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.

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.

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.