Arch Dis Child

Gastro-oesophageal reflux in infants under 6 months with cystic fibrosis.

Year 1998
Heine RG. Button BM. Olinsky A. Phelan PD. Catto-Smith AG.
Department of Gastroenterology, Royal Children's Hospital, Melbourne, Australia.
AIM: To establish the incidence of pathological gastro-oesophageal reflux (GOR) in newly diagnosed infants with cystic fibrosis and to identify clinical predictors of increased reflux. METHODS: 26 infants with cystic fibrosis less than 6 months of age (14 male, 12 female; mean (SEM) age 2.1 (0.21) months, range 0.8 to 5.6 months) underwent prolonged oesophageal pH monitoring (mean duration 27.1 (0.49) hours; range 21.3 to 30.2 hours). Reflux symptoms, anthropometric variables, pancreatic status, meconium ileus, genotype, and chest x ray findings were correlated with pH monitoring data. RESULTS: Five infants (19.2%) had an abnormal fractional reflux time of greater than 10%, seven (26.9%) of 5-10%, and 14 (53.8%) of below 5%. Infants who presented with frequent vomiting had a significantly higher fractional reflux time than infants who had infrequent or no vomiting. There was no significant association between abnormal chest x rays and pathological GOR. Sex, genotype, nutritional status, meconium ileus, and pancreatic enzyme supplementation were not significantly associated with pathological GOR. CONCLUSIONS: About one in five newly diagnosed infants with cystic fibrosis had pathological GOR. Pathologically increased reflux was present before radiological lung disease was established. Apart from frequent vomiting, no useful clinical predictors of pathological reflux were found.

Nitric oxide metabolites in cystic fibrosis lung disease.

Year 1998
Grasemann H. Ioannidis I. Tomkiewicz RP. de Groot H. Rubin BK. Ratjen F.
Department of Paediatrics, University of Essen, Germany.
Although the activity of nitric oxide (NO) synthases are increased in lung tissue of patients with cystic fibrosis, the concentrations of nasal and exhaled NO have recently been found to be decreased in cystic fibrosis. This could either be due to reduced NO formation or metabolism of NO within airway fluids. In this study, the stable NO metabolites, nitrate and nitrite, were determined in the saliva and sputum of 18 stable cystic fibrosis patients, 21 cystic fibrosis patients during a pulmonary exacerbation, and in saliva and endotracheal secretions of normal controls. Median saliva concentrations of NO metabolites (nitrate plus nitrite) were 704 mumol/l (95% confidence interval (CI) 419 to 1477) in stable cystic fibrosis patients, 629 mumol/l (95% CI 382 to 1392) in cystic fibrosis patients presenting with pulmonary exacerbation, and 313 mumol/l (95% CI 312 to 454) in controls. Median sputum NO metabolite concentration in stable cystic fibrosis was 346 mumol/l (95% CI 311 to 504). This was not significantly different from cystic fibrosis patients presenting with pulmonary exacerbation (median 184 mumol/l, 95% CI 249 to 572), but significantly higher than in endotracheal secretions of controls (median 144 mumol/l, 95% CI 96 to 260). Sputum NO metabolite concentration in cystic fibrosis pulmonary exacerbation significantly increased during antibiotic treatment. A positive correlation was observed between sputum NO metabolites and lung function in stable cystic fibrosis, suggesting less airway NO formation in cystic fibrosis patients with more severe lung disease. These data indicate that decreased exhaled NO concentrations in cystic fibrosis patients may be due to retention and metabolism of NO within the airway secretions. However, sputum NO metabolites are not a useful marker of airway inflammation in cystic fibrosis lung disease.

Serum bicarbonate and dehydration severity in gastroenteritis.

Year 1998
Narchi H.
Al-Hasa Specialty Services Division, Saudi Aramco-Al-Hasa Health Center, Saudi Aramco Medical Services Organization, Mubarraz, Kingdom of Saudi Arabia.
The concentration of bicarbonate was measured in serum samples from 106 children with gastroenteritis and dehydration. A concentration less than 22 mmol/l was more common in children with severe dehydration, but the magnitude of bicarbonate reduction was not significantly different with increasing degrees of dehydration. Doctors should not rely on the serum bicarbonate concentration when assessing fluid deficit.

Gastrointestinal symptoms in atopic eczema.

Year 1998
Caffarelli C. Cavagni G. Deriu FM. Zanotti P. Atherton DJ.
Clinica Pediatrica, Universita di Parma, Italy.
AIMS: To determine the prevalence of gastrointestinal symptoms in children with eczema and the association of such symptoms with the extent of eczema or skin prick test results. METHODS: Sixty five children with atopic eczema and a control group matched for age and sex were recruited. Their parents completed a questionnaire about the children's gastrointestinal symptoms. The children's skin was examined; their weight, height, and abdominal circumference were measured; and skin prick tests were carried out. RESULTS: Gastrointestinal symptoms, especially diarrhea, vomiting, and regurgitation, were more common in the children with eczema. Diarrhea appeared to be associated with the ingestion of specific foods. Gastrointestinal symptoms were related to diffuse eczema and positive skin prick tests to foods. There was no anthropometric differences between the patient and control groups. CONCLUSIONS: A gastrointestinal disorder is common in children with eczema, especially with diffuse distribution. This may be responsible for substantial symptoms and may play a part in the pathogenesis of the disease and in the failure to thrive with which it is sometimes associated.

