IDENTIFICATION OF UNDERLYING CAUSES OF CHRONIC UNSPECIFIC UPPER GASTROINTESTINAL-RELATED SYMPTOMS IN CHILDREN, A PILOT STUDY.

Upper gastrointestinal tract (GIT) symptoms are not disease specific and of limited value in the differentiation of GIT disorders. The present study aimed to determine the etiology of chronic unspecific symptoms in children and to test the need for upper endoscopy in diagnosis. This is a prospective study for 30 Egyptian children presented with chronic upper GIT symptoms for at least 2 months. History regarding severity and frequency of GIT symptoms were asked for. Children with known disorder that explains presenting symptoms were excluded. Upper GIT endoscopy wa performed and 5 biopsies were obtained for pathological examination and for Hpylori testing. The results showed that children age ranged between 2.5-18 years with mean ± SD of 13.6 ± 3.4 and 63.3% were females. The main complaints were epigastric pain in 43.3%, hematemesis in 30% and vomiting in 26.7%. Motility disorders were diagnosed in 66.7% children; in the form of GERD in 63.3% and achalasia in one. Complication of GERD in the form of erosive esophagitis was present in 15.8% children, while Barrett's esophagus was not observed. H. pylori infection was diagnosed in 80% histologically. Eosinophilic esophagitis was not detected.

A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus.

BACKGROUND/AIMS: An association of type 1 DM and familial Mediterranean fever (FMF) has been newly reported in the medical literature. The aim of the present work was to investigate frequency of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus. METHODS: Forty five children with type 1 DM were screened for Mediterranean Fever (MEFV) gene mutation. Forty one healthy control subjects were included. Identification of FMF gene mutation was done based on polymerase chain reaction (PCR) and reverse hybridization. The assay covers 12 mutations in the FMF gene: E148Q - P369S - F479L - M680I (G/C) - M680I (G/A) - I692del - M694V - M694I - K695R-V726A - A744S and R761H. RESULTS: Among the screened diabetics, the overall frequency of MEFV gene mutations was 42.2% and among the control group it was 34.1% with no significant difference. Fourteen out of 45 diabetic children (31.1%) were heterozygous (E148Q in 7 children, A744S in 3 children, V726A in 2 children, M680I (G/C) in 1 child and P369S in1 child), while 5 children (11.1%) were compound heterozygous (M694V/M694I in 2 children, E148Q/K695R mutations in 1 child, E148Q/M694I in 1 child and E148Q/V726A in 1 child). The control group showed heterozygous mutation in 34.1% of cases (E148Q mutation in 14.6%, V726A in 12.2%, M680I (G/C) in 4.9% and M694V in 2.4%). CONCLUSION: No significant difference in mutation frequency between diabetic and non-diabetic children. We have high carrier rate of MEFV gene mutations among Egyptian population probably due to high consanguinity.