Chronic Hepatitis B In Children: Case Series From A Tertiary Paediatric Hospital.

BACKGROUND: Chronic hepatitis B (CHB) remains an important global public health problem. Seroconversion is highly correlated with favourable long-term outcome. There is no consensus on the treatment method, onset time and duration for paediatric CHB patients. In this study, we aimed to evaluate the course of children with CHB, to determine the characteristics of the patients who developed spontaneous seroconversion and treatment indications, and to compare the effectiveness of different treatment modalities. PATIENTS AND METHODS: Patients aged 1-18 years with a diagnosis of CHB were included in this study and evaluated for the development of spontaneous hepatitis B envelope antigen (HBeAg)/surface antigen (HBsAg) seroconversion and treatment modalities. The treated patients were divided into two groups according to their treatment regimen. RESULTS: Of the 114 patients, the median age at diagnosis was 8.4 years and median follow-up period was 5.2 years. Spontaneous HBeAg and HBsAg seroconversion developed in 18 (20.6%) of 87 HBeAg positive patients and two (1.8%) patients, respectively. Thirty-one patients were treated. The follow-up period was higher in the group with HBeAg seroconversion (p:0.005). There was no statistical difference between the patients in terms of seroconversion development and treatment status. The serum alanine aminotransferase (ALT) values at the time of diagnosis were statistically higher in treated patients. CONCLUSION: HBV infection and CHB continue to be an important problem for children in our country. Consensus on the appropriate ALT ULN is needed for the treatment of hepatitis in children.

Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.

BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) is an umbrella term including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. One of the disorders in PHTS spectrum, CS is characterized by macrocephaly, mucocutaneous findings, gastrointestinal system (GIS) polyposis and an increased lifetime risk of GIS, breast, thyroid and other cancers. CASE: In this study, we report an adolescent patient presenting with recurrent life-threatening upper GIS bleeding as a result of hamartomatous polyposis. Genetic studies revealed a known pathogenic nonsense mutation confirming the initial diagnosis of CS. CONCLUSIONS: Additionally, we describe our therapeutic intervention to improve the patient`s clinical symptoms with sirolimus, which its use is infrequently addressed in the literature for pediatric age group harboring PTEN mutations.

Congenital Rare Diseases Causing Persistent Diarrhea in the Newborn: A Single Center Experience.

Congenital diarrheal disorders (CDDs) are a heterogeneous group of inherited diseases that typically occur in the first weeks of life or can present later in life after the introduction of different nutrients; they can cause life-threatening severe dehydration and electrolyte disturbances. This study was conducted to characterize the causes of monogenic CDDs, and their clinical consequences. Clinical characteristics of 31 patients with CDDs that occurred in the first month of life and lasted more than 2 weeks were analyzed retrospectively. The patients were divided into groups according to the current CDD classification. The rate of consanguinity among parents was 77.4%. Of the patients, 16 (51.6%) were female and 15 (48.4%) were male. The underlying genetic defect was determined in 26 (83.9%) patients. The most common etiologic factors were digestive disorders of food and absorption and transport of electrolytes (58.1%, 18/31) (most of them being carbohydrate malabsorption disorders, 12/18) and intestinal immune system disorders (9.6%, 3/31). Total parenteral nutrition (TPN) was given to 45.2% (14/31) of the patients. Mortality rate was 28.5% (8/28). In conclusion, early diagnosis and treatment of CDDs with high morbidity and mortality is extremely important in terms of prognosis. Clinical and laboratory findings, stool characteristics, histopathological findings and the effects of dietary therapy are the primary and most important steps that lead to accurate diagnosis. In addition, advanced diagnostic possibilities, including genetic analyses, are essential for diagnosing underlying diseases.

Coats Plus syndrome: a diagnostic and therapeutic challenge in pediatric gastrointestinal hemorrhage.

