Annual screening detects celiac disease in children with type 1 diabetes

Objective:  To investigate the prevalence of celiac disease (CD) in a cohort of type 1 diabetes mellitus (T1DM) children and adolescents at the time of clinical diagnosis and to evaluate the screening procedure and possible role of human leukocyte antigen (HLA)-DQ during a 5-yr follow-up.
Research design and methods:  The study group was a cohort of 300 newly diagnosed T1DM children and youths younger than 20 yr followed for 5 yr at six clinical centers for pediatric diabetes in the region Skåne in Sweden. Immunoglobulin A endomysium antibodies were used to screen the patients annually to be considered for an intestinal biopsy. All patients were analyzed for HLA-DQA1-B1 genotypes.
Results:  While 0.7% (2/300) already had a diagnosed symptomatic CD, an additional 3% (10/300) had silent CD at the diagnosis of T1DM. During follow-up, another 6% (17/300) developed CD as follows: 10 after 1 yr, 5 after 2 yr, 1 after 3 yr, and 1 after 5 yr. Therefore, the cumulative frequency of CD confirmed by intestinal biopsies was 10% (29/300). HLA genotypes among T1DM patients developing CD were not different from those among patients with T1DM alone.
Conclusions:  Our study confirmed the low prevalence (0.7%) of diagnosed symptomatic CD at the time of clinical diagnosis but document by screening an increasing prevalence of silent CD during a 5-yr follow-up to reach an overall prevalence of 10%. We suggest that children with T1DM should be screened for CD at the onset of T1DM and annually for a minimum of at least 2 yr. HLA genotypes among T1DM patients developing CD were not different from those among patients with T1DM alone.     

Serologic testing for inflammatory bowel disease

OBJECTIVES: To determine the accuracy of anti-neutrophil cytoplasmic antibodies (ANCAs) and anti-Saccharomyces cerevisiae antibodies (ASCA) in distinguishing patients with inflammatory bowel disease from patients with other disorders, seen in a pediatric gastroenterology clinic setting, and in distinguishing ulcerative colitis (UC) from Crohn's disease (CD). STUDY DESIGN: Serum samples from 120 children with new or established diagnoses of UC (n = 25) or CD (n = 20) and control children (n = 74) were analyzed in blinded fashion for the presence of IgG ANCAs and IgA and IgG ASCA. RESULTS: The highest sensitivity for detecting inflammatory bowel disease, 71%, was achieved by using ANCAs and ASCA together. The best test for UC was ANCAs, which had a sensitivity of 80%. However, the ANCA pattern characteristic of UC, perinuclear ANCAs eliminated by DNAse, had a sensitivity of 60%. High-titer ANCAs were specific for UC, whereas ASCA were specific for CD. CONCLUSIONS: Testing for ANCAs and ASCA together did not achieve sensitivity necessary for population screening. However, ANCAs and ASCA may be helpful in evaluating children suspected of having inflammatory bowel disease and in distinguishing UC from CD.     

儿童炎症性肠病53例临床分析

目的　探讨儿童炎症性肠病 (IBD)的临床特点 ,以提高儿童IBD的诊治和管理水平。方法　对 1992～2 0 0 2年 5 3例IBD患儿的临床资料进行回顾性分析。结果　IBD的患病率逐渐增加 ,5 3例IBD中克罗恩病 (CD)2 6例 ,溃疡性结肠炎 (UC) 2 7例。 2 7%的CD和 4 5 %的UC发病在 6岁以下 ,有 5例 (19% )UC发病在 1岁以内 ;男女性别无显著性差异 (P >0 0 5 ) ;发病至确诊平均时间CD为 5 0周 ,UC为 4 8周。临床表现CD以发热、腹痛为主要表现 ,UC以腹泻、便血为主要表现 ;胃肠外表现CD可见口腔溃疡、关节炎等 ,UC可见肛周病变、口腔溃疡等 ,两组患儿生长发育障碍的发生率均较高 (CD 6 5 % ,UC 5 9% ,P >0 0 5 )。病理改变CD以破坏和慢性增殖改变并存为特点 ,病灶均累及回肠末端及回盲部 ;而UC以急性炎症和渗出为主 ,病灶均累及直肠。外科合并症的发生率CD为 15 4 % ,UC为 14 8% ;儿童IBD治疗效果不满意 ,短期缓解率CD为 5 9% ,UC为 5 6 %。结论　IBD可以累及包括婴幼儿在内的各年龄组儿童 ,诊断的滞后以及缺乏系统的管理是临床亟待解决的问题。     

