Evaluation of parameters associated with growth retardation in children with coeliac disease.

AIMS: Coeliac disease (CD) is an autoimmune disorder with a prevalence ≤2% that causes an immune reaction to gluten. Growth retardation (GR) generally accompanies CD due to gastrointestinal complications and should be treated as early as possible along with initiation of a gluten-free diet. The aim of this study was to determine the indicators of GR in patients with CD. METHODS: This single-centre retrospective study included paediatric outpatients with CD. All patients were diagnosed with CD via serological analysis and upper gastrointestinal endoscopy if necessary. Patient records were obtained from Adana City Training and Research Hospital. Patients that were diagnosed with GR accompanying CD were given oral nutritional supplements and followed-up every 3-6 months. Statistical relationships between demographics, and anthropometric measurements, duration of breastfeeding, gluten contact time, diet duration, presenting complaints and serological findings were evaluated. RESULTS: This study included 169 paediatric outpatients between ages 1 and 18. Longer symptom duration and shorter breastfeeding duration were significantly correlated with GR accompanying CD (P = 0.007 and P = 0.029, respectively). Vomiting was the only symptom that was correlated with the presence of GR (P = 0.010). Helicobacter pylori infection was not correlated with the presence of GR (P = 0.277). CONCLUSIONS: GR should be treated as early as possible to reduce the severity of CD and a 6 months sole breastfeeding followed by solid foods accompanied by breastfeeding for 2 years is crucial for preventing GR. Moreover, vomiting as a presenting complaint in patients with CD might be indicative of the presence of GR.

The Screening of Celiac Serology in Pediatric Patients Diagnosed with Type 1 Diabetes Mellitus.

BACKGROUND: This study aims to detect the rate of celiac antibody test positivity in pediatric patients diagnosed with type 1 diabetes mellitus (T1DM) and determine the characteristics of the patient groups diagnosed with and without celiac disease (CD). METHODS: This study was conducted retrospectively in Adana City Training and Research Hospital, Pediatric Endocrinology Outpatient Clinic with the patients diagnosed with T1DM between September 17, 2017, and January 1, 2022. The patients were examined by 3 different groups. Group 1: celiac patient group, group 2: serology false positive group, and group 3: serology negative group. RESULTS: The study included 418 patients, 228 (54.5%) males and 190 (45.5%) females. About 6% of the patients (25 patients) were in the celiac patient group, 12.6% (53 patients) in the serology false positive group, and 81.3% (340 patients) in the serology negative group. The age at diagnosis was 10 (7.2-12.9) years in the celiac patient group and 8.8 (6.2-12.00) years in the serology false positive group (P = .559). Among 53 patients in the serology false positive group, spontaneous normalization was observed in 66% (35 patients), and positivity was continued during the test follow-up period in 34% (18 patients). There was no significant difference in terms of sex (P = .101), and HbA1c values at diagnosis (P = .557). Tissue transglutaminase IgA titer was 20× Upper limit of normal (ULN) in the celiac patient group and 2.52× ULN in the serology false positive group. CONCLUSION: T1DM and CD are both autoimmune diseases concurrently seen together. CD antibody positivity may be observed at the first presentation of T1DM. While the majority of these antibodies become negative during the follow-up, we wanted to highlight the false positive antibody titers and emphasize that these patients should be followed by endocrinologists and gastroenterologists together.

The value of mid-upper arm circumference for malnutrition screening in pediatric celiac disease.

BACKGROUND: Malnutrition rates in pediatric celiac disease (CD) patients range from 20.2% to 67.3%. OBJECTIVES: To investigate the prevalence of malnutrition in pediatric CD patients in Turkey using different anthropometric measurements, including mid-upper arm circumference (MUAC). MATERIAL AND METHODS: This prospective study included 124 patients aged 1-18 years with a diagnosis of CD, admitted to the Pediatric Gastroenterology Outpatient Clinic of Adana City Training and Research Hospital, Turkey. The anthropometric measurements, including weight-for-age (WFA) Z-score, height-for-age (HFA) Z-score, body mass index (BMI)-for-age Z-score, MUAC [cm], and MUAC Z-score were calculated. RESULTS: The study analyzed 75 female (60.5%) and 49 male (39.5%) patients with a mean age of 9.83 ±4.1 years. While 44 patients (35.5%) had malnutrition according to their BMI Z-scores, 60 patients (48.4%) had malnutrition based on their MUAC Z-scores. The number of patients with stunting (HFA value below -2) was 24 (19.4%), and the WFA value was below -2 in 27 (21.8%) patients. Furthermore, the BMI Z-score failed to identify chronic malnutrition in 70.9% of patients. There was a positive linear correlation (r = 0.396) between the BMI value and the MUAC value (p < 0.001). However, the degree of agreement between the BMI Z-scores and MUAC Z-scores was weak (κ: 0.300). CONCLUSIONS: The MUAC Z-score successfully detected acute and chronic malnutrition and should be included in standard anthropometric measurements at follow-up nutritional assessments in CD patients.

