Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children.

BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder. The prevalence of CSID in Chinese population is unknown and no single case has been reported. METHODS: Sucrose tolerance tests were performed in three children suspected of CSID. Glucose tolerance tests were performed to exclude glucose malabsorption. Blood glucose was measured at fasting and at 30 min, 60 min, 120 min, and 180 min of the study. Gastrointestinal symptoms were recorded up to 4 hours after the study. RESULTS: From December 2008 to June 2011, three children, ranging from 16 to 19 months old, were referred to our tertiary children's hospital due to chronic watery diarrhea and failure to thrive. Laboratory investigations including complete blood counts, ESR, CRP, and serum immunoglobulins were normal. Routine stool culture for bacteria and exam for parasites were negative. Upper endoscopy, colonoscopy and histology were unremarkable. All children failed lactose-free and amino acid-based formulas. All three children had flat sucrose tolerance tests and began to have watery stool 2-4 hours after feeding sucrose test solution. The glucose tolerance tests were normal and no children developed watery stools up to 4 hours after feeding glucose test solution. CONCLUSIONS: This is the first case series of CSID in Chinese children. The diagnosis of CSID can be made based on clinical suspicion and sucrose tolerance test. CSID is probably an under-diagnosed or misdiagnosed disease in Chinese children and should be considered in children with chronic watery diarrhea.

[Efficacy of endoscopic balloon dilatation, stenting and surgery in treating corrosive esophageal stricture of 31 children].

OBJECTIVE: To evaluate the efficacy of endoscopic balloon dilatation, stenting and surgery in treating corrosive esophageal stricture of children. METHOD: We retrospectively analyzed the management of 31 children who were treated with endoscopic balloon dilatation, stenting or gastric tube esophagoplasty because of corrosive esophageal stricture between August 2005 and December 2012. Dysphagia was graded into 4 grades according to Stooler grading methods. The efficacy was divided into 3 grades which were very effective, effective and ineffective according to the improvement of dysphagia. RESULT: Among 31 children with corrosive esophageal stricture, in 22 children the problem was caused by alkali, in 9 by acid; 23 children had long-segment stricture and 8 had short-segment stricture. The number (rates) of cases in whom the endoscopic balloon dilatation was very effective, effective, and ineffective were 12 (38.7%) , 7 (22.6%) , 12 (38.7%) , respectively. The number of cases in whom stenting was effective or ineffective was 1 and 3, respectively. The gastric tube esophagoplasty was very effective and effective in 8 and 2 cases, respectively. Total rates of very effective, effective, and ineffective of 3 treatments were 64.5%, 29%, 6.5% respectively. The efficacy of endoscopic balloon dilatation was better in short-segment stricture and bigger caliber stricture, the efficacy was not so good for other types of strictures. The efficacy of balloon dilatation was not related with the nature of substances (either alkaline or acidic). Compared with very effective group, the ineffective group with longer course of disease before dilatation (t = -2.091, P = 0.048) , smaller stricture calibre (t = 2.855, P = 0.009) , longer stricture segment (t = -3.405, P = 0.003) and longer dilatation time (t = -2.103, P = 0.047) , had statistical significance. CONCLUSION: Endoscopic balloon dilatation was the preferred treatment for corrosive esophageal stricture of children. The efficacy was better in shorter course of disease, short-segment stricture and bigger caliber stricture, for other situations the efficacy was not so good. The efficacy of balloon dilatation was not related with the nature of substances.Stent or surgery can be considered if efficacy of balloon dilatation was not so good.Gastric tube esophagoplasty is an effective treatment for complicated corrosive esophageal stricture.

[A 10-day sequential therapy for eradication of Helicobacter pylori infection in children].