儿童炎症性肠病临床及结肠镜下特点分析

目的 探讨儿童炎症性肠病的临床特点,分析结肠镜及活组织学检查对疾病诊断的重要性.方法 研究在我院住院的34例炎症性肠病患儿的临床表现、实验室检查、结肠镜下特点及活检组织学特点,分析其诊断价值.其中克罗恩病(CD)10例,溃疡性结肠炎(UC)24例.结果 CD组中,轻-中度活动型4例,重度活动型6例.临床表现以腹痛多见(80%,8/10);并发症:肠穿孔1例,肠梗阻2例,肛瘘2例.UC组中,轻度5例,中度14例,重度5例.临床表现以腹泻为主(23/24,96%);肛周疾病3例,并发慢性肠套叠1例.CD组血沉、C反应蛋白水平较UC组高(X2=15.938、11.184,P均<0.01).10例CD中,小肠结肠型6例(60%),结肠型1例(10%),小肠捌3例(30%).结肠镜下表现有节段性分布、溃疡多样性、修复性改变、部分肠管狭窄僵硬等特点.24例UC中,全结肠累及者6例(25%),乙状结肠、直肠累及者14例(58%),左半结肠累及者7例(29%),结肠镜下表现为连续性黏膜充血水肿、糜烂,多发浅溃疡多见,溃疡多不规则,7例(29%)可见假息肉形成,黏膜桥未见.CD活检组织学均有淋巴细胞浸润,1例见裂隙状溃疡,2例见上皮性肉芽肿.UC活检标本均有多量中性粒细胞、淋巴细胞、浆细胞等炎性细胞浸润表现,其中4例(17%)见隐窝脓肿.结论 儿童炎症性肠病的临床特点具有非特异性,结肠镜结合组织活检对UC的诊断有可靠的价值.对于结肠型或小肠结肠型CD,结肠镜检查有重要意义,组织活检特异性不高,可多部位、深凿活检以提高阳性率,协助诊断.     

Incidence of inflammatory bowel disease in children in Brittany (1994-1997). Breton association of study and research on digestive system diseases (Abermad)]

BACKGROUND: The aim of this work was to determine in Brittany the incidence and main clinical pattern of inflammatory bowel disease (IBD) occurring during childhood. These data are compared to the previous epidemiologic data available from the Northern France registry or around the world. METHODS: Private and public Brittany gastroenterologists (2,836,418 inhabitants including 618,049 children under 17 years of age) referred all patients consulting for inflammatory bowel disease from January 1994 to December 1997. An interviewer-practitioner completed at the gastroenterologist's office a standard questionnaire for each patient. Each case was independently reviewed by four experts in a blind manner and made a final diagnosis of Crohn's disease (CD), ulcerative colitis (UC), or ulcerative proctitis and acute colitis (onset of symptoms < 6 weeks) or unclassified chronic colitis. RESULTS: Among 1,309 cases recorded, 88 were under 17 years of age (6.7%): 43 (49%) had CD (including three possible cases), 14 (16%) had UC (including three proctitis), 24 (27%) acute colitis and 7 (8%) unclassified chronic colitis. The crude mean annual incidence (per 100,000 children) based on definite and probable cases only was 2.5 for IBD, 1.6 for CD and 0.57 for UC, without variation between 1994 and 1997. The male/female ratio was 2.3 for CD and 1.3 for UC. The mean time between onset of disease and diagnosis was equal to 7.2 and 8.6 months for CD and UC respectively (median: 3 and 5 months). A familial history of IBD was present in 5 cases (8%). In CD, the small and large bowel were involved in 58% of patients, whereas an isolated involvement of small or large bowel occurred in 15% and 23% of cases. Among the 14 UC, there were three proctitis and four pancolitis. Among 43 CD, a granuloma was present in 48% of cases. CONCLUSIONS: In Brittany the incidence of CD and UC in childhood was similar to the published data from Northern France. Clinical presentation and symptoms were not different. However, the rate of acute colitis was higher and the accurate incidence of IBD could be underestimated, requiring a follow-up to classify these cases.     

