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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.

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) and length/height-for-age with three categories (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., Society of Turkish Pediatric Gastroenterology, Hepatology, and Nutrition, This research was funded by The Society of Turkish Pediatric Gastroenterology, Hepatology, and Nutrition.

Amaç:Çocukluk çağında kabızlık yaygın olup sıklıkla fonksiyoneldir. Çocuklardafonksiyonel kabızlık tedavisinde kullanılan ilaçlarla ilgili bilgilersınırlıdır. Amacımız fonksiyonel kabızlık (FK) veya fonksiyonel fekalinkontinans (FFİ) olan çocuklarda senna, trimebutin ve laktülozun etkinliğinideğerlendirmektir. Gereç ve Yöntemler:Roma III kriterlerine göre fonksiyonel kabızlık (FK) veya fonksiyonel fekalinkontinans (FFI) tanısı koyulan, laktüloz (n=36), senna (n=29) ve trimebutin(n=33) tedavisi alan hastalar (2-18 yaş) alındı. Hastalar semptomlarıyla ilgili0-5 Likert anket ölçeğini doldurdular. Dışkı kıvamı (DK) Bristol DışkıSkalasına göre değerlendirildi. Tedaviye uyum, tolerans ve yan etkilerkaydedildi. Klinikteki düzelme (KD) değerlendirildi, farmakoekonomik inceleme yapıldı. Bulgular:Senna grubundaki KD anlamlı ölçüde yüksekti (p=0.036). Senna DK'da en fazlaiyileşme sağladı (p, Objective:Childhood constipation is common and usually functional. Data for the drugsused in maintenance therapy of functional constipation is limited in childhood.Our aim was to evaluate the efficacyof senna, trimebutine and lactulose in children with functional constipation(FC) or functional fecal incontinence (FFI). Material and Methods: Patients (2-18 years old) diagnosed as FC or FFI accordingto Rome III criteria who were treated with lactulose (n=36), senna (n=29) andtrimebutine (n=33)were included. Patients completed a 0-5 Likert scalequestionnaire about their symptoms. Stool consistency (SC) was evaluated byBristol Stool Chart. Compliance and tolerance to treatment and side effectswere recorded. Clinical improvement (CI) and pharmacoeconomic evaluation were performed.Results: CIin the senna group was significantly higher (p=0.036). Senna showed the highestimprovement in SC (p

PurposeBiallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype.MethodsWe aimed to identify patients with SCYL1 variants within an exome-sequencing study of individuals with infantile cholestasis or acute liver failure of unknown etiology. Deep clinical and biochemical phenotyping plus analysis of liver biopsies and functional studies on fibroblasts were performed.ResultsSeven patients from five families with biallelic SCYL1 variants were identified. The main clinical phenotype was recurrent low γ-glutamyl-transferase (GGT) cholestasis or acute liver failure with onset in infancy and a variable neurological phenotype of later onset (CALFAN syndrome). Liver crises were triggered by febrile infections and were transient, but fibrosis developed. Functional studies emphasize that SCYL1 deficiency is linked to impaired intracellular trafficking.ConclusionSCYL1 deficiency can cause recurrent low-GGT cholestatic liver dysfunction in conjunction with a variable neurological phenotype. Like NBAS deficiency, it is a member of the emerging group of congenital disorders of intracellular trafficking causing hepatopathy.Genet Med advance online publication, 8 February 2018; doi:10.1038/gim.2017.260.

