Assessment of cows milk-related symptom scoring awareness tool in young Turkish children.

BACKGROUND: The diagnosis of cows milk protein allergy (CMPA) is not always easy. Cow's Milk-related Symptom Score (CoMiSS) has been developed to raise the awareness of CMPA among the primary health-care providers. In this study, we aimed to evaluate the validity of CoMiSS as a diagnostic approach of CMPA in infants in our country. METHODS: Infants with a CoMiSS of more than 12 points were included. An elimination diet was implemented in these infants for 4 weeks, and CoMiSS was reapplied. Infants with a reduction of ≥3 points in CoMiSS were considered responsive to the elimination diet, and an open oral challenge test was performed. Infants with symptom recurrence were diagnosed with CMPA. RESULTS: The study included 168 infants. When they were included in the study, the first CoMiSS score was 13.6 ± 1.9. After the elimination diet, the number of responsive infants was 154 (91.7%). Of the infants, 91 (54.2%) were diagnosed with CMPA with positive challenge. The majority of the patients diagnosed with CMPA presented with gastrointestinal and/or dermatological symptoms (80.3%). Positive family history of allergy was more prevalent in CMPA(+) infants (P < 0.001). The mean atopic dermatitis score was higher in CMPA(+) infants (P = 0.001). Eosinophilia and cows milk-specific IgE (CM-sIgE) positivity were more prevalent in infants with CMPA (P = 0.01 and P < 0.001, respectively). CONCLUSIONS: CoMiSS is a valuable tool to evaluate CMPA in primary care. The presence of multiple symptoms, especially skin involvement, helps to recognise infants with CMPA. Family history and eosinophilia also support the diagnosis of CMPA.

The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease.

OBJECTIVES: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study. METHODS: Patients (aged 3 months-18 years) who had unexplained transaminase elevation, unexplained hepatomegaly or hepatosplenomegaly, obesity-unrelated liver steatosis, biopsy-proven cryptogenic fibrosis and cirrhosis, or liver transplantation for cryptogenic cirrhosis were enrolled. A Web-based electronic data collection system was used. LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D (<0.02), intermediate (0.02-0.37) or normal (> 0.37). A second dried blood spot sample was obtained from patients with intermediate LAL activity for confirmation of the result. RESULTS: A total of 810 children (median age 5.6 years) from 795 families were enrolled. The reasons for enrollment were unexplained transaminase elevation (62%), unexplained organomegaly (45%), obesity-unrelated liver steatosis (26%), cryptogenic fibrosis and cirrhosis (6%), and liver transplantation for cryptogenic cirrhosis (<1%). LAL activity was normal in 634 (78%) and intermediate in 174 (21%) patients. LAL-D was identified in 2 siblings aged 15 and 6 years born to unrelated parents. Dyslipidemia, liver steatosis, and mild increase in aminotransferases were common features in these patients. Moreover, the 15-year-old patient showed growth failure and microvesicular steatosis, portal inflammation, and bridging fibrosis in the liver biopsy. Based on 795 families, 2 siblings in the same family were identified as LAL-D cases, making the prevalence of LAL-D in this study population, 0.1% (0.125%-0.606%). In the repeated measurement (76/174), LAL activity remained at the intermediate level in 38 patients. CONCLUSIONS: Overall, the frequency of LAL-D patients in this study (0.1%) suggests that LAL-D seems to be rare even in the selected high-risk population.

Allogeneic hematopoietic stem cell and liver transplantation in a young girl with dedicator of cytokinesis 8 protein deficiency.

DOCK8 deficiency is a rare inherited combined immunodeficiency, caused by mutations in the DOCK8 gene. We describe a case with DOCK8 deficiency associated with severe CLD in whom orthotopic LT was performed successfully after allogeneic HSCT. A 5 year-old girl with DOCK8 deficiency presented with mild direct hyperbilirubinemia and abnormal GGT level and without a previous history of jaundice. She had severe growth retardation, hepatosplenomegaly and generalized eczema. Progressive worsening of CLD was observed within 4 months. Investigations for etiology of liver disease were negative. Liver biopsy showed bridging necrosis, cholestasis and, cirrhosis. Recurrent immune hemolytic crisis and several viral infections developed in follow-up. She underwent whole cadaveric LT for end-stage liver disease (ESLD) 1 year after allogenic HSCT from a full matched related donor. The postoperative course was uneventful. The patient is alive with normal liver function and moderate skin graft versus host disease for 36 months after LT. In conclusion DOCK8 deficiency can be associated with severe CLD. Successful LT following HSCT is possible in patients with ESLD in DOCK8 deficiency. The timing of LT is challenging in patients requiring both HSCT and LT since conditioning regimens for HSCT can be highly hepatotoxic and the patients with suboptimal liver function can become decompensated during HSCT.

Assessment of Autonomic Nervous System in Children with Celiac Disease: A Heart Rate Variability Study.

OBJECTIVE: We evaluated the activity of autonomic nervous system in children with celiac disease by using heart rate variability (HRV) analysis. METHODS: HRV parameters of 37 children with celiac disease were compared to 36 age- and sex-matched healthy controls. None of the participants had a systemic, central or peripheral neurological disease. RESULTS: Statistically significant differences were present in two parameters; standard deviation of all RR intervals (SDNN) and standard deviation of 5-minute RR interval means (SDANN). Age was negatively correlated with mean, minimum and maximum heart rate. Duration of disease was positively correlated with low frequency power-high frequency power ratio. No correlation was found between anti-tissue transglutaminase IgA level and HRV parameters. CONCLUSIONS: Celiac disease may affect autonomic nervous function in children even if there are no symptoms of dysautonomia.

