Incidence of inflammatory bowel disease in finnish children, 1987–2003

Turunen, Pieta; Kolho, Kaija‐Leena; Auvinen, Anssi; Iltanen, Sari; Huhtala, Heini; Ashorn, Merja

doi:10.1097/00054725-200608000-00002

Cited by 156 publications

(142 citation statements)

References 31 publications

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“…Overall, 20% to 25% of IBD cases involve children younger than 20 years, 42 but less than 14% of pediatric patients present before 6 years of age. 43 IBD-like manifestations have been reported in both quantitative and qualitative neutrophil disorders, including chronic and cyclic neutropenia, leukocyte adhesion deficiency-1, and glycogen storage disease-1b, in addition to CGD. 44 When screening patients with IBD-like symptoms for NADPH oxidase defects, the DHR123 assay may be better suited than the NBT test because the former is quantitative and also detects only intracellular oxidase activity, expected to be reduced even in the case of NCF4 defects.…”

Section: Discussionmentioning

confidence: 99%

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

Matute

Arias

Wright

et al. 2009

Blood

364

267

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Chronic granulomatous disease (CGD), an immunodeficiency with recurrent pyogenic infections and granulomatous inflammation, results from loss of phagocyte superoxide production by recessive mutations in any 1 of 4 genes encoding subunits of the phagocyte NADPH oxidase. These include gp91 phox and p22 phox , which form the membrane-integrated flavocytochrome b, and cytosolic subunits p47 phox and p67 phox . A fifth subunit, p40 phox , plays an important role in phagocytosisinduced superoxide production via a phox homology (PX) domain that binds to phosphatidylinositol 3-phosphate (PtdIns(3)P). We report the first case of autosomal recessive mutations in NCF4, the gene encoding p40 phox , in a boy who presented with granulomatous colitis. His neutrophils showed a substantial defect in intracellular superoxide production during phagocytosis, whereas extracellular release of superoxide elicited by phorbol ester or formyl-methionyl-leucyl-phenylalanine (fMLF) was unaffected. Genetic analysis of NCF4 showed compound heterozygosity for a frameshift mutation with premature stop codon and a missense mutation predicting a R105Q substitution in the PX domain. Parents and a sibling were healthy heterozygous carriers. p40 phox R105Q lacked binding to PtdIns(3)P and failed to reconstitute phagocytosis-induced oxidase activity in p40 phox -deficient granulocytes, with premature loss of p40 phox R105Q from phagosomes. Thus, p40 phox binding to PtdIns(3)P is essential for phagocytosis-induced oxidant production in human neutrophils and its absence can be associated with disease. IntroductionSuperoxide production by the phagocyte NADPH oxidase during the respiratory burst is an essential component of the innate immune response. The active enzyme is assembled from a membrane-bound flavocytochrome b, a heterodimer composed of gp91 phox and p22 phox subunits, and cytosolic regulatory components p47 phox , p67 phox , p40 phox , and the Rac GTPase. 1,2 Genetic defects in the NADPH oxidase cause chronic granulomatous disease (CGD), characterized by absent or markedly reduced enzyme activity, recurrent bacterial and fungal infections, and granulomatous inflammation that can involve multiple organs, including the genitourinary and gastrointestinal tracts. 1,3 Recent retrospective studies report clinical and genetic findings on more than 900 patients. [4][5][6][7] Although there is some ethnic and regional variation, approximately two-thirds of CGD patients have recessive mutations in the X-linked CYBB gene encoding gp91 phox , and the remainder have autosomal recessive defects in CYBA, NCF1, or NCF2, encoding p22 phox , p47 phox , or p67 phox , respectively. Mutations involving p40 phox or Rac have not been reported as causes of CGD. An infant with a dominant-negative mutation in the hematopoietic-specific Rac2 GTPase was reported, with partial oxidase defects, markedly impaired leukocyte migration and adhesion, and a clinical picture that resembled leukocyte adhesion deficiency rather than CGD. 8,9 In the majority of CGD cases, the gen...