Incidence of inflammatory bowel diseases in children in the Nord-Pas-de-Calais region

The incidence of inflammatory bowel disease (IBD) in French children is not known. Therefore we conducted a prospective epidemiologic study of IBD in the region Nord-Pas-de-Calais (3.9 millions inhabitants). During the first 17 months of the study each new suspected case was reported by all (private and public) gastroenterologists in the region (n = 104) and a questionnaire was filled up at the gastroenterologist office by an epidemiologist. The final diagnosis of Crohn's disease (CD), ulcerative colitis (UC) or proctitis was made in a blind manner by two expert gastroenterologists. During the period under study, 47 new cases of IBD were registered in children (less than 17 years of age); 31 (66%) had CD, 7 (15%) had UC, and 9 (19%) had unclassified colitis. The incidence was 2.07/100,000 children/year for CD and 0.46/100,000 children/year for UC. These preliminary data suggest that the incidence of CD is high in Northern France.     

Inflammatory bowel disease in children and adolescents in Sweden, 1984-1995

BACKGROUND: A prospective study of inflammatory bowel disease (IBD) in Sweden was performed to investigate whether the incidence and morbidity have changed from 1984 through 1995. METHODS: Children 15 years of age or less with IBD were included--i.e., those with a definite diagnosis of ulcerative colitis (UC) and Crohn's disease (CD) and those classified as having indeterminate colitis (IC) and probable Crohn's disease (PCD). The study covered 56.5% of the pediatric population of Sweden. RESULTS: The diagnosis of IBD was made in 639 children, which corresponds to a mean annual incidence of 5.8 per 100,000. The incidence increased from 4.6 per 100,000 per year from 1984 through 1986 to 7.0 from 1993 through 1995. It reflected an increase in UC from 1.4 to 3.2 per 100,000 per year, which is a significant yearly percentage of increase (8%; confidence interval, 2-14%; P < 0.05). In contrast, no change occurred in the incidence of CD (1.2-1.3 per 100,000). The incidence of IC and PCD also remained fairly stable. The percentages of children who underwent surgery decreased from 17.3% in the first 6 years to 4.6% in the last 6 years (P < 0.001). Surgery was performed in 27.7% of CD and 5.3% of UC cases. The median age at diagnosis was 12.2 years for UC, 13.0 years for CD, 11.2 for IC, and 11.2 for PCD. At diagnosis, 48 children (7.5%) were 5 years of age or less, whereas most of the patients were 11 years of age or more (398 children, 62.3%). CONCLUSIONS: In Sweden, the incidence of UC has increased, whereas that of CD remains the same. A significant number of children were classified with IC and PCD. In most children, IBD was diagnosed when they were 11 years old or more, but some cases were detected even in those below 6 years of age. A decrease in the frequency of surgery occurred during the study.     

Follow-up of 60 children with ulcerative colitis and Crohn disease

The clinical courses of 60 children suffering from ulcerative Colitis (UC, n = 21) and Crohn's disease (CD, n = 39) were investigated over a period of 8.7 and 5.1 years respectively. At the time of diagnosis all UC-patients showed mucohemorrhagic feces. Relapses often occurred after emotional stress and in 81% of all patients during the winter season. Typical late complications were arthritis (6/21), osteoporosis (6/21), allergic diseases (8/21) and diabetes mellitus (2/21). However, the psychosomatic development appeared normal in at least 17/21 of these patients. Generally the courses in children with CD were more serious. Despite intensive therapy 15/39 children developed an intestinal stenosis which was followed by bowel resection in 11 of them. Further complications were fistulas (6/39), abscess-formations (4/39) and osteoporosis (12/39) due to steroid therapy. Only 12/39 showed a significant catch-up growth. Interviews and psychological tests revealed that CD-patients were introverted with strong connections to their families. Equally they longed for approval and social contact with their contemporaries.     