Gastrointestinal symptoms in pediatric patients with type 1 diabetes mellitus.

Background Various gastrointestinal (GI) symptoms are associated with diabetes. Common GI complaints associated with the manifestation of the disease include abdominal pain, diarrhea, nausea, bloating and vomiting. There have been very few studies examining GI problems of pediatric patients with type 1 diabetes mellitus (T1DM). The aims of this study were to find out the prevalence of GI symptoms in pediatric patients with T1DM and to determine the correlation among such symptoms, duration of diabetes and glycemic control. Methods One hundred and thirty-seven (median age 13.2 years, female 45.3%) patients with T1DM were examined. Demographic features, GI symptoms, signs and physical examination findings of the patients were recorded by pediatric gastroenterology specialists for the differential diagnosis and exclusion of other etiologies. Complete blood count, blood glucose, lipid profile, electrolytes, amylase, lipase, celiac antibodies and glycated hemoglobin (HbA1c) levels were evaluated and stool examination was performed. Endoscopy was performed on the patients who had refractory GI complaints. Gastric emptying (GE) time was evaluated using GE scintigraphy. Results Overall, 74 (54%) patients had ≥1 GI complaints. Patients often reported gastroesophageal reflux (32.8%) and abdominal pain (18%). The most significant findings in terms of GI symptoms were determined when patients were classified according to the glycemic control status. Reflux and dyspeptic symptoms were significantly more common in poorly or very poorly controlled diabetic patients (p=0.003 and p=0.004, respectively). Conclusions Diabetes can affect the entire GI tract, and GI symptoms are common in pediatric patients. We recommend that T1DM patients be evaluated for GI symptoms.

Comparison of the clinical and laboratory characteristics of pertussis or viral lower respiratory tract infections.

INTRODUCTION: Whooping cough-like respiratory tract infections (WCLRTI) caused by factors other than the Bordetella pertussis are available. Clinical picture is difficult to differentiate between the B. pertussis and viral respiratory infections. METHODOLOGY: Eighty-five patients with the diagnosis of WCLRTI were divided into 3 groups. Group 1 involved patients with pertussis shown by nasopharyngeal aspirate culture (NAC) and/or PCR. Group 2 consisted of patients who B. pertussis was not detected by NAC however, clinicians still evaluated them as potential patients of pertussis. Group 3 involved patients with the diagnosis of WCLRTI and those with VRTI detected by antigen detection/PCR. RESULTS: Patients with pertussis had longer duration of the symptoms prior to admission. Paroxysmal cough, whooping, vomiting after coughing, cyanosis, apnea, seizures and abdominal hernias were more common in patients with pertussis. Fever, wheezing, tachypnea, retraction, fine crackles and rhonchi were more common in Group 3. Chest radiographs of patients in Group 3 revealed more bronchopneumonic infiltration, increased aeration, and atelectasis. CRP (C-reactive protein) and ESR (erythrocyte sedimentation rate) were significantly higher in Group 3. Of the patients 43.6% had no pertussis vaccination due to being < 2 months in age and 29.4% had 1 dose. CONCLUSIONS: Pertussis should be thought in differential diagnosis of children with complaints of episodes of paroxysmal cough, cough accompanied by gasping, vomiting after coughing; with leukocytosis, lymphocytosis and a normal chest X-ray. The majority of children with pertussis infection are those who have not had the opportunity for vaccination.

Diagnostic Workup and Micronutrient Deficiencies in Children With Failure to Thrive Without Underlying Diseases.

OBJECTIVES AND STUDY: Failure to thrive (FTT) is an interruption in the normal pattern of growth. We aimed to evaluate the clinical characteristics, underlying etiologies, diagnostic workup, and frequency of micronutrient deficiencies (MDs) in children with FTT. METHODS: This retrospective study was done with 729 children (319 male, mean age 6.8 ± 5.5 years) with FTT (weight for age <3rd percentile) who had visited the Pediatric Gastroenterology outpatient clinic between 2011 and 2016. Children who had previously known chronic diseases, inadequate intake, or inadequate absorption were excluded. Acute malnutrition was considered if weight-for-age z-scores were below -2 and height-for-age z-scores were above -2, and chronic malnutrition was defined if height-for-age z-scores were below -2. RESULTS: The malnutrition rate was 57.1% (acute: 37.8%, chronic: 19.3%). Of children, 98.7% had laboratory evaluation. We found that 1.1% of laboratory tests, 0.4% of imaging studies, 27% of endoscopic findings, and biopsy results led to a specific diagnosis, equating to a total of 1.3% of diagnostic workup leading to a diagnosis related to FTT. The causes of FTT were inadequate nutrition (61.4%), psychiatric and behavioral disorders (17.2%), endocrinologic disorders (9%), recurrent infections (6.4%), gastrointestinal diseases (1.9%), and cardiac disorders (0.1%). Vitamin A and D deficiencies were the most common MD. CONCLUSION: We showed that the most common cause of FTT is "purely nutrition" FFT because of inadequate caloric intake, and extensive diagnostic workup is rarely helpful to reveal the etiology. These results implicate the importance of clinical evaluation and anthropometry to evaluate a child with FTT.