ABSTRACT
Intolerance to lactose or fructose is frequently diagnosed in children with chronic abdominal pain (CAP). However, the causal relationship remains a matter of discussion. A cohort of 253 patients, aged 7-12 years, presenting with unexplained CAP received standardized diagnostics. Additional diagnostic tests were performed based on their medical history and physical and laboratory investigations. Fructose and lactose hydrogen breath tests (H2BT) as well as empiric diagnostic elimination diets were performed in 135 patients reporting abdominal pain related to the consumption of lactose or fructose to evaluate carbohydrate intolerance as a potential cause of CAP. Carbohydrate malabsorption by H2BT was found in 55 (41%) out of 135 patients. An abnormal increase in H2BT was revealed in 30% (35/118) of patients after fructose consumption and in 18% (20/114) of patients after lactose administration. Forty-six percent (25/54) reported pain relief during a diagnostic elimination diet. In total, 17 patients had lactose malabsorption, 29 fructose malabsorption, and nine combined carbohydrate malabsorption. Carbohydrate intolerance as a cause of CAP was diagnosed at follow-up in only 18% (10/55) of patients with malabsorption after the elimination of the respective carbohydrate. Thus, carbohydrate malabsorption appears to be an incidental finding in children with functional abdominal pain disorders, rather than its cause. Therefore, testing of carbohydrate intolerance should only be considered in children with a strong clinical suspicion and with the goal to prevent long-term unnecessary dietary restrictions in children suffering from CAP.
Subject(s)
Abdominal Pain/diagnosis , Carbohydrate Metabolism, Inborn Errors/diagnosis , Chronic Pain/diagnosis , Fructose Metabolism, Inborn Errors/diagnosis , Lactose Intolerance/diagnosis , Malabsorption Syndromes/diagnosis , Abdominal Pain/etiology , Breath Tests , Carbohydrate Metabolism, Inborn Errors/complications , Child , Chronic Pain/etiology , Diagnosis, Differential , Female , Fructose/analysis , Fructose Metabolism, Inborn Errors/complications , Humans , Lactose/analysis , Lactose Intolerance/complications , Malabsorption Syndromes/complications , MaleABSTRACT
AIM: To investigate malabsorption of lactose and fructose as causes of recurrent abdominal pain (RAP). METHODS: In 220 children (128 girls, mean age 8,8 [4.1-16.0] years) with RAP, hydrogen breath tests (H(2) BT; abnormal if ΔH(2) > 30 ppm) were performed with lactose and fructose. Disappearance of RAP with elimination, recurrence with provocation and disappearance with re-elimination, followed by a 6-month pain-free follow-up, were considered indicative of a causal relation with RAP. For definite proof, a double-blinded placebo-controlled (DBPC) provocation was performed. RESULTS: Malabsorption of lactose was found in 57 of 210, of fructose in 79 of 121 patients. Pain disappeared upon elimination in 24/38 patients with lactose malabsorption, and in 32/49 with fructose malabsorption. Open provocation with lactose and fructose was positive in 7/23 and 13/31 patients. DBPC provocation in 6/7 and 8/13 patients was negative in all. However, several children continued to report abdominal symptoms upon intake of milk or fructose. CONCLUSION: Lactose intolerance nor fructose intolerance could be established as causes of RAP, according to preset criteria including elimination, open provocation and DBPC provocation. However, in clinical practice, persistent feeling of intolerance in some patients should be taken seriously and could warrant extended elimination with repeated challenges.
Subject(s)
Abdominal Pain/etiology , Fructose Metabolism, Inborn Errors/complications , Lactose Intolerance/complications , Abdominal Pain/metabolism , Adolescent , Breath Tests , Child , Child, Preschool , Chronic Disease , Double-Blind Method , Female , Fructose Metabolism, Inborn Errors/metabolism , Humans , Hydrogen/metabolism , Lactose Intolerance/metabolism , Male , RecurrenceABSTRACT
BACKGROUND & AIMS: Celiac disease (CD) has been associated with several genetic disorders, but has not been associated with hereditary fructose intolerance (HFI). METHODS: We identified CD in 4 female patients affected by HFI from among 38 Italian HFI patients. RESULTS: Three of these patients were children in whom the CD-associated signs were hypertransaminasemia, failure to thrive, low weight, and short stature, whereas the adult patient had protracted diarrhea notwithstanding a fructose-free diet. The incidence of CD in our group of HFI patients was higher (>10%) than in the general population (1%-3%) (P<.02). CONCLUSIONS: The possibility of an association between these 2 gastrointestinal disorders is important, particularly in the management of HFI patients with persisting symptoms.
