[PAPA syndrome with Crohn's disease and primary sclerosing cholangitis/autoimmune hepatitis overlap syndrome]. / PAPA-Syndrom mit Morbus Crohn und primär sklerosierender Cholangitis/Autoimmunhepatitis-Overlap-Syndrom.

BACKGROUND: The PAPA syndrome, an acronym for pyogenic sterile arthritis, pyoderma gangraenosum and acne, is an autosomal dominant hereditary disease which is caused by a mutation in the PSTPIP1 ("proline-serine-threonine phosphatase interacting protein 1") gene located on chromosome 15 and encodes the proline-serine-threonine phosphatase-interacting protein 1. An association with Crohn's disease (CD), autoimmune diseases of the liver and PAPA syndrome has not yet been reported in the literature. OBJECTIVE: To thoroughly investigate a family with three affected members (mother and 2 children) with newly diagnosed PAPA syndrome and intestinal and hepatobiliary symptoms. MATERIAL AND METHODS: We performed an in-depth phenotyping, dermatologic, radiologic, rheumatologic, gastroenterologic, histologic and genetic analysis in this family. RESULTS: All three family members could be newly diagnosed as suffering from PAPA syndrome and carried the known disease-causing mutation c.688G > A (p.Ala230Thr) in the PSTPIP1 gene. The younger son suffered from CD in addition to PAPA syndrome. The mother additionally suffered from ulcerative colitis (UC) and an overlap syndrome between autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC). A mutation in in the NOD2 ("nucleotide binding oligomerization domain containing protein 2") gene could not be detected in any of the three persons affected. CONCLUSION: We extended the symptoms of PAPA syndrome to CD and autoimmune liver disease. These different disease entities might share a similar pathogenetic mechanism or even represent a new syndrome. This can be clarified in the future by screening patients with PAPA syndrome for intestinal and also hepatobiliary diseases.

Differential effect of a patient-education transition intervention in adolescents with IBD vs. diabetes.

Patient education programs (PEPs) to improve disease management are part of standard and regular treatment in adolescents with diabetes. In Germany, youth with inflammatory bowel disease (IBD) receive individual counseling but not PEPs in group settings. Generic PEPs have been developed in order to improve transition from child-centered to adolescent health services. The aim of the study was to investigate the effects of a transition-oriented PEP on quality of life (QoL) and self-management in young patients with IBD (PEP naive), compared to patients with diabetes (familiar with PEPs). A 2-day transition workshop was oriented at improving psychosocial skills and addressed both generic as well as specific aspects of the condition. A controlled trial on the outcomes of a generic transition-oriented PEP was conducted in 14- to 20-year-old patients with IBD (n = 99) and diabetes (n = 153). Transition competence and QoL were assessed at baseline and 6-month follow-up. Results show that the intervention lead to a significant increase in QoL only in patients with IBD. The PEP significantly improved transition competence in both groups, however to a higher extent in subjects with IBD. CONCLUSION: Transition-oriented PEPs can have differential effects in different patient groups. However, this needs further longitudinal investigations. What is Known: • To date, evidence has accumulated concerning the effectiveness of patient education programs (PEPs) in pediatric health care for chronic conditions such as type 1 diabetes, asthma, atopic dermatitis, or obesity but is less documented in inflammatory bowel disease (IBD). In particular, PEPs in the transition period have not been investigated in youth with IBD. • The current study focuses on evaluating a PEP for transition preparation and management designed to be generically used across different chronic conditions since many aspects of managing chronic conditions share commonalities across conditions. The 2-day workshop included condition-specific modules adapted to the specific medical needs but was otherwise similar in quality and organization among different conditions. What is New: • The transition-oriented PEP was effective in enhancing self-management and transition management skills in both patients with IBD and diabetes; however, effects were higher in youth with IBD. A significant impact of the intervention on patients' QoL compared to the control group was only identified in youth with IBD. • We recommend that patients with IBD have access to PEP as a standard treatment as well as to a transition program during the course of illness.

Childhood onset inflammatory bowel disease: predictors of delayed diagnosis from the CEDATA German-language pediatric inflammatory bowel disease registry.

OBJECTIVES: To examine predictors of delayed diagnosis of inflammatory bowel disease in children and adolescents. STUDY DESIGN: A total of 2,436 patients (age 0-18 years) with Crohn's disease, ulcerative colitis, or unclassified colitis were included from 53 pediatric gastroenterologists. Predictors were examined with the proportional hazards model, presented as hazard ratios (HR) with 95% confidence intervals. HR < 1.0 represent factors associated with late diagnosis. RESULTS: Median time to diagnosis was 4 (2-8) months. Crohn's disease (HR 0.62; 0.56-0.68), and within Crohn's disease, ileal disease (HR 0.77, 95% confidence interval 0.67 to 0.89) were associated with delayed diagnosis. Chances for early diagnosis increased with increasing age (HR 1.07 per year of age; 1.06 to 1.08). There was also an effect by center (HR 0.63, 0.52 to 0.67), but not by sex or country (Austria vs Germany). Growth failure was more common in those cases with delayed diagnosis. CONCLUSIONS: There is still concern about delays in the diagnosis of inflammatory bowel disease in the very young and in children with small bowel disease. Inequalities of care by region require further investigation.

Reinfection rate in children after successful Helicobacter pylori eradication.

