrolled in this study. The severity of NAFLD based on ultrasonography was classified into no, mild, moderate, or severe NAFLD group. The degree of obesity based on the percentage over standard weight for height per sex was classified into mild, moderate, or severe. Results: Of 132 patients evaluated for the degree of NAFLD and metabolic syndrome, the p-value of correlation between the two factors was 0.009. Therefore, metabolic syndrome might significantly affect the degree of NAFLD. Of 158 patients evaluated for the degree of NAFLD and the degree of obesity, the p-value of correlation between the two factors was 0.122. Of 154 patients evaluated for the degree of obesity and father’s obesity, the p-value was 0.076. Of 159 patients evaluated for the degree of obesity and mother’s obesity, the p-value was 0.000, indicating that mother’s obesity could significantly affect the degree of obesity in children. Of 142 patients evaluated for the degree of obesity and metabolic syndrome, the p-value was 0.288. Conclusion: Metabolic syndrome might significantly affect the degree of nonalcoholic fatty liver in children. In addition, mother’s obesity might be a significant factor that affects the degree of obesity in children

Cholestasis beyond the Neonatal and Infancy Periods

Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extra-hepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extra-hepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods

Nutrient Intakes and Hair Mineral Contents of Young Children

Purpose: This study was performed to evaluate the dietary nutrient intake status and hair mineral content of Korean young children.Methods: Fifty-five children who visited Seoul National University Bundang Hospital were divided into three groups by age: infants, toddlers, and preschoolers. The 24-hour recall method was used to collect the food intake data of the subjects. Hair mineral analysis was conducted using a Mass Spectrometer. Serum iron, ferritin, and calcium were also measured. Results: The mean energy intakes of the subjects were 730.3 kcal, 994.3 kcal, and 1,482.9 kcal for each age group. The mean percentage of energy intake compared to recommendation was 101.4% and was not different by age group. Toddlers of 37.8% and preschoolers of 54.5% consumed less than the Estimated Average Requirement (EAR) of calcium. Infants of 28.6%, toddlers of 10.8% and preschoolers of 9.1% consumed less than the EAR of iron. In the case of zinc, copper, and selenium, only 0% to 5% of toddlers and none of the preschoolers consumed less than the EAR of those minerals. The hair calcium, iron and copper concentrations were lower in toddlers and pre-schoolers than those in infants. Serum calcium levels of preschoolers were significantly lower than those of infants, whereas serum iron and ferritin levels were not.Conclusion: Hair calcium, iron, and copper concentrations were significantly lower in toddlers and preschoolers than in infants. Insufficient dietary intake of calcium and iron seems to be related with decreased hair mineral contents in young children.Purpose: This study was performed to evaluate the dietary nutrient intake status and hair mineral content of Korean young children.Methods: Fifty-five children who visited Seoul National University Bundang Hospital were divided into three groups by age: infants, toddlers, and preschoolers. The 24-hour recall method was used to collect the food intake data of the subjects. Hair mineral analysis was conducted using a Mass Spectrometer. Serum iron, ferritin, and calcium were also measured. Results: The mean energy intakes of the subjects were 730.3 kcal, 994.3 kcal, and 1,482.9 kcal for each age group. The mean percentage of energy intake compared to recommendation was 101.4% and was not different by age group. Toddlers of 37.8% and preschoolers of 54.5% consumed less than the Estimated Average Requirement (EAR) of calcium. Infants of 28.6%, toddlers of 10.8% and preschoolers of 9.1% consumed less than the EAR of iron. In the case of zinc, copper, and selenium, only 0% to 5% of toddlers and none of the preschoolers consumed less than the EAR of those minerals. The hair calcium, iron and copper concentrations were lower in toddlers and pre-schoolers than those in infants. Serum calcium levels of preschoolers were significantly lower than those of infants, whereas serum iron and ferritin levels were not.Conclusion: Hair calcium, iron, and copper concentrations were significantly lower in toddlers and preschoolers than in infants. Insufficient dietary intake of calcium and iron seems to be related with decreased hair mineral contents in young children