Juvenile polyposis in a tropical country.

Year 1998
Poddar U. Thapa BR. Vaiphei K. Rao KL. Mitra SK. Singh K.
Department of Gastroenterology, Pathology and Paediatric Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
The clinical profile, malignant potential, and management of 17 children with juvenile polyposis (more than five juvenile polyps) were evaluated clinically and endoscopically. Colonoscopy and polypectomy were done three weekly until colonic clearance was achieved, and thereafter two yearly. All polyps were subjected to histological examination. Mean age was 7.7 years, with a male preponderance (3:1). Presentation was with rectal bleeding (94%), pallor (65%), stunted growth (53%), and oedema (47%), and the mean (SD) duration of symptoms was 33 (27) months. None had a positive family history or any congenital anomaly. Two children had six polyps up to the transverse colon; the rest had numerous polyps all over the colon. All children had juvenile polyps on histology and 10 (59%) had adenomatous changes (dysplasia). Total colectomy was done in six for intractable symptoms. Colon clearance was achieved in eight after an average 3.4 polypectomy sessions, and three were still on the polypectomy programme. In conclusion, juvenile polyposis is commonly associated with low grade dysplasia. Serial colonoscopic polypectomy is effective but colectomy is required for intractable symptoms and when clearance of the colon is not possible.

Sigmoidoscopy in minor lower gastrointestinal bleeding.

Year 1998
Balkan E. Kiristioglu I. Gurpinar A. Ozel I. Sinmaz K. Dogruyol H.
Uludag University Medical Faculty, Department of Paediatric Surgery, Bursa, Turkey.
The role of sigmoidoscopic examination in the diagnosis, evaluation, and treatment of minor lower gastrointestinal bleeding was investigated. A hundred patients with minor rectal bleeding were examined by rigid sigmoidoscopy under general anaesthesia between January 1989 and July 1996. Patients who had bleeding secondary to infections, anal fissure, or haemorrhoids were excluded from study. Patients were reviewed retrospectively according to their diagnosis and endoscopic and histopathological findings. Twenty nine of these patients were girls and 71 boys; their ages ranged between 8 month and 14 years (mean 7.2 years). Endoscopic pathological findings were established in 60 patients; 32 had rectal polyps, 16 non-specific proctitis, four solitary rectal ulcers, three internal haemorrhoids, two ulcerative colitis, two Hirschsprung's enterocolitis, and one haemangioma. It is concluded that sigmoidoscopic examination should be performed for the diagnosis, prognosis, and choice of treatment in patients with minor rectal bleeding and the diagnosis should be confirmed histopathologically.

Congenital central hypoventilation syndrome and Hirschsprungs disease.

Year 1998
Croaker GD. Shi E. Simpson E. Cartmill T. Cass DT.
Royal Alexandra Hospital for Children, Sydney, Australia.
Five cases of the Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association are presented and 41 other published cases reviewed. These children have a distinct pattern of associated features, an equal sex incidence, and a characteristic spectrum of disease severity which suggests that the condition is genetically distinct from other cases of Hirschsprung's disease. While approximately 1.5% of Hirschsprung's disease patients, and 10% of those with total colonic aganglionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung's disease. Approximately 20% of CCHS/Hirschsprung patients will also have neuroblastoma or ganglioneuroma, usually multiple. Abnormalities of the eye and autonomic nervous system are also common. The ventilatory abnormality is usually evident on the first day of life. The aganglionosis is also severe, with more than half (59%) of the patients having aganglionosis extending into the small bowel.

Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one region.

Year 1998
Cunningham S. Marshall T.
Department of Child Life and Health, University of Edinburgh.
BACKGROUND: Antenatal screening for cystic fibrosis has been endorsed by the US National Institutes of Health. Edinburgh is the only city in the UK with an established routine antenatal screening programme for cystic fibrosis. AIMS: To report the change in numbers of infants diagnosed with cystic fibrosis born in Edinburgh after the introduction of antenatal screening for the disease. POPULATION: Infants diagnosed as having cystic fibrosis (by sweat test or genotyping, or both) in the seven years before antenatal testing (1984-90) and the first five years of antenatal testing (1991-95). Children born in this region who had moved before diagnosis were identified from the UK cystic fibrosis survey database. RESULTS: The incidence of cystic fibrosis decreased from an average of 4.6 to 1.6 children each year with antenatal screening. The reduction in the incidence (65%) was greater than that accounted for by prenatal diagnosis and termination (36%). Of the eight children born with cystic fibrosis during the period of antenatal screening, five had been subject to antenatal screening: three had only one mutation identified, one was missed due to a laboratory error, and one was identified as a one in four risk, but prenatal diagnosis was not performed. CONCLUSIONS: Antenatal testing for cystic fibrosis has successfully reduced the incidence of cystic fibrosis in this region. Although the numbers are small, it is possible that the reduction in numbers may have been greater than might be expected from antenatal screening alone.

