A simple machine learning approach for preoperative diagnosis of esophageal burns after caustic substance ingestion in children.

PURPOSE: The unresolved debate about the management of corrosive ingestion is a major problem both for the patients and healthcare systems. This study aims to demonstrate the presence and the severity of the esophageal burn after caustic substance ingestion can be predicted with complete blood count parameters. METHODS: A multicenter, national, retrospective cohort study was performed on all caustic substance cases between 2000 and 2018. The classification learner toolbox of MATLAB version R2021a was used for the classification problem. Machine learning algorithms were used to forecast caustic burn. RESULTS: Among 1839 patients, 142 patients (7.7%) had burns. The type of the caustic and the PDW (platelet distribution width) values were the most important predictors. In the acid group, the AUC (area under curve) value was 84% while it was 70% in the alkaline group. The external validation had 85.17% accuracy in the acidic group and 91.66% in the alkaline group. CONCLUSIONS: Artificial intelligence systems have a high potential to be used in the prediction of caustic burns in pediatric age groups.

Coats plus syndrome: a rare cause of severe gastrointestinal tract bleeding in children - a case report.

BACKGROUND: Coats plus syndrome, cerebroretinal microangiopathy with calcifications and cysts, is a rare disease with autosomal recessive pattern occurring due to a mutation in CTC1, encoding conserved telomere maintenance component 1, gene. Besides retinal involvement, abnormalities in brain and osteopenia, serious life-threatening bleeding in gastrointestinal tract and portal hypertension can be observed. CASE PRESENTATION: A 6-year-old girl with Coats plus syndrome presented to the pediatric emergency department with vomiting blood and blood in stool. An upper and lower gastrointestinal endoscopy revealed esophageal varices and vascular telangiectasia in the pyloric antrum, duodenum, and colon. She received palliative care and the bleeding was stopped after receiving intravenous octreotide. She then was followed in the pediatric gastroenterology, neurology, and ophthalmology clinics. She was later hospitalized and admitted to the intensive care unit as she continued to have intermittent gastrointestinal system bleeding. She eventually died due to severe gastrointestinal system bleeding. CONCLUSIONS: Coats plus syndrome can lead to life-threatening gastrointestinal bleeding and portal hypertension. As Coats plus syndrome is quite rare, there is little published data on this syndrome. This report presents a case of Coats plus syndrome as a rare cause of gastrointestinal bleeding and portal hypertension.

Nutritional characteristic of children with inflammatory bowel disease in the nationwide inflammatory bowel disease registry from the Mediterranean region.

BACKGROUND/OBJECTIVES: We analyzed the nationwide pediatric inflammatory bowel disease (PIBD) registry (1998-2016), to evaluate the nutritional status at the time of diagnosis. SUBJECTS/METHODS: Nine types of nutritional status by the combination of weight-for-length (<2 years)/body mass index (>2 years) and length/height-for-age with three categories (<-2, -2 to 2, and >2 SD) were described. Malnutrition was defined by WHO criteria. Univariate and multivariate regression analysis was used to identify risk factors for malnutrition. RESULTS: In total, 824 IBD patients (498 Ulcerative colitis (UC); 289 Crohn's Disease (CD); 37 Indeterminate Colitis (IC); 412 male; the median age 12.5 years) were eligible. The prevalence of eutrophy, wasting/thinness, stunting, overweight, tall stature, concurrent wasting/thinness and stunting, tall stature with overweight, tall stature with wasting/thinness, and short stature with overweight were 67.4%, 14.9%, 6.6%, 3.1%, 3.2%, 3.3%, 1.1%, 0.4%, and 0.1%, respectively. The prevalence of malnutrition was 32.7%, indicating a higher prevalence in CD (p < 0.001). Incidence of overweight was less common in the CD than UC and IC (p < 0.001). Multivariate analysis revealed that age of onset (>10 years), prepubertal stage, severe disease activity, perianal involvement, and high C reactive protein level were independently associated with malnutrition in pediatric IBD. CONCLUSION: We showed the frequency of nutritional impairment in PIBD. The percentage of overweight subjects was lower than the other studies. The age of onset, disease activity, CRP level, perianal involvement, and pubertal stage were associated with a higher risk for developing malnutrition. Our results also confirmed that CD patients are particularly vulnerable to nutritional impairment. CLINICAL TRIAL NUMBER: ClinicalTrials.gov Identifier: NCT04457518.