Gastroesophageal Reflux Affects Sleep Quality in Snoring Obese Children

Purpose: This study was performed to evaluate the quality of sleep in snoring obese children without obstructive sleep apnea (OSA); and to study the possible relationship between sleep interruption and gastroesophageal reflux (GER) in snoring obese children.Methods: Study subjects included 13 snoring obese children who were referred to our sleep lab for possible sleep-dis-ordered breathing. Patients underwent multichannel intraluminal impedance and esophageal pH monitoring with simultaneous polysomnography. Exclusion criteria included history of fundoplication, cystic fibrosis, and infants un-der the age of 2 years. Significant association between arousals and awakenings with previous reflux were defined by symptom-association probability using 2-minute intervals.Results: Sleep efficiency ranged from 67-97% (median 81%). A total of 111 reflux episodes (90% acidic) were de-tected during sleep, but there were more episodes per hour during awake periods after sleep onset than during sleep (median 2.3 vs. 0.6, p=0.04). There were 279 total awakenings during the sleep study; 56 (20.1%) of them in 9 patients (69.2%) were preceded by reflux episodes (55 acid, 1 non-acid). In 5 patients (38.5%), awakenings were significantly associated with reflux.Conclusion: The data suggest that acid GER causes sleep interruptions in obese children who have symptoms of snoring or restless sleep and without evidence of OSA.Purpose: This study was performed to evaluate the quality of sleep in snoring obese children without obstructive sleep apnea (OSA); and to study the possible relationship between sleep interruption and gastroesophageal reflux (GER) in snoring obese children.Methods: Study subjects included 13 snoring obese children who were referred to our sleep lab for possible sleep-dis-ordered breathing. Patients underwent multichannel intraluminal impedance and esophageal pH monitoring with simultaneous polysomnography. Exclusion criteria included history of fundoplication, cystic fibrosis, and infants un-der the age of 2 years. Significant association between arousals and awakenings with previous reflux were defined by symptom-association probability using 2-minute intervals.Results: Sleep efficiency ranged from 67-97% (median 81%). A total of 111 reflux episodes (90% acidic) were de-tected during sleep, but there were more episodes per hour during awake periods after sleep onset than during sleep (median 2.3 vs. 0.6, p=0.04). There were 279 total awakenings during the sleep study; 56 (20.1%) of them in 9 patients (69.2%) were preceded by reflux episodes (55 acid, 1 non-acid). In 5 patients (38.5%), awakenings were significantly associated with reflux.Conclusion: The data suggest that acid GER causes sleep interruptions in obese children who have symptoms of snoring or restless sleep and without evidence of OSA

Henoch-Schonlein Purpura in Children Hospitalized at a Tertiary Hospital during 2004-2015 in Korea: Epidemiology and Clinical Management

Purpose: To investigate the epidemiology, clinical manifestations, investigations and management, and prognosis of patients with Henoch-Schonlein purpura (HSP).Methods: We performed a retrospective review of 212 HSP patients under the age of 18 years who were admitted to Inje University Sanggye Paik Hospital between 2004 and 2015.Results: The mean age of the HSP patients was 6.93 years, and the ratio of boys to girls was 1.23:1. HSP occurred most frequently in the winter (33.0%) and least frequently in the summer (11.3%). Palpable purpura spots were found in 208 patients (98.1%), and gastrointestinal (GI) and joint symptoms were observed in 159 (75.0%) and 148 (69.8%) patients, respectively. There were 57 patients (26.9%) with renal involvement and 10 patients (4.7%) with nephrotic syndrome. The incidence of renal involvement and nephrotic syndrome was significantly higher in patients with se-vere GI symptoms and in those over 7 years old. The majority of patients (88.7%) were treated with steroids. There was no significant difference in the incidence of renal involvement or nephrotic syndrome among patients receiving different doses of steroids. Conclusion: In this study, the epidemiologic features of HSP in children were similar to those described in previous studies, but GI and joint symptoms manifested more frequently. It is essential to carefully monitor renal involvement and progression to chronic renal disease in patients ≥7 years old and in patients affected by severe GI symptoms. It can be assumed that there is no direct association between early doses of steroids and prognosis.Purpose: To investigate the epidemiology, clinical manifestations, investigations and management, and prognosis of patients with Henoch-Schonlein purpura (HSP).Methods: We performed a retrospective review of 212 HSP patients under the age of 18 years who were admitted to Inje University Sanggye Paik Hospital between 2004 and 2015.Results: The mean age of the HSP patients was 6.93 years, and the ratio of boys to girls was 1.23:1. HSP occurred most frequently in the winter (33.0%) and least frequently in the summer (11.3%). Palpable purpura spots were found in 208 patients (98.1%), and gastrointestinal (GI) and joint symptoms were observed in 159 (75.0%) and 148 (69.8%) patients, respectively. There were 57 patients (26.9%) with renal involvement and 10 patients (4.7%) with nephrotic syndrome. The incidence of renal involvement and nephrotic syndrome was significantly higher in patients with se-vere GI symptoms and in those over 7 years old. The majority of patients (88.7%) were treated with steroids. There was no significant difference in the incidence of renal involvement or nephrotic syndrome among patients receiving different doses of steroids. Conclusion: In this study, the epidemiologic features of HSP in children were similar to those described in previous studies, but GI and joint symptoms manifested more frequently. It is essential to carefully monitor renal involvement and progression to chronic renal disease in patients ≥7 years old and in patients affected by severe GI symptoms. It can be assumed that there is no direct association between early doses of steroids and prognosis