OBJECTIVE: To evaluate the clinical effect of a 10-day sequential therapy which was made up of omeprazole, clarithromycin, amoxicillin-clavulanate and metronidazole for the eradication of Helicobacter pylori (Hp) infection in children. METHOD: A total of 214 children with abdominal pain, who were confirmed to have Hp infection through endoscopy, biopsy, and Hp culture. The 214 cases were randomly divided into four groups. A 10-day sequential therapy group accepted omeprazole 0.8 - 1.0 mg/(kg·d) plus amoxicillin-clavulanate 50 mg/(kg·d) for five days and omeprazole 0.8 - 1.0 mg/(kg·d), clarithromycin 20 mg/(kg·d) and metronidazole 20 mg/(kg·d) for the remaining five days. The 7-day triple therapy group, 10-day triple therapy group and 14-day triple therapy group received omeprazole 0.8 - 1.0 mg/(kg·d), amoxicillin-clavulanate 50 mg/(kg·d) and clarithromycin 20 mg/(kg·d) for 7 days,10 days,14 days, respectively. All drugs were given twice daily. All these patients received (13)C urea breath test ((13)C-UBT) four weeks after the treatment. RESULT: Finally, 199 patients were followed up, and the total rate of loss to follow-up was 7.0% (15/214). Hp eradication rate was 85.2% and 90.2% in the 10-day sequential therapy group on intention to treat (ITT) and per protocol (PP) analyses, 66.0% and 71.4% in the 7-day triple therapy group on ITT and PP analyses; 60.0% and 67.3% in 10-day triple therapy group on ITT and PP analyses, and 78.8% and 82.0% in patients who received the 10-day sequential regimen on ITT and PP analyses, respectively. By ITT analysis, there was significantly difference between the 10-day sequential therapy group and 7-day or 10-day triple therapy group (P < 0.05), while no significant difference was found between the 10-day sequential therapy group and 14-day triple therapy group (P > 0.05). The results of the ITT analysis and the PP analysis were the same. The four groups had neither significant difference in abdominal pain relief (P > 0.05) nor in incidence of adverse reactions (P > 0.05). CONCLUSION: The 10-day sequential regimen was significantly more effective than both 7-day triple regimen and 10-day triple regimen, while had the same eradication rate compared with the 14-day sequential therapy. But 10-day triple regimen to eradicate Hp infection in children had the advantages such as short course of treatment and better compliance.

[Molecular epidemiological study on norovirus among children with acute diarrhea in Guangzhou].

OBJECTIVE: To study molecular epidemiology of norovirus (NV) infections, stool specimens collected from children with acute diarrhea were tested by TaqMan real-time reverse transcription polymerase chain reaction (RT-PCR) for the viral specific nucleic acid segments. METHODS: Fecal samples from a total of 1260 children who had watery diarrhea seen from December 2006 to December 2007 in Guangzhou were analyzed by real-time RT-PCR. The primers and probes used for rapid detection and typing of NV strain target NV sequences were at the ORF1-ORF2 junction, a highly conserved region of the NoV genome. The positive specimens were determined by nested PCR and sequenced. RESULTS: Totally 257 specimens were positive for NV with a positive rate of 20.40%. Shedding of NV type GI was detected in 6.90%, type GII in 16.98% respectively, while the positive number of mixed infection with GI and GII was 44. Of the NV strains that were cloned and sequenced, GI was GI-3, GI-2 and GI-4 detected in positive specimens respectively; meanwhile, GII-4 was most commonly seen in genome II, followed by GII-3 and GII-7. In addition, the average age of children infected with NV was less than 2 years. An epidemic occurred during the winter and early spring (December through the next March). CONCLUSION: NV was one of the important pathogens for acute diarrhea among children in Guangzhou, which suggested GII-4 was the prevalent strain.

[Balloon dilation with gastroscope for esophageal stricture in children].