OBJECTIVES: This study was performed to determine the rate of Helicobacter pylori reinfection after its successful eradication in children living in Germany. DESIGN: A total of 102 children (48 boys; 31 German and 71 other nationalities; age 1.8-18 years) with a negative (13)C-urea breath test 8 weeks after triple therapy were followed up by a (13)C-urea breath test every 6 months. The cohort included 11 children aged <6 years, 58 children aged > or =6 to 12 years, and 33 children > or =12 years. RESULTS: The mean duration (+/- standard deviation) of follow-up was 15.5 +/- 11.9 months with a maximum of 4.9 years, representing 132 patient years. Only three children (aged 9.7-14.9 years, one German, two Turkish) tested positive at 6, 12, and 18 months, respectively. The calculated reinfection rate was 2.3% per person per year. CONCLUSION: The risk of reinfection with H. pylori is low in children living in Germany. There is no evidence that the reinfection rate depends on the age, sex, or nationality of the child. The low reinfection rate indicates that it is unnecessary to screen or treat asymptomatic family members in order to prevent reinfection.

Acupuncture for treatment of hospital-induced constipation in children: a retrospective case series study.

OBJECTIVE: Acupuncture is a promising option in the treatment of functional bowel disorders. The aim of this study was to evaluate the feasibility and acceptance of acupuncture for the treatment of hospital-induced constipation (HIC) in children. METHODS: Bilateral stimulation of acupuncture point LI11 was applied in 10 children with HIC using fixed indwelling acupuncture needles (0.9 mm long) before considering starting conventional local constipation therapy with laxative suppositories. The clinical records were studied retrospectively for feasibility, acceptance and effectiveness of acupuncture. RESULTS: Acupuncture was feasible in all children and application of the indwelling needles was tolerated without fear. Side effects were not observed. After a median of 3 days of HIC, all children defaecated within 2 h after LI11 stimulation. No patient required conventional local constipation therapy. CONCLUSIONS: Acupuncture for the treatment of HIC is feasible and acceptable. Its effect should be verified in a randomised controlled trial.

Cesarean delivery is associated with celiac disease but not inflammatory bowel disease in children.

OBJECTIVES: The aim of this study was to analyze a possible association between cesarean delivery and enteric inflammatory diseases in children. METHODS: A retrospective, multicenter, case-control study that included 1950 children was performed in cooperation with 26 university and 16 nonacademic children's hospitals. Information on intestinal disease manifestation, together with mode of delivery and gestational age at birth, postnatal complications, and breastfeeding, was collected by the attending physician from children and their parents who were visiting a gastrointestinal outpatient clinic for Crohn disease (CD; 516 cases), ulcerative colitis (250 cases), celiac disease (157 cases), and other gastrointestinal diseases (165 cases) and control subjects who were visiting ophthalmologic, orthodontic, and dental outpatient clinics (862 cases). RESULTS: Whereas the rate of cesarean delivery of children with Crohn disease or ulcerative colitis was similar to that of control subjects, a significantly enhanced likelihood of being born by cesarean delivery was found in children with celiac disease compared with control subjects (odds ratio: 1.8 [95% confidence interval: 1.13-2.88]; P = .014). CONCLUSIONS: The mode of delivery and associated alterations in the development of the enteric homeostasis during the neonatal period might influence the incidence of celiac disease.

Morbus Wilson: Case report of a two-year-old child as first manifestation.

Morbus Wilson, or Wilson's disease, is a genetic disease of copper metabolism. Usually the disease is detected when the first clinical symptoms appear, generally not before 5 years of age. This case report shows that the disease can be detected much earlier if abnormal laboratory findings in the patient's history prompt further investigations.

Osteoporosis in pediatric patients suffering from chronic inflammatory bowel disease with and without steroid treatment.

BACKGROUND: Children and adolescents suffering from inflammatory bowel disease (IBD) are at risk of developing osteoporosis as a result of treatment with corticosteroids as well as of nonsteroidal factors like inflammation and malnutrition. To study the impact of these factors on development of osteopathy, we compared the rate of osteoporosis in steroid-naive and steroid-treated pediatric IBD patients. METHODS: In 90 patients (50 girls) with IBD (34 steroid-naive, 53 steroid-treated, 3 not known) aged 8.8 to 19.2 (14.4 +/- 2.2) years and 52 controls (27 girls) aged 6.1 to 17.6 (12.9 +/- 3.0) years, bone mineral density (BMD) of the lumbar spine was assessed with dual energy x-ray absorptiometry. Areal BMD values were transformed into volumetric densities called bone mineral apparent density (BMAD) and expressed as standard deviation scores (SDS) on the basis of the BMAD values of the controls. RESULTS: The rate of osteoporotic patients (BMAD-SDS < -2) was 8% in girls and 20% in boys. There was a similar proportion of osteoporosis in steroid-naive (12%) and steroid-treated (11%) patients. SDS of body height showed a significant positive correlation with BMD-SDS but not with BMAD-SDS in almost all patient subgroups, indicating an interfering dependency of BMD from bone size. CONCLUSIONS: The prevalence of osteoporosis in pediatric patients with IBD is approximately the same as in adult patients. Osteoporosis is already present before steroid treatment. Data of dual energy x-ray absorptiometry measurements should be transformed into volumetric parameters to compensate for short stature. Otherwise, a lot of growth-stunted patients may be falsely diagnosed as osteopenic.