Association of celiac disease with eosophageal eosinophilia and eosinophilic eosophagitis.

BACKGROUND: Aim of the study was to evaluate the association between celiac disease and eosinophilic oesophagitis/oesophageal eosinophilia in children. METHODS: A total of 278 patients with celiac disease (mean age: 7.12 ± 4.64 years, M/F: 0.77) were involved in the study. The patients were evaluated retrospectively in terms of clinical, endoscopic and histopathological findings. The association between celiac disease and eosinophilic oesophagitis/oesophageal eosinophilia was determined. RESULTS: According to Marsh classification system 6 (2.1%) of the patients were graded type 3A, 10 (3.5%) were type 3B, 262 (94.4%) were type 3C. The histopathological examination of oesophageal biopsy specimens of the patients revealed <15 eosinophils per high power field in only 4 (1.4%) patients. Two of these patients were positive for HLA DQ8, one was DQ2, and the other one was both DQ8 and DQ2. Tissue transglutaminase IgA level was above 300 U/mL in these patients. None of them had elevated serum total IgE levels, peripheral eosinophilia and history of atopic diseases. The gastrointestinal symptoms resolved and tissue transglutaminase IgA level of the patients were declined after 3 months of gluten-free diet. CONCLUSION: Although an association between celiac disease and eosinophilic oesophagitis/oesophageal eosinophilia have been postulated in recent years, no exact relationship was established in this study. This is the first study reporting the performance of follow-up GI endoscopy with biopsies revealing the resolution of oesophageal eosinophilia.

A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis.

Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. In this case, we describe a 34-day-old patient with postnatal progressive projectile vomiting, diagnosed with hypertrophic pyloric stenosis, who was suspected to have SLOS during treatment clinical and biochemical profile. A 34-day-old patient with progressively worsening vomiting and abdominal distention, diagnosed as hypertrophic pyloric stenosis, was operated by pediatric surgery department. After operation, the patient required pediatric intensive care unit admission due to respiratory distress, anemia, hypoalbuminemia, and generalized edema. Physical examination of our patient revealed dysmorphic facial features, finger anomalies, sacral dimple, and ambiguous genitalia, with chromosomal determination as XY. Molecular genetic testing was performed, and mutations in the DHCR7 gene of homozygous c.1342G>A/p.Glu448Lys (rs80338864) were detected. Infants with progressive projectile vomiting, feeding problems, and multiple anomalies with dysmorphic facial anomalies may be suspected to have SLOS and their families should be advised to have genetic testing and genetic counseling.

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study.

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.

Blind liver biopsy: a 17-year experience / Biopsia hepática a ciegas: experiencia de 17 años

ABSTRACT Objectives: Liver biopsy is the gold standard for assessing liver inflammation, necrosis and fibrosis. The aim of the study is to evaluate clinical indications and histopathological results of percutaneus liver biopsy. Materials and methods: A total of 516 children who underwent blind liver biopsy were evaluated retrospectively. Results: Blind liver biopsy was performed for chronic active hepatitis B in 50% of the cases (n=260), neonatal cholestasis in 14% (n=68), autoimmune hepatitis in 7.7% (n=40), Wilson disease in 7.3% (n=38), isolated elevation of the liver enzymes in 5% (n=26), chronic active hepatitis C in 4.2% (n=22), metabolic disease in 3.4% (n=17), malignancies in 2.2% (n=11) and the others in 3.4% (n=17). Major complications were observed in 0.19% of the cases (n=1) and minor complications such as pain at the biopsy site in 13.5% of the cases (n=70), hypotension and tachycardia in 1.9% (n=10). Conclusions: Blind liver biopsy is a safe method in diagnosing liver diseases in childhood.