Extraintestinal Manifestations in Children Diagnosed with Inflammatory Bowel Disease.

Objectives: We aimed to evaluate the frequency of extraintestinal manifestations (EIM) in children with inflammatory bowel disease (IBD) and the correlation of EIM with disease activity index, disease type and disease age. Methods: Records of patients who were under the 18 years of age and followed up with the diagnosis of IBD were included in the study. The demographic characteristics of the patients, the age of the patients, the sex of the patients, the type of disease and the age of the disease were recorded. When patients were enrolled in the study disease activity indexes were calculated by examining the physical examination and laboratory values of the patients in their last visits, by using the Pediatric Ulcerative Colitis Activity Index (PUCAI) in Ulcerative Colitis (UC) and the Pediatric Crohn's Disease Activity Index (PCDAI) in Crohn's Disease (CD). Results: It was conducted with a total of 44 patients, 40.9% (n=18) females and 59.1% (n=26) males diagnosed with IBD. The ages of the patients participating in the study ranged from 8 to 19 and the mean was found to be 14.64±3.19 years. According to the type of disease; 27.3% of the patients were CD and 72.7% were UC. When the disease activity is examined; 37.2% were in remission, 37.2% were mild, 16.3% moderate and 9.3% severe. The incidence of EIM in females is 77.8% and 65.4% in males. The incidence of EIM is 75% in CD and 68.8% in UC. Hepatobiliary involvement was detected in 41.5% (n=17) of the patients, joint involvement in 29.5% (n=13), osteopenia in bone in 16.3% (n=7), osteoporosis in 7% (n=3), ocular involvement (uveitis) in 2.3% (n=1) and skin involvement (erythema nodosum) in 2.3% (n=1). Conclusion: EIM are common in childhood IBD patients. It should be kept in mind that EIM are as common in UC as CD.

Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates.

Congenital sucrase-isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase-isomaltase gene. While the prevalence of CSID is high in the indigenous populations of Alaska and Greenland, it is imprecise and ambiguous in the Turkish pediatric population. In this cross-sectional case-control study, which is retrospective in nature, next-generation sequencing (NGS) results obtained from records of 94 pediatric patients with chronic nonspecific diarrhea were reviewed. Demographic characteristics, clinical symptoms and treatment responses of those diagnosed with CSID were evaluated. We identified one new, homozygous frame-shift mutation and 10 other heterozygous mutations. Two cases were from the same family and nine were from different families. While the median age at onset of symptoms was 6 months (0-12), median age at diagnosis was 60 months (18-192) with a median delay of 5 years and 5 months (10 months -15 years and 5 months) in diagnosis. Clinical symptoms included diarrhea (100%), abdominal pain (54.5%), vomiting after consuming sucrose (27.2%), diaper dermatitis (36.3%) and growth retardation (81%). Our clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey. In addition, the frequency of heterozygous mutation carriers was significantly higher than that of homozygous mutation carriers and those with a heterozygous mutations responded well to the treatment.

Accuracy Rate of Shear Wave Elastography in Detecting the Liver Fibrosis in Overweight and Obese Children with Hepatosteatosis.

