Çocuklarda yıllar içinde üst gastrointestinal sistem endoskopi endikasyonları ve bulguları değişiyor mu?

Introduction: There are few studies of diagnostic endoscopy indications in children, despite the fact that it is a commonly performed procedure. The aim of the present study was to determine the relation between indications for upper gastrointestinal system (GIS) endoscopy and endoscopic and histopathologic findings in children in an effort to minimize unnecessary procedures. Materials and Methods: The hospital files of 501 children and adolescents 1-18 years of age who underwent diagnostic upper GIS endoscopy examinations between June 2017 and June 2020 were evaluated retrospectively. Results: The mean age of the 501 patients was 14.5±3.1 years and 311 (62.0%) were female. The most common indications for esophagogastroduodenoscopy (EGD) were epigastric pain (38.7%) and abdominal pain (29.3%) with abnormal endoscopic and histopathologic findings of 88.6% and 92.6%, respectively. The co-detection rates of endoscopic and histologic abnormalities for the esophagus, stomach, and duodenum were 71.8%, 97.6%, and 55.8%, respectively. The most commonly detected endoscopic findings were antral gastritis (66.4%), pangastritis (18.0%), bile reflux (12.6%), and duodenitis (9.4%). The most commonly detected histopathologic findings were chronic gastritis (45.3%), chronic Helicobacter pylori gastritis (37.3%), edematous gastric mucosa (5.4%), coeliac disease (4.4%), and esophagitis (4.4%). No complications were associated with the procedure itself or the required sedation. Conclusion: Diagnostic endoscopy indications may vary between countries and centers. It has been established by many studies that the rates of negative endoscopic procedures and complications associated with EGD are high; therefore, the determination of accurate indications for this procedure is important.Giriş: Sık uygulanan bir işlem olmasına rağmen çocuklarda tanısal endoskopi endikasyonları ile ilgili az sayıda çalışma bulunmaktadır. Bu çalışmanın amacı, çocuklarda üst gastrointestinal sistem (GIS) endoskopisi endikasyonları ile endoskopik ve histopatolojik bulgular arasındaki ilişkiyi belirlemek ve gereksiz işlemleri en aza indirgemektir. Gereç ve Yöntem: Haziran 2017-Haziran 2020 tarihleri arasında tanısal üst GİS endoskopisi yapılan 1-18 yaş arası 501 çocuk ve adolesanın hastane dosyaları geriye dönük olarak değerlendirildi. Bulgular: 501 hastanın yaş ortalaması 14,5±3,1 yıl idi ve 311’i (%62,0) kızdı. Özofagogastroduodenoskopi (EGD) için en yaygın endikasyonlar epigastrik ağrı (%38.7) ve karın ağrısı (%29.3) olup anormal endoskopik ve histopatolojik bulgular sırasıyla %88.6 ve %92.6 idi. Özofagus, mide ve duodenum için endoskopik ve histolojik anormalliklerin birlikte tespit oranları sırasıyla %71.8, %97.6 ve %55.8 idi. En sık saptanan endoskopik bulgular antral gastrit (%66.4), pangastrit (%18.0), safra reflüsü (%12.6) ve duodenit (%9.4) idi. En sık saptanan histopatolojik bulgular kronik gastrit (%45.3), kronik Helicobacter pylori gastriti (%37.3), ödemli mide mukozası (%5.4), çölyak hastalığı (%4.4) ve özofajit (%4.4) idi. İşlemin kendisi veya uygulanan sedasyon ile ilgili herhangi bir komplikasyon görülmedi. Sonuç: Tanısal endoskopi endikasyonları ülkeler ve merkezler arasında farklılık gösterebilir. EGD ile ilişkili negatif endoskopik işlem ve komplikasyon oranlarının yüksek olduğu birçok çalışma ile tespit edilmiştir; bu nedenle, bu prosedür için doğru endikasyonların belirlenmesi önemlidir

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

A pediatric patient with eosinophilic esophagitis presenting with candida esophagitis: Case report