Antigranulocyte monoclonal antibody immunoscintigraphy in inflammatory bowel disease in children and young adolescents

Aim: Diagnostic delay for inflammatory bowel disease (IBD) is frequent, especially in paediatric patients. Scintigraphy with labelled leucocytes has been proposed as a very sensitive diagnostic tool for detecting bowel inflammation. The aim of this study was to evaluate the sensitivity and specificity of immunoscintigraphy in the diagnosis and follow-up of children with IBD and to compare this technique with other diagnostic techniques.

Methods: Sixty-six children with histologically confirmed IBD were enrolled in the study. Twenty-one children in whom IBD was suspected but subsequently not confirmed were used as controls. A total of 138 immunoscintigraphies were performed using 99m Technetium-labelled monoclonal anti-granulocyte antibodies. Immunoscintigraphy was also compared with other diagnostic techniques.

Results: Overall sensitivity of monoclonal antibody immunoscintigraphy (MoAb-IS) in patients with clinically active disease was 94% for Crohn's disease (CD) and 85% for ulcerative Ultrasonography, endoscopy and radiology were carried out at the same time in 29 patients with CD and in 6 patients with UC: sensitivity of IS was 90% compared with 76% of colonoscopy, 75% for enemas, and 55% for sonography. IS was negative (specificity) in 24% of patients with CD and in 67% of patients with UC during remission, and in 64% of controls with other causes of intestinal inflammation. Diagnostic delay was significantly shorter when compared with a historical cohort of patients.

Conclusion: Immunoscintigraphy is a highly sensitive detector of intestinal inflammation in young patients with IBD and can be useful for reducing diagnostic delay. However, its specificity is low and all positive cases must be confirmed histologically. colitis (UC).     

Autoimmune characteristics in Japanese children diagnosed with type 1 diabetes before 5 years of age

Background:  Several studies have shown that the autoimmune features in young children with type 1 diabetes differ from those in older pediatric patients as well as adults. The purpose of the present study was to examine the prevalence of β-cell autoantibodies, glutamic acid decarboxylase antibodies (GADA), and antibodies to the protein tyrosine phosphatase-related molecule IA-2 (IA-2A), at the time of diagnosis in Japanese children with type 1 diabetes who were younger than 5 years at diagnosis.
Methods:  Subjects consisted of 23 Japanese children (nine boys, 14 girls), 3.1 ± 1.3 years of age at diagnosis (range, 1.1–4.8 years). The majority had severe metabolic decompensation accompanied by complete absence of β-cell function at diagnosis. We found 41.7% to have suffered viral infections before disease onset.
Results:  The prevalence of antibodies to GAD and IA-2 at diagnosis in these subjects was significantly lower than those in older patients diagnosed after 5 years of age (31.6 % vs 86.3% and 47.1% vs 82.5%, P  < 0.0001 and P  = 0.0064, respectively). Among 17 patients in whom both antibodies were measured, only two (11.8%) had both GADA and IA-2A, three (17.6%) had GADA alone, six (35.3%) had IA-2A alone, and six (35.3%) had neither GADA nor IA2-A.
Conclusions:  Non-autoimmune mechanisms or age-related differences in autoimmunity could be involved in the pathogenesis of diabetes in young patients.     

Chronic inflammatory bowel disease in children in western Norway

The incidence of Crohn's disease (CD) and ulcerative colitis (UC) in children in western Norway was estimated in a prospective epidemiological study during the years 1984 and 1985. The total population in the area was 807,000 and the child population was 198,570 (1984). There were 27 new cases of chronic inflammatory bowel disease (IBD) in children aged 15 years or less, 10 new cases of CD, and 17 of UC. The mean annual incidence of CD in the child population was 2.5/100,000/year, whereas the incidence of UC in the child population was 4.3/100,000/year. Nearly all the children had abdominal symptoms. In this study, we found an incidence of CD in children that is the highest hitherto reported, to our knowledge. To the contrary, the incidence of UC was considerably lower than previously reported from northern Europe.     

