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.

Endoscopic Ultrasonography in Pediatric Patients with Pancreatobiliary Disease: Single-Center Trial.

PURPOSE: The use of Endoscopic ultrasonography (EUS) in pediatric patients is not as common as in adults. The aim of this study is to evaluate the role of EUS in the diagnosis of pancreatobiliary disease in childhood. METHODS: Between December 2016 and January 2018, the findings of patients who underwent EUS were evaluated retrospectively. RESULTS: Of the 41 patients included in the study 25 were girls (61.0%), mean age was 12.2±4.2 years. EUS was performed for biliary colic in 21 (51.2%), for recurrent pancreatitis in 12 (29.2%), for cholecystitis/cholangitis in 5 (12.2%), and for acute pancreatitis in 3 (7.4%) patients. EUS had a significant clinical effect in the decision of treatment and follow-up of 6/21 biliary colic cases, in diagnosis and follow-up of 6/12 recurrent pancreatitis cases, in decision-making and monitoring of invasive procedures (ERCP/surgery) of 3/5 acute cholecystitis/cholangitis and 2/3 of acute pancreatitis cases as well as in follow-up of the other cases. The effectiveness of EUS in determining direct treatment and invasive intervention was 43.9%. None of the patients had complications related to the EUS procedure. CONCLUSION: Although current guidelines show that EUS can be used in pediatric patients, this is limited to a few published studies. In this study, it is shown that EUS is a safe method for the diagnosis, follow-up and treatment of common pancreatobiliary pathologies in childhood.

Fecal calprotectin in children with familial Mediterranean fever in the attack-free period.

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal inflammation. The aim of this study was to evaluate fecal calprotectin (FC) in children with FMF during the non-attack period. METHODS: A retrospective evaluation was made of the data of a total 66 patients diagnosed with FMF in an attack-free period and without amyloidosis or inflammatory bowel disease (IBD). FC level in the FMF patients was compared with that in the patients with IBD and healthy control subjects. RESULTS: The FMF patients consisted of 37 boys (56.1%) with a mean age of 10.1 ± 3.9 years. Mean FC was 192.5 µg/g (range, 19.5-800 µg/g) in the FMF group, 597.9 µg/g (range, 180-800 µg/g) in the IBD group, and 43.8 µg/g (range, 19.5-144 µg/g) in the control group. The FC level in the children with FMF was higher than in the control group (P < 0.001), and the FC level of the IBD patients was higher than both the FMF and the control groups (P = 0.020, P < 0.001, respectively). CONCLUSIONS: FC was higher in FMF patients compared with healthy children even in the absence of IBD/amyloidosis. Even though colonoscopy is the gold standard in identifying intestinal inflammation in FMF patients, FC, a non-invasive and inexpensive method, can be used for screening. The presence of subclinical intestinal inflammation was also quantitatively identified in children with FMF.

Different techniques for biliary diversion in progressive familial intrahepatic cholestasis.

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a cholestatic liver disease of childhood. Pruritus resulting from increased bile salts in serum might not respond to medical treatment, and internal or external biliary drainage methods have been described. In this study, we aimed to evaluate different internal drainage techniques in patients with PFIC. PATIENTS AND METHODS: Between 2009 and 2014, seven children (4 male, 3 female, 3months-5years old), (median 2years of age) with PFIC were evaluated. The patients were reviewed according to age, gender, complaints, surgical technique, laboratory findings and outcome. In each two patients, cholecystoileocolonic anastomosis, cholecystojejunocolonic anastomosis and cholecystocolostomy were performed. Cholecysto-appendico-colonic anastomosis was the technique used in one patient. RESULTS: Jaundice and excessive pruritus were the main complaints. One of the patients with cholecystoileocolonic anastomosis died of comorbid pathologies (cirrhosis, adhesive obstruction and severe sepsis). Temporary rectal bleeding was observed in all the patients postoperatively. Regardless of the surgical technique, pruritus was dramatically decreased in all the patients in the postoperative period. CONCLUSION: Regardless of the technique, internal biliary diversion methods are beneficial for the relief of pruritus in PFIC patients. Selection of the surgical method might vary depending on the surgeon's preference and the surgical anatomy of the gastrointestinal system of the patient.

Inflammatory bowel disease in Turkish children.