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(0.37). Asecond 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 (, 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., C1 [Kuloglu, Zarife; Kansu, Aydan; Selbuz, Suna] Ankara Univ, Sch Med, Dept Pediat Gastroenterol Hepatol & Nutr, Ankara, Turkey., [Kalayci, Ayhan G.] Ondokuz Mayis Univ, Sch Med, Dept Pediat Gastroenterol Hepatol & Nutr, Samsun, Turkey., [Sahin, Gulseren] Dr Sami Ulus Childrens Hosp, Dept Pediat Gastroenterol Hepatol & Nutr, Ankara, Turkey., [Kirsaclioglu, Ceyda Tuna] Haematol Oncol Training & Res Hosp, Ankara Child Hlth Dis, Turkish Republ Hlth Minist, Dept Pediat Gastroenterol Hepatol & Nutr, Ankara, Turkey., [Demiroren, Kaan] Yuzuncu Yil Univ, Fac Med, Dept Pediat Gastroenterol Hepatol & Nutr, Van, Turkey., [Dalgic, Buket] Gazi Univ Univ, Dept Pediat Gastroenterol Hepatol & Nutr, Ankara, Turkey., [Kasirga, Erhun] Celal Bayar Univ, Fac Med, Dept Pediat Gastroenterol Hepatol & Nutr, Manisa, Turkey., [Onal, Zerrin] Univ Med Sci, Bakirkoy Dr Sadi Konuk Res & Training Ctr, Dept Pediat Gastroenterol Hepatol & Nutr, Istanbul, Turkey., [Islek, Ali] Ataturk Univ, Fac Med, Dept Pediat Gastroenterol Hepatol & Nutr, Erzurum, Turkey., [Eren, Esra] Ondokuz Mayis Univ, Sch Med, Samsun, Turkey., [Hosnut, Ferda Ozbay] Dr Sami Ulus Childrens Hosp, Ankara, Turkey., [Urganci, Nafiye; Usta, Ayse Merve] Sisli Etfal Training & Res Hosp, Istanbul, Turkey., [Yaman, Aytac] Haematol Oncol Training & Res Hosp, Ankara Child Hlth Dis, Turkish Republ Hlth Minist, Ankara, Turkey., [Ozkan, Tanju] Uludag Univ, Fac Med, Bursa, Turkey., [Bozbulut, Eksi] Gazi Univ, Fac Med, Ankara, Turkey., [Dogan, Guzide] Celal Bayar Univ, Fac Med, Manisa, Turkey., [Arslan, Duran] Erciyes Univ, Fac Med, Kayseri, Turkey., [Akcam, Mustafa] Suleyman Demirel Univ, Sch Med, Isparta, Turkey., [Isik, Ishak Abdurrahman] Antalya Training & Res Hosp, Antalya, Turkey., [Ecevit, Cigdem Omur; Erdemir, Gulin] Dr Behcet Uz Children Dis & Surg Training & Res H, Izmir, Turkey., [Usta, Yusuf] Mersin Univ, Fac Med, Mersin, Turkey., [Ozgur, Taner] Uludag Univ, Fac Med, Bursa, Turkey., [Ozcay, Figen; Gulsan, Meltem] Baskent Univ, Fac Med, Ankara, Turkey., [Balamtekin, Necati] Guhane Training & Res Hosp, Ankara, Turkey., [Ozturk, Yesim] Dokuz Eylul Univ, Fac Med, Izmir, Turkey., [Cantez, Serdar] Istanbul Univ, Istanbul Fac Med, Istanbul, Turkey., [Gulerman, Fulya; Guven, Burcu] Kirikkale Univ, Fac Med, Kirikkale, Turkey., [Ustundag, Gonca Handan] Bulent Ecevit Uni, Fac Med, Zonguldak, Turkey., [Emiroglu, Halil Haldun] Selcuk Univ, Fac Med, Konya, Turkey., [Karacabey, Neslihan] Erciyes Univ, Fac Med, Kayseri, Turkey., [Comba, Atakan] Hitit Univ, Fac Med, Corum, Turkey., [Aydogan, Aysen Uncuoglu] Kocaeli Univ, Sch Med, Kocaeli, Turkey., [Gokce, Selim] Bezmialem Univ, Fac Med, Istanbul, Turkey., [Kuyum, Pinar] Dokuz Eylul Univ, Fac Med, Izmir, Turkey., [Tosun, Mahya Sultan] Denizli State Hosp, Denizli, Turkey., [Tokgoz, Yavuz] Adnan Menderes Univ, Fac Med, Adnan, Turkey., [Yuksekkaya, Hasan] Necmenttin Erbakan Univ, Fac Med, Ankara, Turkey., [Tumgor, Gokhan; Agin, Mehmet] Cukurova Univ, Fac Med, Ankara, Turkey., [Eren, Makbule] Eskisehir Osmangazi Univ, Fac Med, Eskisehir, Turkey., [Baran, Masallah] Izmir Tepec Training & Res Hosp, Izmir, Turkey., [Gumus, Meltem] Konya Egitim Konya Training & Res Hosp, Konya, Turkey., [Canan, Oguz] Adana Baskent Univ, Adana, Turkey., [Kocamaz, Halil] Pamukkale Univ, Fac Med, Denizli, Turkey., [Cakir, Murat] Karadeniz Tech Univ, Fac Med, Trabzon, Turkey., [Hizli, Samil; Balci Sezer, Oya] Kecioren Training & Res Hosp, Ankara, Turkey., [Dogan, Yasar; Deveci, Ugur] Firat Univ, Fac Med, Elazig, Turkey., [Celtik, Coskun] Sifa Univ, Izmir, Turkey.