Eozinofilik özofajit, özofagus disfonksiyonu ve özofageal biyopsi örneklerinde eozinofilik inflamasyon ile karakterize klinikopatolojik bir tanıdır. Klinik bulgular yaş gruplarına göre değişmekle birlikte irritabilite, gıda reddi, büyüme geriliği, kusma, regürjitasyon, göğüs-karın ağrısı, katı gıda disfajisi ve mide yanmasını içerir. Eozinoflik özofajitli hem çocuk hem yetişkin hastalarda sıklıkla eşlik eden alerjik hastalıklar (örneğin astım, egzama, besin alerjisi, alerjik rinit) bulunur. Kandida özofajijti, özofagusun kandidiyal enfeksiyonu olup çocukluk çağında çoğunlukla immün yetmezliği olan hastalarda bildirilmektedir. İmmün yetmezliği olmayan çocuklarda çok nadir görülen bir klinik durum olup tedavi edilmeyen kronik gastroözofageal reflü hastalığı ile ilişkili olabileceği bildirilmektedir. Yedi yaşında, inek sütü protein alerjisi ile takipli, dispeptik yakınmalar ve reflü semptomları başlaması nedeniyle özofagogastroduodenoskopi yapılan ve candida özofajiti ile eozinofilik özofajit tanısı alan erkek bir hasta sunulmuştur. Özofagus mukozasının kronik hasarlanmasıyla giden hastalıklarından eozinofilik özofajit ve immün yetmezliği olmayan kişilerde genellikle sağlıksız özofagus mukozası zemininde fırsatçı enfeksiyon olarak ortaya çıkan kandida özofajiti literatürde ilk kez birlikte bildirilmişlerdir. Klinisyenlerin eozinofilik özofajitli hastalarda kandida özofajitinin de olabileceğini akılda tutmaları gerekmektedir.Eosinophilic esophagitis is a clinicopathological diagnosis characterized by eosinophilic inflammation in esophageal biopsy specimens and esophageal dysfunction. Clinical findings vary according to age groups, but includes irritability, food rejection, failure to thrive, vomiting, regurgitation, chest-abdominal pain, solid food dysphagia and heartburn. Both children and adult patients with eosinophilic esophagitis frequently present with concomitant allergic diseases (eg, asthma, eczema, allergic rhinitis). Candida esophagitis is a candidial infection of the esophagus and is often reported in patients with immunodeficiency in childhood. It is a very rare clinical condition in children without immune deficiency and is reported may to be associated with untreated chronic gastroesophageal reflux disease. A 7-year-old male patient, who was followed up with cow's milk protein allergy, underwent esophagogastroduodenoscopy for dyspeptic complaints and reflux symptoms, was diagnosed as candida esophagitis and eosinophilic esophagitis and in this article is presented. Eosinophilic esophagitis, one of the diseases associated with chronic damage of the esophageal mucosa and candida esophagitis, which usually occurs as an opportunistic infection on the ground of unhealthy esophageal mucosa in people without immunodeficiency, has been reported together for the first time in the literature. Clinicians should keep in mind that patients with eosinophilic esophagitis may also have candida esophagitis

A Rare Cause of Carpal Tunnel Syndrome in Childhood: Benign Recurrent Intrahepatic Cholestasis

Carpal tunnel syndrome and benign recurrent intrahepatic cholestasis are rare conditions in childhood. Benign intrahepatic cholestasis is characterized by repeated self-limited attacks of cholestasis that can start at any age and last from weeks to months. The patients are asymptomatic between these attacks. We report a 16 year-old male patient with benign recurrent intrahepatic cholestasis who developed carpal tunnel syndrome during a cholestatic attack. He was admitted with complaints of jaundice, pruritus and pain, tingling and muscle weakness in both hands for 15 days. Nerve conduction studies revealed findings compatible with carpal tunnel syndrome. He was started on ursodeoxycholic acid, fat soluble vitamins and cholestyramine and cholestasis regressed after four weeks of therapy. With the improvement of cholestasis, the symptoms of carpal tunnel syndrome also disappeared. In conclusion, benign recurrent intrahepatic cholestasis can be a rare cause of carpal tunnel syndrome in childhood. We also advocate treating the underlying disease as an appropriate conservative treatment before surgery.WoSScopu

The hla groups and their relationship with clinical features in turkish children and adolescents with celiac disease

Background. We aimed to investigate the relationship between human leukocyte antigens (HLA)-groups and clinical features, and degree of intestinal injury in children with celiac disease (CD). Methods. Study group included 73 (50 females, 68.5%) children with CD. Demographic and clinical features, accompanying autoimmune diseases, family history for CD and degree of damage in small intestinal mucosa (according to Marsh classification) at the time of diagnosis were determined. Twenty-two siblings of celiac patients without CD (15 females, 65.2%) consisted control group 1, and 66 (40 females, 60.6%) people from the normal population consisted control group 2. Results. The allele frequencies of HLA B8, B50, C6, C7, DR3, DR7, DQ2, and DR3 homozygosity were higher in the patient group. HLA DQ2 positivity was 89% in the patient group, 73.9 and 45.5% in control groups 1 and 2, respectively (p <0.0001). HLA A30, C14, DR11, DQ3 frequency were lower in patients compared to both control groups. HLA-DR15 alleles in patient and control group 1 was significantly lower compared to the general population (p <0.05). Thirty (41.1%) patients had typical, 43 (58.9%) patients had atypical presentation. Thirteen (17.8%) patients had other autoimmune diseases. There was no association between coexisting autoimmune diseases and the HLA antigens. Fifteen patients (20.5%) had a positive family history for CD; patients with HLA A69, B41 and C12 alleles had a higher positive family history (p <0.05). Intestinal mucosal damage was as follows: 5 patients (6.8%) had Marsh 2, 25 (34.3%) Marsh 3a, 28 (38.4%) Marsh 3b, 15 (20.5%) Marsh 3c. Patients with HLA-DR15 alleles had more frequent Marsh 3a lesions (p <0.05). Conclusions. B8, B50, C6, C7, DR3, DR7, DR3/DR3, DQ2 alleles were risk factors for CD in the Turkish population. HLA C14, DR11, DR15, and DQ3 alleles were found to have a protective role in the same population

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

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory 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 hos been reported previously