Hepatic Glycogen Storage Diseases Toward One Global Collaborative Network

Abstract The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry. This report highlights dilemmas in dietary management, differences in monitoring strategies, and challenges with rare disease care, research, and patient participation.

Tacrolimus without or with the addition of conventional immunosuppressive treatment in juvenile autoimmune hepatitis.

AIM: To investigate tacrolimus (Tac)-based treatment in juvenile autoimmune hepatitis (AIH). Twenty patients (13 girls; age, 8-17 years; median, 13.25 years) with AIH were treated with two daily oral doses of Tac. Six of them had advanced liver disease and/or cirrhosis. METHODS: Drug concentrations in blood were measured regularly, and the target trough levels were 2.5-5 ng/mL. The patients were followed up for 1 year. Their clinical, biochemical, immunological and histological status was obtained at baseline and after 1 year. RESULTS: In three cases, Tac alone led to complete remission. In 14 cases, additional low doses of prednisolone or azathioprine were used for a short time to achieve remission. In two cases, the treatment was discontinued: in one because of therapeutic failure, in another because of a suspected but unverified adverse event. Ten patients reported headache and/or recurrent abdominal pain. Two patients developed inflammatory bowel disease. Renal function remained intact. CONCLUSION: Tac is a promising alternative first line of treatment for AIH. Although monotherapy with Tac is usually not sufficient to achieve complete remission, the prednisolone and azathioprine doses can be drastically reduced, and most of their side effects avoided.

Increased rectal nitric oxide in children with active inflammatory bowel disease.

BACKGROUND: Luminal nitric oxide increases in ulcerative colitis and Crohn disease. The authors have previously used a minimally invasive method to demonstrate increased luminal nitric oxide in ulcerative colitis and Crohn disease of the colon. The aim of the current study was to determine whether this method could be applied to identify inflammatory activity in ulcerative colitis and Crohn disease in children. METHODS: Thirty-six children (18 of whom had active disease) with inflammatory bowel disease localized to the colon were studied. The control group comprised 12 healthy children. To measure nitric oxide, a silicon catheter with an inflatable balloon was inserted into the rectum and inflated with 10 mL of nitric oxide-free air. After a 10-minute incubation time, the air was withdrawn and nitric oxide concentrations were immediately analyzed using a chemiluminescence technique. RESULTS: Children with active ulcerative colitis and Crohn disease of the colon had greatly increased luminal nitric oxide concentrations in the rectum (8,840 +/- 5,120 and 15,170 +/- 4,757 parts per billion [ppb], respectively) compared with controls (77 +/- 17 ppb) (P < 0.001). Children with nonactive ulcerative colitis or Crohn disease displayed low concentrations of rectal nitric oxide (356 +/- 110 and 188 +/- 55 ppb, respectively), which was not different from that of healthy controls. CONCLUSION: Rectal nitric oxide measurement is a feasible and useful method for monitoring disease activity in inflammatory bowel disease, especially in children.