BACKGROUND: Cerebroretinal microangiopathy with calcifications and cysts formerly known as Coats plus syndrome is a rare multisystemic autosomal recessive disease that affects the eyes, brain, bone, and gastrointestinal system. Intestinal telangiectasia are components of vascular malformations characterized by gastrointestinal system bleedings. Recurrent gastrointestinal system bleedings have been reported as being due to hepatic failure or vascular malformations of the gastrointestinal system tract. CASE: Here we report a patient who presented with recurrent gastrointestinal system bleeding episodes, bilateral exudative retinopathy, intracranial calcification and was diagnosed with Coats plus syndrome. Recurrent gastrointestinal system bleeding was controlled by monthly octreotide treatment. CONCLUSIONS: Coats plus syndrome presenting with vascular malformations should always be kept in mind in a patient with recurrent gastrointestinal bleeding and accompanying systemic physical findings. Octreotide treatment is an important option for patients with life threatening gastrointestinal system bleeding. Long term use of octreotide treatment can be used successfully in selected pediatric cases.

OCT Evaluation of Retinal Parameters in Pediatric Gastritis Patients with Helicobacter Pylori.

OBJECTIVES: The aim of this study was to investigate the effect of Helicobacter pylori (H. pylori) infection on choroidal thickness (CT), retinal nerve fiber layer (RNFL) thickness, and ganglion cell (GCL+IPL) complex thickness in childhood cases of gastritis. METHODS: A total of 104 eyes of 52 children were included in the study. Two groups were created: 54 eyes of 27 H. pylori gastritis cases (Group 1) and 50 eyes of 25 gastritis without H. pylori cases (Group 2), as confirmed by an endoscopic biopsy. The mean subfoveal, submacular, and peripapillary CT, RNFL thickness, and GCL+IPL complex thickness was measured using spectral domain optical coherence tomography. RESULTS: The mean subfoveal CT values were significantly higher in Group 1 compared with Group 2 (p=0.042). The mean submacular CT and peripapillary CT measurements of the eyes in Group 1 was greater than that of Group 2, but the difference was not statistically significant (p>0.05). There was also no statistically significant difference between the GCL+IPL complex or RNFL thickness values of the groups (p>0.05). CONCLUSION: H. pylori is a common gastrointestinal infectious agent with asymptomatic carriers in the population. The role of this agent in ocular pathologies in adult patients has been the subject of many recent studies, but secondary ocular findings in patients with H. pylori gastritis in childhood have not yet been investigated. The results of this study showed that the subfoveal CT value was significantly greater in children with H. pylori gastritis.

Fecal calprotectin levels in Helicobacter pylori gastritis in children.

BACKGROUND: Fecal calprotectin is an important inflammatory marker in intestinal diseases and is not routinely used in the upper gastrointestinal system disorders. The aim of this study was to show whether there is a relationship between fecal calprotectin levels and Helicobacter pylori (H pylori) gastritis in children and to determine the association of fecal calprotectin levels with gastric biopsy results in terms of chronic inflammation and neutrophil activity. METHODS: Patients with the complaints of the upper gastrointestinal system (epigastric pain, heartburn, nausea and vomiting) who were planned to undergo endoscopy were enrolled prospectively. The presence of H pylori was defined according to the gastric antrum biopsy results. Fecal calprotectin level was tested in the stool sample of the patients. The fecal calprotectin levels, upper gastrointestinal endoscopy and gastric biopsy results of 89 patients were evaluated. RESULTS: H pylori was found to be positive in the gastric biopsies of 51 (57.3%) patients. In the H pylori positive group mean fecal calprotectin level was 74.8 ± 67 µg/g, and in the H pylori negative group mean fecal calprotectin level was 52.7 ± 46 µg/g and the difference was significant (p= 0.039). We also found a significant relationship between fecal calprotectin levels and gastric neutrophil activity grades (p= 0.034). CONCLUSIONS: Mean fecal calprotectin levels were found to be higher in H pylori positive subjects in our study. Fecal calprotectin levels were correlated with gastric neutrophil activity grades. Fecal calprotectin represents gastric neutrophilic inflammation. When interpreting a high fecal calprotectin level, H pylori infection should be kept in mind.

Assessment of corneal and lens clarity in children with Wilson disease.