RESUMEN Objetivos: La biopsia de hígado es el estándar de oro para evaluar la inflamación, necrosis y fibrosis del hígado. El objetivo del estudio es evaluar las indicaciones clínicas y los resultados histopatológicos de la biopsia hepática percutánea. Materiales y métodos: Se evaluó retrospectivamente a un total de 516 niños a los que se les realizó una biopsia hepática a ciegas. Resultados: Se realizó biopsia hepática a ciegas por hepatitis B crónica activa en el 50% de los casos (n = 260), colestasis neonatal en el 14% (n = 68), hepatitis autoinmune en el 7,7% (n = 40), enfermedad de Wilson en el 7,3%. % (n = 38), elevación aislada de las enzimas hepáticas en el 5% (n = 26), hepatitis C crónica activa en el 4,2% (n = 22), enfermedad metabólica en el 3,4% (n = 17), neoplasias en el 2,2% (n = 11) y los demás en un 3,4% (n = 17). Se observaron complicaciones mayores en el 0,19% de los casos (n = 1) y complicaciones menores como dolor en el sitio de la biopsia en el 13,5% de los casos (n = 70), hipotensión y taquicardia en el 1,9% (n = 10). Conclusiones: La biopsia hepática a ciegas es un método seguro en el diagnóstico de enfermedades hepáticas en la infancia.

Blind liver biopsy: a 17-year experience.

OBJECTIVES: Liver biopsy is the gold standard for assessing liver inflammation, necrosis and fibrosis. The aim of the study is to evaluate clinical indications and histopathological results of percutaneus liver biopsy. MATERIALS AND METHODS: A total of 516 children who underwent blind liver biopsy were evaluated retrospectively. RESULTS: Blind liver biopsy was performed for chronic active hepatitis B in 50% of the cases (n=260), neonatal cholestasis in 14% (n=68), autoimmune hepatitis in 7.7% (n=40), Wilson disease in 7.3% (n=38), isolated elevation of the liver enzymes in 5% (n=26), chronic active hepatitis C in 4.2% (n=22), metabolic disease in 3.4% (n=17), malignancies in 2.2% (n=11) and the others in 3.4% (n=17). Major complications were observed in 0.19% of the cases (n=1) and minor complications such as pain at the biopsy site in 13.5% of the cases (n=70), hypotension and tachycardia in 1.9% (n=10). CONCLUSIONS: Blind liver biopsy is a safe method in diagnosing liver diseases in childhood.

A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome.

Johanson-Blizzard Syndrome (JBS) was first described by Johanson and Blizzard. It exhibits autosomal recessive inheritance and is characterized by mutation in the UBR1 gene on the long arm of Chromosome 15. The phenotypic features as well as diarrhoea that occurs due to the exocrine pancreatic insufficiency constitute the main clinical symptoms. This article discusses Johanson-Blizzard Syndrome due to the case followed-up by us with the symptoms of deafness and diarrhoea as well as typical facial appearance.

Filiform Polyposis in Ulcerative Colitis: A Rare Pediatric Case

Background: Filiform polyposis is a rare benign condition referred to as inflammatory polyposis, or pseudopolyposis that is usually found in association with Crohn's disease, ulcerative colitis or granulomatous colitis which is formed by non-specific mucosal and submucosal reactions to previous severe inflammation. It is characterized by multiple finger-like projections most commonly in the transverse and descending colon. Case Report: A 15-year-old girl with a history of ulcerative colitis was admitted to the pediatric emergency department with abdominal pain attacks for the past 2 weeks. Abdominal ultrasound and magnetic resonance enterography revealed mucosal thickening in the transverse and descending colon. Colonoscopy revealed small filiform polyps throughout the colon. Histopathological examination revealed inflammatory polyps associated with ulcerative colitis. Conclusion: Non-neoplastic filiform polyps can be detected even in children with ulcerative colitis with long-term remissions.

The investigation of Helicobacter pylori in the dental biofilm and saliva samples of children with dyspeptic complaints.