BACKGROUND: This study was undertaken to evaluate demographics, clinical manifestations, laboratory findings and outcomes of children with inflammatory bowel disease (IBD) in Turkey. METHODS: We analyzed the medical records of 127 children diagnosed with IBD (under 18 years old) between January 2004 and January 2012 in 8 pediatric gastroenterology centers. RESULTS: Of the 127 patients, 90 (70.9%) suffered from ulcerative colitis (UC), 29 (22.8%) from Crohn's disease (CD), and 8 (6.3%) from IBD unclassified. The mean age of the 127 patients was 11.6 ± 4.1 years, and 11.8% of the patients were below 5 years old. Of the patients, 49.6% were male, and males were more predominant in patients with CD than in those with UC (72.4% vs. 42.2%, P = 0.008; a male/female ratio of 2.62 in CD, P = 0.0016). Approximately one fifth of the patients had extra-intestinal manifestations and 13.3% of the patients had associated diseases. Extraintestinal manifestations and associated diseases were more common in early onset disease [P = 0.017, odds ratio (OR) = 4.02; P = 0.03, OR = 4.1]. Of the patients, 15% had normal laboratory parameters including anemia, high platelet count, hypoalbuminemia, hypoferritinemia, and high sedimentation rate. Area under receiver operation characteristics was used to predict pancolitis in patients with UC. The values of C-reactive protein, sedimentation rate and pediatric ulcerative colitis activity were 0.61 (P = 0.06), 0.66 (P = 0.01) and 0.76 (P = 0.0001), respectively. Four (4.4%) patients with UC underwent colectomy, and finally two (1.5%, 95% confidence interval: 0-3.7%) patients died from primary disease or complications. CONCLUSIONS: IBD is an increasing clinical entity in Turkey. Features of IBD are similar to those in other populations, but prospective multicenter studies are needed to analyze the true incidence of IBD in Turkish children.

Ascites and abdominal pseudocyst: two uncommon ventriculoperitoneal shunt complications in two cases.

Ascites and abdominal pseudocysts (APC) are two rare complications that can occur following placement of a ventriculoperitoneal (VP) shunt. Both complications are characterized by abnormal intraperitoneal cerebrospinal fluid (CSF) collections. Although various factors have been implicated, the exact pathogenesis of the two conditions remains elusive. This paper presents two cases of VP shunt placement resulting from hydrocephaly. The first patient presented with generalized ascites and the other with APC, both of whom were six years old. APC and ascites after VP shunt placement are rare and distinct conditions; therefore, they may require different management strategies.

Tuberculous peritonitis in children: report of nine patients and review of the literature.

AIM: To present our experience with tuberculous peritonitis treated in our hospital from 2002-2007. METHODS: We reviewed the medical records of 9 children with tuberculous peritonitis. RESULTS: Nine patients (5 boys, 4 girls) of mean age 14.2 years were diagnosed with peritoneal tuberculosis. All patients presented with abdominal distention. Abdominal pain was seen in 55.5% and fever in 44.4% of the patients. Four cases had coexisting pleural effusion and two had pulmonary tuberculosis with parenchymal consolidation. Ultrasonography found ascites with septation in 7 patients. Two patients had only ascites without septation. Ascitic fluid analysis of 8 patients yielded serum-ascite albumin gradients of less than 1.1 gr/dL. Laparoscopy and laparotomy showed that whitish tuberculi were the most common appearance. Adhesions were also seen in three cases. The diagnosis of peritoneal tuberculosis was confirmed histo-pathologically in 7 patients and microbiologically in two. Two patients had been diagnosed by ascitic fluid diagnostic features and a positive response to antituberculous treatment. All patients completed the antituberculous therapy without any complications. CONCLUSION: Tuberculous peritonitis has to be clinically suspected in all patients with slowly progressive abdominal distension, particularly when it is accompanied by fever and pain. Laparoscopy and peritoneal biopsy are still the most reliable, quick and safe methods for the diagnosis of tuberculous peritonitis.

The prevalence of coeliac disease as detected by screening in children with iron deficiency anaemia.

AIM: Iron deficiency anaemia is a frequent finding seen in coeliac disease, which can be diagnosed alone or with other findings. In this study, our aim was to determine the prevalence of coeliac disease in children with iron deficiency anaemia without significant gastrointestinal symptoms. METHODS: There were 135 children with iron deficiency anaemia in the patient group (group 1), and 223 healthy children without iron deficiency anaemia in the control group (group 2) in this study. Antiendomysial antibody (EMA) IgA test was given to both groups. Antiendomysial antibody-positive patients underwent small intestine biopsy. RESULTS: The mean age was 7.2+/-4.6 (2-16) y in the patient group (group 1) and 8.2+/-3.8 (2-16) y in the control group (group 2), and no significant difference between the two groups was detected. In terms of gender, there was a significant difference between groups 1 and 2 (M/F: 74/61 and 98/125, respectively) ( p<0.05). EMA was positive in six cases in group 1 (4.4%), and villous atrophy and/or inflammation in the lamina propria with increased intraepithelial lymphocytes was seen on small intestine biopsy in these patients. In the control group, EMA was negative in all children. In detailed histories of patients with coeliac disease diagnosis, recurrent iron deficiency anaemia/pica was found in four patients (66.7%) and occasionally foul-smelling or watery stool attacks were seen in four patients (66.7%). Three of these six patients (50%) had short stature. CONCLUSION: The prevalence of coeliac disease was high in patients with iron deficiency anaemia; therefore, gastrointestinal findings should be further examined for coeliac disease, and the possibility of coeliac disease should be investigated in patients with recurrent iron deficiency anaemia and short stature.