Subject(s)
Celiac Disease/complications , Celiac Disease/diagnosis , Fructose Intolerance/complications , Fructose Intolerance/genetics , Genetic Predisposition to Disease , Mutation , Adult , Age Factors , Child , Child, Preschool , Female , Follow-Up Studies , Fructose Intolerance/diagnosis , Fructose Metabolism, Inborn Errors/complications , Fructose Metabolism, Inborn Errors/diagnosis , Fructose Metabolism, Inborn Errors/genetics , HLA-DQ Antigens/genetics , HLA-DR Antigens/genetics , Humans , Incidence , Italy/epidemiology , Pedigree , Retrospective Studies , Risk Assessment , Sampling Studies , Severity of Illness IndexABSTRACT
BACKGROUND/AIM: This study was performed to find a parameter to discriminate symptomatic from asymptomatic subjects with fructose-malabsorption. PATIENTS AND METHODS: Thirty-four subjects (12 m, 22 f; average age, 28.6 years; range 16-60) were investigated after an overnight fast. After intake of 25 g fructose, H2-tests were carried out. Endexspiratory breath samples were taken before the ingestion of the tested sugar and at 30 minute intervals over a 2 hour period. Hydrogen determination was performed immediately after sampling. Results were considered pathological if there was a rise in hydrogen over 20 ppm and a twofold increase from the initial value. Aerobic and anaerobic cultures from stool bacteria were set and incubated with 0.5 g fructose. RESULTS: Among 34 healthy controls, 13 malabsorbers (38%) were detected. Out of these malabsorbers, 6 (46%) reported gastrointestinal concomitant symptoms. Symptomatic and asymptomatic subjects with fructose-malabsorption showed a comparable increase in hydrogen levels. The disappearance rate of fructose in the stool cultures was significantly elevated in the symptomatic group compared with the asymptomatic, but only in the anaerobic culture. CONCLUSION: This activity of colonic bacteria, significantly discriminating symptomatic subjects with fructose-malabsorption from asymptomatic, enhances the importance of fructose-malabsorption in the differential diagnosis of people with non-specific abdominal complaints. Antibiotic therapy in severe cases should be considered a therapeutical approach. Moreover these results may support the role of nutritional carbohydrates in the pathogenesis of colonic diseases.
Subject(s)
Bacteria, Aerobic/metabolism , Bacteria, Anaerobic/metabolism , Colon/microbiology , Fructose Metabolism, Inborn Errors/microbiology , Fructose/metabolism , Adult , Anti-Bacterial Agents/pharmacology , Antitrichomonal Agents/pharmacology , Bacteria, Aerobic/drug effects , Bacteria, Anaerobic/drug effects , Breath Tests , Diagnosis, Differential , Feces/chemistry , Feces/microbiology , Female , Fructose/analysis , Fructose Metabolism, Inborn Errors/complications , Fructose Metabolism, Inborn Errors/diagnosis , Humans , Hydrogen/analysis , Male , Metronidazole/pharmacology , Polymyxin B/pharmacology , Vancomycin/pharmacologyABSTRACT
Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.
Subject(s)
Fructose Metabolism, Inborn Errors , Fructose-1,6-Diphosphatase Deficiency , Child, Preschool , Female , Fructose Metabolism, Inborn Errors/blood , Fructose Metabolism, Inborn Errors/complications , Fructose Metabolism, Inborn Errors/diagnosis , Fructose-1,6-Diphosphatase Deficiency/blood , Fructose-1,6-Diphosphatase Deficiency/complications , Fructose-1,6-Diphosphatase Deficiency/diagnosis , Gluconeogenesis/physiology , Humans , Hyperbilirubinemia, Hereditary/enzymology , Hypoglycemia/etiology , Infant , Infant, Newborn , Infant, Premature, Diseases/blood , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/enzymology , Leukocytes/enzymology , Liver/enzymology , MaleABSTRACT
A seven months old infant presented with recurrent episodes of acidosis and hypoglycemia triggered by fasting and febrile infections. The diagnosis of fructose-1,6-diphosphatase deficiency was made by demonstrating the enzyme deficiency in a liver biopsy specimen. Fructose-1,6-diphosphatase is a key enzyme of gluconeogenesis. Fructose-1,6-diphosphatase deficiency results in hypoglycemia and lactic acidosis during episodes of fasting. Diagnosis is made preferably by liver biopsy. Treatment includes elimination of fructose and sucrose from the diet and avoidance of fasting. Acute attacks are treated by intravenous infusion of glucose and bicarbonate if necessary.
Subject(s)
Acidosis, Lactic/etiology , Fructose Metabolism, Inborn Errors/complications , Fructose-1,6-Diphosphatase Deficiency/complications , Hypoglycemia/etiology , Biopsy , Diagnosis, Differential , Fructose-1,6-Diphosphatase Deficiency/diagnosis , Fructose-1,6-Diphosphatase Deficiency/genetics , Genes, Recessive , Humans , Infant , Liver/pathology , Male , RecurrenceABSTRACT
A report is given on 2 patients with postoperative liver and kidney insufficiency who showed a hereditary fructose intolerance (HFI) after the infusion of fructose and sorbitol. The pathophysiological and clinical signs of this rare disease are described. Since irreversible organ damage occurs already after the infusion of more than 30 to 40 grams fructose or sorbitol, every therapy is questionable. Therefore, prophylactic measures are important in infusion therapy. Particularly in emergency patients and during the preanaesthetic investigation of patients, HFI must be taken into account in adults.
Subject(s)
Fructose Intolerance/complications , Fructose Metabolism, Inborn Errors/complications , Fructose/adverse effects , Sorbitol/adverse effects , Adult , Female , Fructose/administration & dosage , Humans , Sorbitol/administration & dosageABSTRACT
A neonate is described whose clinical condition rapidly and irreversibly deteriorated on day two. He developed a profound acidosis, hypoglycaemia and a shock-like syndrome. The infant was centrally cyanosed and had a systolic murmur from a moderately severe pulmonary valve stenosis and a small atrial septal defect. The overwhelming acidosis was inconsistent with the severity of the congenital heart defects and as no infection was found a metabolic cause was sought. Liver tissue obtained at autopsy shortly after death on day four, showed deficiencies of fructose-1, 6-biphosphatase and aldolase.