BACKGROUND: The oral cavity can be an extra-gastric reservoir for Helicobacter pylori (H.pylori). This can play a role in the pathogenesis of halitosis, glossitis, recurrent aphthous stomatitis, and dental caries. The present study was conducted to detect the presence of H.pylori within the dental biofilm and in saliva samples collected from children suffering from dyspepsia and children without any gastrointestinal complaints. Associations with gastric infection, halitosis, and some oral parameters were also evaluated. METHODS: Seventy children (aged between 5-16) with dyspepsia were selected for the study group and control group composed of 30 healthy children without dyspepsia were also included in the study. After detailed oral and clinical examinations for oral parameters, saliva, and supragingival dental biofilm samples were collected for 16S rRNA and 23S rRNA genes detection by real-time polymerase chain reaction (RT-PCR). The presence of gastric H.pylori was evaluated in endoscopic biopsy specimens histopathologically. Halitosis was evaluated by benzoyl-DL-arginine-naphthylamid (BANA) test. Salivary S.mutans and Lactobacilli sp. counts were also carried out by commercial kits. RESULTS: H.pylori was histopathologically detected amongst 83% of the children with the dyspeptic condition. The detection rate of this bacteria in dental biofilm and saliva samples and halitosis were found relatively higher in the dyspeptic children rather than the control group (p < 0.01). Halitosis was not significantly different between dyspeptic children and those detected with H.pylori (p > 0.05). In the gastric H.pylori positive group with dyspepsia, DMFT/S and dmft/s numbers and plaque indices were found higher than the control group (p < 0.01). Only plaque indices of gastric H.pylori negative group with dyspepsia were found higher than the control group (p < 0.01). S.mutans and Lactobacilli sp. counts were not significantly different between gastric H.pylori positive and negative groups (p > 0.05). Comparing to those with negative for both genes, in children whose dental biofilm and saliva samples were positive for both 16S rRNA and 23S rRNA genes, significantly higher results for halitosis, and DMFS numbers and significantly lower results for dmfs numbers and pH values were found (p < 0.01). CONCLUSIONS: Helicobacter pylori can occur in the oral cavity aside and independently from the stomach. However, the high number of bacteria in the oral cavities of children with gastric H.pylori, an association between the presence of H.pylori and halitosis, DMFS, and pH were found.

Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.

Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cancer predisposition syndromes. A patient with CRC related to constitutional mismatch repair deficiency (CMMRD) syndrome with features of neurofibromatosis type 1 (NF-1) is presented here. A 13-year-old boy was admitted for a 4-month history of diarrhea and rectal bleeding. The patient had extensive café au lait spots, freckling, and Lisch nodules. He fulfilled the NF-1 diagnostic criteria. Colonoscopy showed numerous polyps and a colorectal mass lesion, of which a biopsy revealed adenocarcinoma, an uncommon pathology associated with NF-1. High microsatellite instability and homozygous mutation of PMS2 gene in tumor tissue and blood lymphocytes, respectively, confirmed the diagnosis of CMMRD. Unfortunately, because family history related to CMMRD was negative, the parents denied the diagnosis and refused the therapy, and the patient was lost to follow-up. CMMRD is a rare cancer predisposition syndrome with phenotypical features resembling NF-1. The disease may be suspected in the setting of NF-1 features and CRC, high-grade brain tumors, or hematologic malignancies. Lack of family history related to CMMRD may be a major obstacle to convincing parents of the presence of an inherited disease in their progeny.

Chronic hepatitis B in children with or without malignancies: a 13-year follow-up.

AIM: To evaluate the outcome of chronic hepatitis B (CHB) in children with or without malignancies. METHODS: Twenty four children (15 boys and 9 girls) with malignancies, followed up by the pediatric gastroenterology outpatient clinic for CHB between January 2000 and December 2013, were enrolled in the study (Group 1). Group 2 was formed with twenty five children (11 girls and 14 boys) diagnosed with CHB without malignancies. The data from the patients' records were compared between the two groups. RESULTS: Hepatitis B e antigen (HBeAg)/antiHBe seroconversion was observed in 3 patients (12.5%) in group 1 and 15 patients (60%) in group 2, with annual seroconversion rates of 1.61% and 16.6%, respectively, and the difference was significant (P<0.01). One patient (6.6%) in Group 1 and 9 patients (53%) in Group 2 showed HBeAg/antiHBe seroconversion after treatment and the difference between the two groups was significant (P<0.06) Loss of hepatitis B surface antigen was observed in one patient in each of group 1 and 2. No clinical, laboratory and imaging findings of liver disease were observed in any of the patients at the end of the study. CONCLUSION: HBeAg/antiHBe seroconversion rate was lower in patients who had recovered from cancer.

Sensorineural hearing loss in pediatric patients with celiac disease.