Anthropometry at the time of diagnosis in Danish children with inflammatory bowel disease

All patients below 15 y of age living in the eastern part of Denmark with a diagnosis of inflammatory bowel disease (IBD) during the period 1998-2000 were identified (n=94) and anthropometrical data at the time of diagnosis were evaluated.CONCLUSION: The height-for-age and the BMI-for-age, as evaluated by z-scores, of children with ulcerative colitis (UC) did not differ from those of normal Danish children, but Crohn's disease (CD) children had significantly lower height and BMI values, both when compared to normal children and children with UC. In contrast to UC, CD is frequently complicated by malnutrition and growth retardation at the time of diagnosis.     

儿童炎症性肠病生物学标志物检测及其临床意义

目的探讨生物学标志物在炎症性肠病(IBD)患儿诊断和鉴别诊断中的意义。方法选择IBD患儿22例,其中溃疡性结肠炎(UC)6例,克罗恩病(CD)16例;非IBD儿童24例。用间接荧光法测定血清核周型抗中性粒细胞胞浆抗体(pANCA),酶联免疫法测定抗酿酒酵母抗体(ASCA)IgG和IgA、抗乙糖苷甘露糖抗体(AMCA)IgG、抗乙糖苷壳糖抗体(ACCA)Ig A、抗细菌鞭毛蛋白抗体cBir1-IgG(Anti-c Bir1-IgG)和粪钙卫蛋白(FC)水平。结果 UC患儿血p ANCA抗体均阳性(100.0%),而CD患儿和非IBD儿童均阴性,三组间差异有统计学意义(P0.01)。CD患儿血ASCA Ig A和抗cBir1-IgG阳性率均为62.5%,血ASCA Ig G阳性率为50.0%,血ACCA Ig A和AMCA IgG阳性率均为37.5%;而UC患儿和非IBD儿童上述抗体均阴性,差异有统计学意义(P均0.01)。IBD患儿FC阳性率为100.0%,高于非IBD儿童的54.2%,差异有统计学意义(P0.001)。结论血pANCA是诊断UC的特异性指标。血ACCA IgA、AMCA IgG、ASCA IgG和Ig A、抗cBir1-IgG对CD的诊断有一定特异性。FC增高可反映IBD病情的活动性,但不能作为IBD与非IBD鉴别诊断的依据。     

儿童重症化脓性脑膜炎CD3＋ CD8＋ T细胞与炎症指标、体液免疫的变化

目的：通过观察儿童重症化脓性脑膜炎早期血CD3＋CD8＋T细胞的变化,以及与炎症指标、体液免疫指标之间的关系,探讨其在儿童重症化脓性脑膜炎发生发展中的临床意义。方法回顾性分析中国医科大学附属盛京医院PICU 2014年8月1日至2015年12月31日收治的39例1个月~14岁的重症化脓性脑膜炎患儿,血CD3＋CD8＋T细胞计数正常或升高(≥190个/mm3)为A组( n＝22),降低(<190个/mm3)为B组(n＝17),分析患儿的一般资料、血液炎症指标、体液免疫、脑脊液改变在两组患儿中的分布和差异。结果17例(43.6％)患儿CD3＋CD8＋T细胞明显下降;所有4例死亡均为B组患儿;虽然没有统计学差异,但 B 组 Glasgow 昏迷评分<8分者比例(58.8％)高于 A 组(31.8％)。B组C-反应蛋白、降钙素原中位数(最小值-最大值)分别为251.0(26.2-417.0)mg/L、32.7(0.9-100.0)ng/L,远远高于A组的106.5(12.0-458.0)mg/L、4.5(0.1-200.0)ng/L,差异有统计学意义(P<0.05);B组中6例(35.3％)外周血WBC<4×109/L,而 A组为1例(4.6％),中性粒细胞>80％的比例A组为7例(31.8％),而B组为12例(70.6％),两组比较差异有统计学意义(P<0.05)。 B组14例(82.3％)患儿脑脊液中糖含量<2.0 mmol/L,高于A组[11例(50.0％)],两组比较差异有统计学意义(P<0.05)。结论儿童重症化脓性脑膜炎CD3＋CD8＋T细胞可能受到抑制,其与患儿脑功能损伤程度、炎症反应以及预后相关。可能对指导临床免疫制剂的应用有一定帮助。     

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 132 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation Kabuki syndrome seems to be more appropriate than Kabuki make-up syndrome.     

