ABSTRACT
BACKGROUND: The purpose of the study was to collect data on granulocyte-monocyte adsorptive apheresis (GMA) for the treatment of corticosteroid-dependent (SD) or corticosteroid-resistant (SR) inflammatory bowel disease (IBD) in children from 3 Nordic countries to evaluate its efficacy and safety and to assess practical issues. METHODS: Retrospective data on 37 children treated with GMA were collected. In all, 22 children had ulcerative colitis (UC), 13 Crohn's disease (CD), and 2 had indeterminate colitis (IC). Their mean age was 13.2 years, range 5-17 years, and mean duration of disease was 2.4 years, range 1 month to 6 years. Indication for treatment in the UC group was SD in 11 cases, SR in 6 cases, and other reasons in 5 cases. The corresponding numbers in the CD group were SD in 8 cases, SR in 2 cases, and other reasons in 3 cases. In the IC group, 1 had SD and 1 was refractory to steroids, azathioprine, and infliximab. Efficacy was evaluated by severity indices: the Pediatric Ulcerative Colitis Activity Index (PUCAI) and the Pediatric Crohn's Disease Activity Index (PCDAI) and tapering of corticosteroids. RESULTS: PUCAI and PCDAI decreased significantly in both groups after 3 months (P = 0.0007, P = 0.025). The dosage of corticosteroid was significantly reduced in the UC group by the end of GMA (P = 0.004) and this response continued after 3 months. Relapse was seen in 2 patients with UC and 3 patients with CD after 3 months follow-up. CONCLUSIONS: GMA seems to be an effective and safe treatment in 81% of the SD or SR pediatric IBD patients, especially in those with UC.
Subject(s)
Blood Component Removal/methods , Colitis, Ulcerative/immunology , Colitis, Ulcerative/therapy , Crohn Disease/immunology , Crohn Disease/therapy , Adolescent , Adrenal Cortex Hormones/therapeutic use , Blood Component Removal/adverse effects , Child , Colitis, Ulcerative/drug therapy , Combined Modality Therapy , Crohn Disease/drug therapy , Drug Resistance , Female , Follow-Up Studies , Granulocytes , Humans , Immunosuppressive Agents/therapeutic use , Male , Monocytes , Patient Compliance , Recurrence , Remission Induction , Retrospective StudiesSubject(s)
Cotinine/adverse effects , Maternal Exposure/adverse effects , Smoking/adverse effects , Tremor/chemically induced , Adult , Cotinine/blood , Female , Humans , Infant, Newborn , Male , PregnancyABSTRACT
OBJECTIVE: To study patients with autosomal recessive pseudohypoaldosteronism type 1 and to relate pulmonary disease to gene mutations of the epithelial sodium channel (ENaC). STUDY DESIGN: Clinical and laboratory data were collected from 4 Swedish patients with pseudohypoaldosteronism type 1. The genes for ENaC and cystic fibrosis transmembrane conductance regulator were analyzed for mutations with methods including DNA sequencing. RESULTS: Three novel mutations were found in the alpha-gene of ENaC, 2 frameshifts (1449delC and 729delA) and 1 missense mutation resulting in the substitution of leucine for serine 562 in the alpha-chain (S562L). The 1449delC mutation was found in all patients in either homozygous or heterozygous form and seems to be the predominant cause of pseudohypoaldosteronism in Sweden. The allele coding for S562L also contained a transition converting tryptophan 493 to arginine (W493R), which seems to be a rare polymorphism. All patients had pulmonary symptoms to various degrees. The bacterial findings resembled, to some extent, those in cystic fibrosis, but development of chronic lung disease and progressive decline in lung function were not observed. CONCLUSIONS: Genetic deficiencies of the alpha subunit of the ENaC are associated with prominent lung symptoms, which are, however, clearly different from those in cystic fibrosis.
Subject(s)
Lung Diseases/genetics , Pseudohypoaldosteronism/genetics , Sodium Channels/deficiency , Child, Preschool , Epithelium , Female , Humans , Lung Diseases/etiology , Mutation , Polymorphism, Single-Stranded Conformational , Pseudohypoaldosteronism/complications , Sequence Analysis, DNA , Sodium Channels/geneticsABSTRACT
We report a child with multiple target organ pseudohypoaldosteronism type 1 with frequent recurrent pulmonary infections caused by Pseudomonas aeruginosa and Pasteurella multocida and high levels of chloride in sweat, urine and nasal secretion. Repetitive faecal chymotrypsin samples have all shown pathological values in spite of no other sign of exocrine pancreas dysfunction. The similarities with cystic fibrosis and the importance of the salt content in bronchial fluid are discussed.