Sensorineural hearing loss (SNHL) as an extraintestinal manifestation of celiac disease (CD) has been reported in several studies. The aim of this study was to determine presence of subclinical sensorineural hearing loss associated with CD in pediatric patients. Otoscopy, tympanometry and pure tone audiometry were performed in 44 patients with CD and 20 healthy age and sex-matched controls. Pure tone audiometry did not show significant sensorineural hearing loss over all frequencies in patients with CD compared with controls (P > 0.05). SNHL was detected in only three (6.8 %) patients with CD. In conclusion, subclinical sensorineural hearing loss was demonstrated in adult patients with CD; therefore, we recommend to perform audiometric examinations in pediatric patients for recognizing hearing loss early during the course of the disease.

The association between Helicobacter pylori gastritis and lymphoid aggregates, lymphoid follicles and intestinal metaplasia in gastric mucosa of children.

AIMS: The aim of the study was to determine the topographic prevalence of lymphoid follicles, lymphoid aggregates, gastric glandular atrophy and intestinal metaplasia among children with chronic abdominal pain. The association between these lesions and age, type of gastritis and Helicobacter pylori density was also assessed. METHODS: A total of 358 patients (mean age: 10, 18 ± 3, 26 years; male : female ratio: 0.92) with chronic abdominal pain who had upper gastrointestinal endoscopy were included in the study. The endoscopic and histopathological findings were documented. The prevalence of lymphoid follicles, lymphoid aggregates, atrophy and intestinal metaplasia according to the type of gastritis and their relation with H. pylori density were determined. RESULTS: H. pylori was detected in 214 (59.8%) patients. H. pylori- positive patients were found to be significantly older than H. pylori-negative patients (P < 0.01). The endoscopy revealed that the most common finding observed was antral nodularity in H. pylori-positive patients and normal mucosal appearance in H. pylori-negative patients. Panmucosal gastritis both in the corpus and antrum and the prevalence of lymphoid follicles and lymphoid aggregates were more frequent in the H. pylori-positive group (P < 0.01). None of the patients had atrophy, whereas 11 patients had intestinal metaplasia. Although positive correlation was obtained between lymphoid lesions and H. pylori density, no significant relation was established between intestinal metaplasia, lymphoid lesions and H. pylori density. CONCLUSION: Lymphoid follicles and lymphoid aggregates in gastric mucosa involving both antrum and corpus significantly correlated with H. pylori infection, H. pylori density and type of gastritis in children.

High doses of methylprednisolone in the management of caustic esophageal burns.

OBJECTIVE: Caustic substance ingestion in childhood is a public health issue in developing countries, and several management protocols have been proposed to prevent the resulting esophageal strictures. The role of corticosteroids in preventing corrosive-induced strictures is controversial. Our aim was to study the influence of high doses of corticosteroids in preventing esophageal strictures. METHODS: Eighty-three children with a mean age of 4.10 6 2.63 years and with grade IIb esophageal burns (an esophagogastroscopy was performed within 24­48 hours of injury) due to corrosive substance ingestion were enrolled in our study between 2005 and 2008. Forty-two children (study group) received methylprednisolone (1 g/1.73 m2 per day for 3 days), ranitidine, ceftriaxone, and total parenteral nutrition. Forty-one children (control group) were administered the same regimen excluding methylprednisolone. Stricture development was compared between groups based on endoscopic and radiologic findings. RESULTS: During the endoscopic examination, stricture development was observed in 4 patients (10.8%) in the study group and in 12 patients (30%) in the control group. The difference was statistically significant (P = .038). The stricture development rate in the upper gastrointestinal system with barium meal was 14.3% and 45.0% in the study and control groups, respectively. The difference was statistically significant (P = .004). The duration of total parenteral nutrition was shorter in the study group compared with the control group (P = .001). High doses of methylprednisolone were well tolerated in the study group without any side effects. CONCLUSIONS: High doses of methylprednisolone used for the management of grade IIb esophageal burns may reduce stricture development.

Solitary rectal ulcer syndrome in children: a report of six cases.

Solitary rectal ulcer syndrome (SRUS) is a rare, benign disorder in children that usually presents with rectal bleeding, constipation, mucous discharge, prolonged straining, tenesmus, lower abdominal pain, and localized pain in the perineal area. The underlying etiology is not well understood, but it is secondary to ischemic changes and trauma in the rectum associated with paradoxical contraction of the pelvic floor and the external anal sphincter muscles; rectal prolapse has also been implicated in the pathogenesis. This syndrome is diagnosed based on clinical symptoms and endoscopic and histological findings, but SRUS often goes unrecognized or is easily confused with other diseases such as inflammatory bowel disease, amoebiasis, malignancy, and other causes of rectal bleeding such as a juvenile polyps. SRUS should be suspected in patients experiencing rectal discharge of blood and mucus in addition to previous disorders of evacuation. We herein report six pediatric cases with SRUS.