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Section: Discussionmentioning

confidence: 99%

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

Matute

Arias

Wright

et al. 2009

Blood

364

267

View full text Add to dashboard Cite

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“…The recent pediatric study from the Czech Republic (Moravia), conducted between 1990 and 2001, reports the incidence of CD at 0.97 and UC at 1.12 [13]. Also, in a Finnish survey conducted between 1987 and 2003, the incidence of UC was much higher than the incidence of CD [40]. …”

Section: Discussionmentioning

confidence: 99%

Epidemiology of Inflammatory Bowel Disease among Children in Poland

et al. 2009

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Background/Aims: The incidence of pediatric inflammatory bowel disease (IBD) in Western countries is on the rise. No prospective studies have been conducted on the epidemiology of pediatric IBD in Poland. The aim of the study was to define the characteristics of new pediatric IBD and assess the incidence of new IBD among children in Poland between 2002 and 2004. Methods: Patient records from 24 pediatric gastroenterology centers servicing the whole population of Poland were collected. IBD diagnosis was based on clinical, radiological, endoscopic and histological features. Results: There were 491 new IBD patients, representing an overall incidence of IBD of 2.7 cases/100,000 children/year. The incidence of Crohn’s disease (CD) was 0.6, ulcerative colitis (UC) 1.3, and indeterminate colitis (IC) 0.8. The age-related incidence of IBD was 1.8 in the 0- to 10-year-old age group, rising to 3.7 for the 11- to 18-year age group. Conclusions: The overall incidence of IBD (as well as CD, UC and IC) in Poland is lower than that in Western countries. The relative contribution of UC and IC to the overall IBD incidence is higher in Poland than in most Western countries. These findings may suggest a tendency towards under- or misdiagnosis.

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“…It is intriguing, and indeed may seem superficially paradoxical, that the countries of Northern Europe where the incidence of CD and IBD are highest, [41][42][43][44] have the lowest carriage of the commonest pre-disposing mutations identified thus far. The PAR relating to the common three NOD2/CARD15 mutations in Northern Europe is significantly lower than Southern Europe.…”

Section: Regression Analysis Of CD Susceptibility Genes In Scottish Cmentioning

confidence: 99%

Detailed assessment of NOD2/CARD15 exonic variation in inflammatory bowel disease in Scotland: implications for disease pathogenesis

et al. 2008

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The high incidence of Scottish Crohn's disease (CD) is not explained by the common three NOD2/CARD15 variants. We aimed to identify population-specific NOD2/CARD15 coding variants. A total of 1478 (320 inflammatory bowel disease patients o16 years, 343 adult CD patients, 542 parents and 273 controls). All NOD2/CARD15 exons were sequenced in 24 CD patients. Sequencing identified 18 single-nucleotide polymorphisms (SNPs) including 4 non-synonymous coding SNPs altering the structure of the Leucine-rich region-two were well established (1007-/C and 908G/R). Two other variants, valine955isoleucine (955V/I) and methionine863valine (863M/V), were genotyped in all subjects. 863M/V carriage was not significantly higher in CD patients vs controls (1.35 vs 0.37%, P ¼ 0.27). 955V/I carriage was no higher in CD or ulcerative colitis patients (12.8 and 15.8%, respectively) compared to controls (16.2%). Transmission disequilibrium test analysis was negative. 955V/I carriage was higher in indeterminate colitis patients (n ¼ 29) compared to controls (41.4 vs 16.2%, P ¼ 0.001, OR ¼ 3.6 (1.6-8.2)). Population-specific NOD2/CARD15 exonic variants do not account for the high-CD prevalence in Scotland.

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Incidence of inflammatory bowel disease in finnish children, 1987–2003

Abstract: The incidence of pediatric IBD almost doubled in Finland from 1987 to 2003. Surgical intervention was common early in the disease course.

Cited by 156 publications

References 31 publications

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

Epidemiology of Inflammatory Bowel Disease among Children in Poland

Detailed assessment of NOD2/CARD15 exonic variation in inflammatory bowel disease in Scotland: implications for disease pathogenesis

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