OBJECTIVE: To evaluate the efficacy and safety of balloon dilation (BD) with gastroscope in treatment of esophageal stricture in children. METHODS: BD was performed in 12 children aged 5 - 59 months, average age 26 months, course of disease was 2 - 26 months, with esophageal stricture, 7 cases with anastomotic strictures secondary to surgical repair of esophageal atresia, 3 with congenital esophageal stenosis, 2 with corrosive esophageal strictures. All procedures were performed under tracheal intubation and intravenous anesthesia using the 3rd grade controlled radial expansion (CRE) esophagus-balloon with gastroscope. Firstly the balloon was inserted into the esophagus through mouth, then put in the gastroscope. Under the direct guidance of gastroscope the balloon was positioned across the stricture, then the balloon was filled with saline to get needed pressure and maintained for 3 minutes. The procedure was repeated 3 times at an interval of 3 minutes. The abdominal pain, melena and vomiting were observed, as well as the diet taken thereafter, the size of the stricture and the nutrition status were observed for 3 to 12 months after the dilation. RESULTS: Twenty-two dilations were performed in 12 cases, 19 succeeded, 3 cases developed complication during the dilation, the total success rate was 86%. The procedure failed in 3 cases and succeeded in 9 cases, the effective rate was 75%. Follow-up and repeated gastroscopy were performed within 3 to 12 months after the dilation, the diameter of the stricture was 9-13 mm, compared with 2-8 mm before the dilation. Eight of the children could take solid food and nutritional status was improved. CONCLUSIONS: BD with the 3rd grade CRE esophagus-balloon under gastroscopy is a simple and effective method to treat esophagus stricture in children, especially for anastomotic strictures secondary to surgical repair of esophageal atresia.

[Genotypic study on the Helicobacter pylori vacA, cagA and iceA genes in the infected children in Guangzhou area].

OBJECTIVE: To investigative vacA, cagA and iceA genes dominant genotypes of Helicobacter pylori (Hp) isolated from children suffering from gastric and duodenal diseases in Guangzhou area. METHODS: Totally 105 children who underwent gastroscopy in Guangzhou Children's Hospital were enrolled into this study. From each patient, 3 biopsy specimens from the gastric antrum were taken, one was used for rapid urease test, one for histological examination, and one for polymerase chain reaction (PCR) for detecting ureA, vacA, cagA, and iceA genes. DNA was prepared directly from the biopsy specimens from the gastric antrum using a QIAamp DNA mini kit (Qiagen, Germany) according to the manufacturer's instructions. Then 11 primers were used for detecting the genotypes including ureas, (s1, s1a, s1b, s1c, s2) and m (m1, m1T, m2) region of vacA, cagA and iceA (iceA1 and iceA2) genotypes in the 105 children. The distribution of the genotypes of Hp was analyzed. RESULT: Among the 105 children, only 52 children were positive by the three methods, among these 52 children, 26 were boys and 26 girls. Hp vacA s1as1c/m2 was detected in 43 out of 52 children (82.7%), s1as1c/m1T in 9.6% (5/52), m region that could not betyped was 7.7% (4/52). No strains presented genotypes vacA s1b, s2, m1. The comparison of the positive ratio of vacA s1as1 c/m2 detected in the children infected with Hp and that of the other combination of signal region and middle region was statistically significantly different (P < 0.01). With regard to cagA gene, cagA(+) gene and cagA(-) gene were found in 90.4% (47/52) and 9.6% (5/52) of the children, respectively. The cagA(+) gene was more frequent in the children infected with Hp. Single iceA1 was detected in 78.8% (41/52) children, and single iceA2 was detected to be 1.9% (1/52), multiple strains infection of iceA1 and iceA2 were detected in 3.8% (2/52) children, iceA1 and iceA2 were not detected in 15.4% (8/52), the comparison of the positive ratio of iceA1 detected in the children infected with Hp and that of the other genotypes was statistically significantly different (P < 0.01). CONCLUSION: The s1as1c/m2, cagA and iceA1 were the dominant genotypes of Hp in the children in Guangzhou area and s1as1c/m2, cagA and iceA1 were the dominant genotypes combination of Hp in the children in this area.

[Genotype of human calicivirus from infants with diarrhea in Guangzhou city in 2001].

OBJECTIVE: To understand the characteristics of human calicivirus (HuCV) infection in infants with diarrhea in Guangzhou city and to study genotype of the virus. METHODS: The authors collected fecal specimens from 22 children with acute nonbacterial gastroenteritis from November to December, 2001. HuCV was detected from the specimens by RT-PCR. The PCR products were cloned into the PMD18-T cloning vector and sequenced. RESULTS: HCV was detected from the specimens of 2 cases (9%, 2/22). The nucleotide sequence analysis revealed that the virus strains belonged to genotype 2 of Norwalk-like viruses. CONCLUSION: HuCV is one of the pathogens causing diarrhea in infants and young children in Guangzhou area. HuCV infection occurred sporadically in autumn and winter.