Long term outcomes in children with trichohepatoenteric syndrome.

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usually leading to congenital diarrhea as part of a multisystem disease. Here, we report on the natural history of the disease for the largest UK cohort of patients with THES from 1996 to 2020. We systematically reviewed the clinical records and pathological specimens of patients diagnosed with THES managed in a single tertiary pediatric gastroenterology unit. Between 1996 and 2020, 13 patients (7 female and 6 male) were diagnosed with THES either by mutation analysis or by clinical phenotype. Two patients died from complications of infection. All patients received parenteral nutrition (PN) of which six patients were weaned off PN. All patients had gastrointestinal tract inflammation on endoscopy. Almost half of the cohort were diagnosed with monogenic inflammatory bowel disease (IBD) by the age of 11 years, confirmed by endoscopic and histological findings. Protracted diarrhea causing intestinal failure improves with time in all patients with THES, but monogenic IBD develops in later childhood that is refractory to conventional IBD treatments. Respiratory issues contribute to significant morbidity and mortality, and good respiratory care is crucial to prevent comorbidity.

The epidemiology of coeliac disease in South Wales: a 28-year perspective.

OBJECTIVES: The diagnosis of coeliac disease (CD) has increased in frequency, particularly since the accuracy of serological antibody testing has improved. Previous studies from South Wales have shown an increase in the frequency of diagnosis from 1983 to 2004 with a decrease in specific gastro-intestinal symptoms, as well as an increasing age at diagnosis. AIMS/METHODS: We aimed to determine whether the frequency of diagnosis, the age at presentation and the clinical presentation of CD have changed between 2005 and 2011 compared with previously published data from 1983 to 2004. We reviewed all patients with CD presenting to the South Wales' Regional Centre between 2005 and 2011 and compared the age and documented mode of presentation with previous data from the same area. RESULTS: 163 cases of CD were diagnosed between 2005 and 2011 (23 cases/year) with the median age at diagnosis increasing to 14 years (range 0.8-16 years) compared with 50 cases (8/year) between 1999 and 2004 (median age at diagnosis 8 years), 25 cases (2.5/year) between 1990 and 1998 and 11 cases (1.5/year) between 1983 and 1989. 41% presented with specific gastro-intestinal symptoms, 23% with non-gastro-intestinal features and 36% were asymptomatic and diagnosed after serological screening of high-risk groups. Compared with the most recent previous study from the same population, the percentage of patients presenting with gastro-intestinal symptoms remain similar (42% vs 41%) but patients diagnosed after targeted screening had increased from 26% to 36%. CONCLUSIONS: The frequency of diagnosis of CD in this defined population has continued to rise, with an increase in the median age at diagnosis, and over 50% of patients exhibited few or no symptoms.

Introduction of sodium pentosan polysulfate and avoidance of urethral catheterisation: improved outcomes in children with haemorrhagic cystitis post stem cell transplant/chemotherapy.

PURPOSE: Haemorrhagic cystitis (HC) is an uncommon but potentially devastating complication of chemotherapy and bone marrow transplantation in children. We aimed to test the hypothesis that early recognition, sodium pentosan polysulfate (SPP), and avoidance of urethral catheterisation improve outcomes in children with HC. METHODS: A retrospective case note review was performed of all patients treated for HC in our hospital from 2002 to 2010. A protocol for the management of HC was introduced in 2007 advocating early detection, use of SPP, and avoidance of urethral catheterisation. Data collected on each patient included primary condition, medications at onset, blood transfusions, duration of symptoms, catheter usage, and outcome. Statistical analysis was performed using the Mann-Whitney U test, and Fisher's Exact test as appropriate, P < .05 being significant. RESULTS: Five patients were treated using protocol with 5 historical controls. There was no significant difference between the ages of the group, diagnosis, and treatment at onset of HC. In the historical group, 4 of 5 died with HC, but all recovered in the protocol group (P < .05). Blood transfusion requirements were also significantly reduced after protocol introduction (P < .05). CONCLUSION: Early identification, avoidance of urethral catheterisation, and use of SPP significantly reduces blood transfusion requirements and mortality from HC.