Intra-arterial calcium stimulation test in the investigation of hyperinsulinaemic hypoglycaemia.

Year 1998
Abernethy LJ. Davidson DC. Lamont GL. Shepherd RM. Dunne MJ.
Royal Liverpool Children's NHS Trust Alder Hey.
OBJECTIVE: To investigate the use of a calcium infusion test in the diagnosis and localisation of insulin secreting tumours in children. PATIENTS: Three patients with persistent hypoglycaemia of infancy (PHHI). PROCEDURE: During planned selective coeliac and mesenteric arteriography, serial samples were taken from a catheter in the right hepatic vein for insulin measurement following the injection of calcium gluconate. RESULTS: In all three children, selective intra-arterial calcium stimulation produced a significant rise in plasma insulin and was of value in localising the pancreatic abnormality in one child. In vitro studies on islets of Langerhans isolated from this patient following partial pancreatectomy showed unresponsive intracellular calcium signalling of the cells when stimulated with high extracellular concentrations of glucose and potassium or with sulphonylurea drugs (tolbutamide), but normal responsiveness to increasing extracellular calcium concentrations. CONCLUSIONS: The findings suggest a functional abnormality of the calcium channel in PHHI and provide a rationale for the reported efficacy of channel blocking drugs in this condition. The role of selective intra-arterial calcium stimulation in the diagnosis of hyperinsulinaemic hypoglycaemia in childhood warrants further investigation.

Hereditary CD4+ T lymphocytopenia.

Year 1998
Freier S. Kerem E. Dranitzki Z. Schlesinger M. Rabinowitz R. Brautbar C. Ashkirat M. Naparstek Y.
Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel.
Two siblings suffering from mental retardation, progressive bronchiectasis, extensive warts, and persistent hepatitis B are described. The propositus also had an unusual physiognomy and non-specific colitis. Both patients had a marked decrease in the population of CD4+ helper T cells.

Oesophageal atresia, VACTERL association: Fanconis anaemia related spectrum of anomalies.

Year 1998
Perel Y. Butenandt O. Carrere A. Saura R. Fayon M. Lamireau T. Vergnes P.
Department of Paediatrics, Children's Hospital, Groupe Hospitalier Pellegrin, Bordeaux, France.
Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's anaemia may have important genetic and therapeutic implications.

Maintenance of growth in cystic fibrosis despite reduction in pancreatic enzyme supplementation.

Year 1998
Lowdon J. Goodchild MC. Ryley HC. Doull IJ.
Department of Child Health, University Hospital of Wales, Heath Park, Cardiff.
Twenty one children with cystic fibrosis were advised to decrease their pancreatic enzyme supplement (PES) dose to less than 10,000 units lipase/kg/day. Mean PES dosage was significantly decreased in 15 patients from 18,380 to 8647 units lipase/kg/day. There were no significant changes in energy or fat intake, but there were significant increases in weight SD score, height SD score, and weight/height ratio.

Pulmonary function, exercise performance, and growth in survivors of congenital diaphragmatic hernia.

Year 1998
Marven SS. Smith CM. Claxton D. Chapman J. Davies HA. Primhak RA. Powell CV.
University Department of Paediatrics, Sheffield Children's Hospital.
A cohort of survivors of congenital diaphragmatic hernia (CDH), with matched controls, was studied to assess growth, respiratory function, and exercise performance. Nineteen of 24 survivors from an 11 year period (79%) were compared with 19 matched controls. Subjects had detailed auxology, performed spirometry and cycle ergometry, and completed questionnaires about respiratory symptoms and exercise. There were no significant differences between the groups for height, weight, sitting height, head circumference, or body mass index expressed as SD scores. The mean (95% confidence interval) percentage predicted forced vital capacity (FVC) was 84.7% (79.1 to 90.3) in index cases and 96.5% (91.4 to 101.6) in controls (p < 0.01). There was no significant difference in total lung capacity. Expiratory flow rates corrected for FVC were also similar between groups, suggesting normal airway function relative to lung size. Mean maximum oxygen consumption in ml/kg/min was 40.1 (36.8 to 43.4) and 42.2 (38.5 to 45.8) in index and control cases. These differences were not significant. Index cases achieved a similar minute ventilation to controls by more rapid and shallower breathing. Index cases had lower perception of their own fitness and lower enjoyment of exercise, although habitual activity levels were similar. Survivors of CDH repair have reduced functional lung volumes, but normal airway function compared with matched controls. They have no growth impairment nor significant impairment of exercise performance, although they have more negative perceptions of their own fitness. They should be encouraged and expected to participate fully in sport and exercise.