Immunogenecity of hepatitis A and B vaccination in pediatric patients with inflammatory bowel disease.

OBJECTIVES: Aim of the study was to evaluate the response to hepatitis A and B vaccination in pediatric patients with inflammatory bowel disease (IBD). METHODS: A total of 47 patients with IBD (25 ulcerative colitis, 14 Crohn's disease, and 8 indeterminate colitis) ages 3 to 17 years were compared with 50 healthy age- and sex-matched controls. Screening for hepatitis A and B serology was carried out before vaccination. Susceptible cases received 20 mg of recombinant DNA vaccine for hepatitis B (0, 1, and 6 months)and 720 milliELISA units of inactivated hepatitis A virus vaccine (HAV) (0 and 6 months). Postvaccination serologic evaluation was performed 1 month after the last dose of primary vaccination, 1 month after the booster dose, and once every year during follow-up. RESULTS: A total of 23 patients and 35 controls received HAV and protective anti-HAV antibodies were developed in all of the patients and controls (P =1.00). Forty-seven patients and 50 controls received hepatitis B vaccine and 70.2% of the patients versus 90% of the controls achieved seroprotection(anti-HBs titers 10 mIU/mL) 1 month after primary vaccination (95% confidence interval 0.71­0.87, P = 0.02). The overall seroprotection rates were 96% in controls and 85.1% in patients after the whole hepatitis B vaccination series (95% confidence interval 0.83­0.95, P = 0.08). No significant reduction was observed in antibody response among patients and controls during the follow-up period. CONCLUSIONS: The rate of seroconversion to the hepatitis B vaccine was lower in pediatric patients with IBD than in healthy controls and hepatitis A vaccine was highly immunogenic among patients with IBD.

Serum gastrin levels and gastroduodenal lesions in children with chronic renal failure on continuous ambulatory peritoneal dialysis: a single-center experience.

OBJECTIVE: The aim of this study was to determine serum gastrin levels and gastroduodenal lesions in children with chronic renal failure (CRF) on continuous ambulatory peritoneal dialysis (CAPD). METHODS: A total of 19 patients (mean age: 11.7±3.9 years, M/F: 1.37) with CRF on CAPD and 20 age-matched and sex-matched patients (mean age: 10.2±1.4 years, M/F: 1.5) with peptic ulcers were included in the study. Serum gastrin, creatinine, phosphate, and parathormone levels were determined. Upper gastrointestinal endoscopy was performed in all patients. RESULTS: The basal gastrin concentrations of CAPD patients were significantly higher than those of patients with peptic ulcer disease without CRF (124.2±59.1 and 53.0±9.4 pg/ml, respectively) (P<0.001). A significant correlation was found between age, duration of uremia, and serum gastrin levels (r=0.59, P<0.01; r=0.60, P<0.01, respectively). No correlation was found between the duration of CAPD and serum gastrin levels in the patient group. Of the patients, 73.6% had abnormal upper gastrointestinal endoscopic findings. The gastroduodenal lesion observed was hemorrhagic gastritis (31.5%), followed by hemorrhagic gastroduodenitis (26.3%), gastric nodular gastritis (10.5%), and polyps (10.5%). CONCLUSION: On the basis of our findings, such as higher serum gastrin levels in patients with CRF than those of the control group and the frequent endoscopic findings of gastroduodenal lesions in most of the patients, we recommend that an endoscopic examination should be considered for all the children with CRF on CAPD awaiting renal transplantation even if they are asymptomatic.

A case report of malignant infantile osteopetrosis.

BACKGROUND: Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within the first decade of life because of secondary infections. Stem cell transplantation (SCT) remains the only curative therapy. CASE PRESENTATION: We report a two-month old male infant, diagnosed as MIOP while investigating the cause of hepatosplenomegaly. The patient was referred for stem cell transplantation. CONCLUSION: Malignant infantile osteopetrosis should be kept in mind as a rare cause of hepatosplenomegaly and the patient should be referred for stem cell transplantation before neurologic or visual impairment develops.