Surgical treatment of chronic inflammatory bowel disease in children

Surgery for chronic inflammatory bowel disease (IBD) is increasingly often necessary in children. This study aimed at assessing the results of these operations in order to facilitate adequate preoperative counseling. We reviewed patients treated from 1992 to 2009. The operations, complications and functional outcome were recorded. For those with preserved rectal defecation, continence (Koivusalo score) and quality of life (standardized questionnaire) were assessed in the long term. Eighty five of 192 patients had Crohn disease (CD), 107 of 192 had ulcerative colitis (UC), and 3 of 192 had indeterminate colitis (IC). 12 of 85 CD patients (15%) aged 14 (12–19) years required 13 resections, 1 stricturoplasty, 1 transplantation and 6 other operations including 3 permanent enterostomies for anorectal involvement. Removal of the involved bowel led to significant improvement of nutritional status, growth and quality of life. The transplanted patient had a striking recovery but eventually died 1 year later of unrelated complications. 29 of 107 UC patients (26%) aged 11 (2–15) years required 87 operations. Nine had emergency colectomy for toxic megacolon (3, one death) or severe hemorrhage (6). 28 had restorative proctocolectomy and ileoanostomy (RPCIA) without (16) or with (12) J-pouch under protective ileostomy. Complications were frequent (40%). Permanent ileostomy was required in five children (17%). Twelve months postoperatively, RPCIA patients had 6.5 (2–13) stools/day; all were continent during daytime, and 25% have nocturnal leaks. Mean Koivusalo score (5–12) was 8.8 ± 2. Quality of life was good in all. All attended normal school and 7 the university, 4 work and 60% of those older than 18 years have sexual partners. Three of 107 children treated as UC with RPCIA had ultimately IC (3%) and were permanently diverted. The nature of IBD involves frustrating surgery. However, it may change life for CD patients and provide a reasonably good quality of life for UC after the first year. Pediatric surgeons should be able to provide adequate preoperative counseling to patients and families.     

Bridging the gap between adult and paediatric outcomes in HIV-1 vertically infected children: a single-centre comparison with adult data

Prognosis of HIV-1 infection dramatically improved during the last decade. Meanwhile, treatment-induced virological success has always been different in adult and children patients.
Aim:  To compare 10 years of follow up in HIV-1 vertically infected children and adult patients.
Methods:  Monocentric retrospective longitudinal analysis of vertically HIV-1-infected children and adult patients followed in the Nice University Hospital between 1999 and 2008. Immunological, virological and antiretroviral treatment data were recorded.
Results:  Forty children and 1752 adult patients were included. Between 1996 and 2008, the percentage of children receiving HAART increased from 3.2% to 91%. Mean CD4% in the paediatric group remained stable between 29 ± 8.1% in 1998 and 30 ± 9.4% in 2008. Mean adult CD4-cell count significantly increased from 410 in 1998 to 556 cells/mL in 2008. Logistic regression analysis showed that the children-to-adult difference for indetectability (HIV PCR-RNA below 400 copies/mL) was significant (p < 0.0001) with an odds ratio of 0.61 (CI^95th: 0.52–0.72). Year-to-patient interaction was also significant with a decreasing divergence over time (p: 0.038).
Conclusion:  Nowadays as in adult patients, the control of HIV-1 replication is achieved in nearly eight of 10 children and the percentage of patients with severe immunodeficiency dramatically decreased compared with the mid 1990s.     

Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry

OBJECTIVE: To determine the characteristics of inflammatory bowel disease (IBD) in young patients. STUDY DESIGN: Uniform data were collected from a cohort of patients with IBD who were enrolled from January 2000 to November 2002 at six pediatric centers (Pediatric IBD Consortium). RESULTS: Of 1370 children in the registry, the mean age at IBD diagnosis was 10.3 +/- 4.4 years; 54% were male, and 86% were white. Diagnosis was confirmed in 87 (6.1%) under 3 years of age, 211 (15.4%) before 6 years, 654 (47.7%) at 6 to 12 years, and 505 (36.9%) at 13 to 17 years. More than 63% of children younger than 8 years of age had isolated colonic disease, whether Crohn disease, ulcerative colitis (UC), or indeterminate colitis. Conversely, only 35% of those 8 years of age or older had isolated colonic disease ( P < .0001). Overall, 29% had one or more family members with IBD. The subgroup of children younger than 3 years of age with UC had the highest prevalence of first-degree relatives with IBD (44%). CONCLUSIONS: This demographically diverse pediatric IBD cohort revealed age-related variation in the distribution of IBD phenotype, with a high prevalence of isolated colonic disease in young children. Positive family history was especially common in young patients with UC.     

Outcome of childhood ulcerative colitis at 2 years

AIM: Ulcerative Colitis (UC) has an incidence of 1.4 per 100,000 in childhood. There is a paucity of data regarding outcome particularly with the increased use of early immunosuppression. This study reviews outcome at 2 years in a cohort with UC referred to a single centre. METHOD: Patients were recruited on the basis of a diagnosis made between 2000 and 2003 as a consecutive cohort. All had UC according to standard clinicopathological criteria. Children with indeterminate colitis were excluded. Follow-up data was collected at 2 years by case notes review. RESULTS: Thirty-two children are reported. The median age at diagnosis was 11 years (range 2-16). All were treated with corticosteroids and 5-ASA derivatives at diagnosis. The majority of patients (94%, 30/32) received more than one course of steroids. By 2 years azathioprine use was high with 75% (24/32) of patients on treatment for steroid-dependent disease. There were 6 extra-intestinal manifestations and 8 disease related complications occurring in 12 patients (38%). The colectomy rate was 9% (3/32) for unresponsive disease. CONCLUSION: There is a high need for Azathioprine in childhood UC. Colectomy rate at 2 years was around 10%. Extra-intestinal manifestations and disease related complications are common.     

Inflammatory bowel disease in children: a pediatrician's perspective

Crohn's disease (CD) and ulcerative colitis (UC) are common and heterogeneous chronic inflammatory bowel disorders of childhood that account for up to 25% of all patients with inflammatory bowel disease (IBD). In CD, the familial pattern of disease concordance would suggest that genetics contribute to disease etiology. Children are more likely to have proximal small bowel disease complicated by stricture formation, fistulization and the need for surgical intervention. The predisposition for small bowel disease has been associated with mutations of the nucleotide oligomerization domain 2 (NOD2)/Caspase activation and recruitment domain 15 (CARD15) gene on chromosome 16 in 1/3 of patients with CD. Homozygous patients also show an early age at disease onset and a relatively high relative risk for isolated stricturing distal ileal disease. The potential clinical role for NOD2 testing in either the diagnosis or the therapeutic management of patients with CD has yet to be determined. The precise age of onset of CD and UC can be difficult in children. Subclinical phases of disease can be identified through a decrease in weight and height velocity, and a delay in pubertal development. However, a confident distinction between CD and UC also remains a taxonomic dilemma in 25% of pediatric patients with IBD, despite recent technological advances in diagnostic techniques, including gadolinium enhanced magnetic resonance imaging (MRI) and capsule endoscopy, and serological testing. The early introduction of immunomodulators, including azathioprine and 6-mercaptopurine have proven efficacy in maintaining long-term remission without concurrent corticosteroids. The pharmacogenomic of 6-MP metabolism has been shown to be useful in predicting susceptibility to antimetabolite induced toxicity, and possibly allowing physician's to individualize drug therapy to improve clinical response. Novel treatment strategies, including infliximab are being developed in Pediatrics with the aim at improving overall treatment efficacy and potentially avoid surgery.