PURPOSE: To investigate the effect of copper accumulation on corneal and lens clarity in children with Wilson disease (WD) compared to healthy children. METHODS: This multicenter cross-sectional study included 24 subjects with WD and 25 age-matched controls. Clinical and laboratory characteristics of the WD subjects were recorded. The Pentacam HR imaging system was used both for lens densitometry and corneal densitometry. RESULTS: Corneal densitometry values were higher in the posterior 6-10 mm (P = 0.021), posterior 10-12 mm (P < 0.001), posterior total diameter (P = 0.037), total thickness 10-12 mm (P = 0.032), and total thickness 6-10 mm zones and layers (P = 0.040) in the WD eyes than in control eyes. The lens densitometry values of zone 1 were higher in WD eyes (P < 0.001). There was a significant relationship between corneal densitometry values in the posterior 10-12 mm zones (P = 0.012; r = 0.527) and the duration of WD and liver copper content (P = 0.016; r = 0.507). A statistically significant correlation was also detected between lens densitometry values in zone 1 and WD duration (P = 0.018; r = 0.426). CONCLUSION: In this study cohort, children with WD had decreased corneal and lens clarity even in cases without Kayser-Fleischer rings and sunflower cataracts. Densitometry measurements using Scheimpflug imaging provided detection of corneal and lens involvement in the early stages of WD.

Antral gastritis caused by Helicobacter pylori infection in the pediatric age group is associated with increased mesenteric lymph node dimension observed by ultrasonography.

BACKGROUND: To find out if transabdominal ultrasonography (US) may have a predictive role for detection of antral gastritis and Helicobacter pylori (HP) infection in the antrum of pediatric age group. METHODS: A total of 91 (63.6%) patients and 52 (36.4%) controls were allocated into two groups as follows: Group 1 (n=91): patients with complaints and endoscopic findings consistent with gastritis and documented HP infection; Group 2 (n=52): patients with complaints and endoscopic findings consistent with gastritis in the absence of documented HP infection. These two groups were compared in terms of demographics and biggest mesenteric lymph node detected, muscularis mucosa thickness, submucosal thickness, muscularis propria thickness, and total gastric wall thickness. RESULTS: The two groups exhibited no statistically significant difference with respect to age (P=0.747), and presenting symptoms (P=0.982). However, the mesenteric lymph node dimension was significantly increased in Group 1 (P=0.039). Median mesenteric lymph node dimension was 12.9 (±15.4) mm in Group 1, while 11.0 (±12.8) mm in Group 2. No significant difference was observed between groups in terms of muscularis mucosa thickness (P=0.243), submucosal thickness (P=0.174), muscularis propria thickness (P=0.356), and total gastric wall thickness (P=0.223). CONCLUSIONS: Antral gastritis caused by HP infection in the pediatric age group is associated with increased mesenteric lymph node dimension observed by US.

Is it necessary to re-evaluate diagnostic criteria for Wilson disease in children?

BACKGROUND/AIMS: The differential diagnosis of Wilson Disease (WD) is challenging, especially in children, because liver copper levels may also increase in other chronic liver diseases with bile stasis. The aim of this study is to determine urine and liver copper cut-off values to differentiate WD from other chronic liver diseases (non-WD, NWD) in children. MATERIALS AND METHODS: Seventy-six patients participated in the study, 35 with WD and 41 with NWD. The two groups were divided into two subgroups according to the presence of cholestasis. At the time of diagnosis, age, sex, biochemical test results, serum ceruloplasmin, baseline 24-h urinary copper levels, liver biopsy histological findings, liver copper levels, and Child-Pugh scores were obtained from medical records. Copper content in liver tissue and copper levels in urine were measured by atomic absorption spectrometry. Cut-off values for differentiation of WD from NWD were determined by receiver operating characteristic (ROC) analysis. RESULTS: A liver copper cut-off value of 98 µg/g indicated WD with 91% sensitivity and 65.4% specificity (area under the curve =0.838, 95% CI: 0.749-0.927). A 24-h urinary copper cut-off value of 67.5 µg/24h indicated WD with 85% sensitivity and 71% specificity (area under the curve =0.843, 95% CI: 0.752-0.934). CONCLUSION: In this study of pediatric chronic liver disease patients, copper cut-off values for distinguishing WD differed substantially from those used for diagnosis. A larger scale study is warranted to re-evaluate liver copper and 24-h urinary copper cut-offs for children with suspected WD.