OBJECTIVE: The aim of this study was to compare the accuracy rate of liver stiffness calculated by shear wave elastography with liver biopsy results in obese and overweight children. MATERIALS AND METHODS: Obese and overweight children between 3 and 18 years of age, who had hepatic steatosis and a healthy control group were included in this study. A blood sample was obtained for laboratory tests and shear wave elastography was performed for all subjects. Liver biopsies were performed only in patients with hepatosteatosis, providing permission for biopsy, and for whom the biopsy procedure was not contraindicated. RESULTS: A cohort of 142 children (78 overweight/obese and 64 healthy) was included in this study. Shear wave elastography values were significantly higher in the patient group as com- pared to the control group (34.0 vs. 8.2 kPa; P < .001). Obese children had higher elastog- raphy values compared to non-obese children (50.2 vs. 23.7 kPa, P < .001). No correlation was detected between fibrosis score and elastography values. Elastography increased with increasing weight (correlation coefficient: 0.334, P = .003) and body mass index (correlation coefficient: 0.364, P = .001). CONCLUSION: In obese and overweight patients, elastography values are higher than in healthy subjects as well as patients with liver fibrosis. Disease-specific cut-off, mean, and normal ref- erence range values should be defined with large-scale studies to improve interpretation of elastography values. Our results are contradictory in the determination of liver fibrosis with shear wave elastography in obese and overweight patients, thus further research with a larger patient population is recommended.

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.

Introduction: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia. Methods: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed. Results: Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001). Discussion: Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial Registration: Clinicaltrials.gov NCT04120168.

Growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula in infants with cow's milk protein allergy.

Objective: To evaluate growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula (eHCF) in infants with cow's milk protein allergy (CMPA). Methods: A total of 226 infants (mean ± SD age: 106.5 ± 39.5 days, 52.7% were girls) with CMPA who received eHCF comprising at least half of the daily dietary intake were included. Data on anthropometrics [weight for age (WFA), length for age (LFA) and weight for length (WFL) z-scores] were recorded at baseline (visit 1), while data on infant feeding and stool records, anthropometrics and Infant Feeding and Stool Patterns and Formula Satisfaction Questionnaires were recorded at visit 2 (on Days 15 ± 5) and visit 3 (on Days 30 ± 5). Results: From baseline to visit 2 and visit 3, WFA z-scores (from -0.60 ± 1.13 to -0.54 ± 1.09 at visit 2, and to -0.44 ± 1.05 at visit 3, p < 0.001) and WFL z-scores (from -0.80 ± 1.30 to -0.71 ± 1.22 at visit 2, and to -0.64 ± 1.13 at visit 3, p = 0.002) were significantly increased. At least half of infants never experienced irritability or feeding refusal (55.7%) and spit-up after feeding (50.2%). The majority of mothers were satisfied with the study formula (93.2%), and wished to continue using it (92.2%). Conclusions: In conclusion, eHCF was well-accepted and tolerated by an intended use population of infants ≤ 6 months of age with CMPA and enabled adequate volume consumption and improved growth indices within 30 days of utilization alongside a favorable gastrointestinal tolerance and a high level of parental satisfaction.

Factors Affecting Prognosis in the Course of Pediatric Celiac Disease.

Introduction Celiac disease (CD) is a rather frequent chronic autoimmune disease that causes impaired growth in children. The present study aims to evaluate patients' condition after diagnosis cross-sectionally and determine the factors affecting prognosis. Methods Control visits were performed at the end of the 13-month intervention period. The study was designed as a single-center retrospective study and included patients diagnosed with CD. The study cohort consisted of 211 patients aged 1 to 18 years. Statistical parameters include Helicobacter positivity, Marsh classification; economic status; and body mass index (BMI) z-score, weight z-score, and height z-score to observe the difference between admission and follow-up. Results Treatment adherence is one of the most critical factors influencing improvement in developmental parameters during control visits (p<0.033). It was observed that the weight z-scores at the control visit deteriorated significantly with a longer duration of complaints (p=0.033). Better improvement of control visit BMI z-scores among patients with complaints compared to asymptomatic patients (p=0.036) indicate the importance of early diagnosis in asymptomatic cases. Developmental parameters of patients with CD without growth retardation (GR) show faster improvement compared to patients with GR (p<0.001). Families with good socioeconomic status can easily adapt to the diet by reaching a greater variety of gluten-free products, so anthropometric measurements are observed to be significantly higher at the control visit (p<0.002). Conclusions Treatment adherence is the most critical factor for improvement in CD treatment, as in all treatments. In addition, the investigation of suspected, additional disease symptoms during the follow-up of a CD patient is also of great importance for early diagnosis. The importance of early diagnosis has been emphasized in terms of anthropometric improvement in asymptomatic CD cases.