BACKGROUND: Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease in a large cohort of GPA paediatric patients. Children with age at diagnosis ≤ 18 years, fulfilling the EULAR/PRINTO/PRES GPA/WG classification criteria were extracted from the PRINTO vasculitis database. The clinical signs/symptoms and laboratory features were analysed before or at the time of diagnosis and at least 3 months thereafter and compared with other paediatric and adult case series (>50 patients) derived from the literature. FINDINGS: The 56 children with GPA/WG were predominantly females (68%) and Caucasians (82%) with a median age at disease onset of 11.7 years, and a median delay in diagnosis of 4.2 months. The most frequent organ systems involved before/at the time of diagnosis were ears, nose, throat (91%), constitutional (malaise, fever, weight loss) (89%), respiratory (79%), mucosa and skin (64%), musculoskeletal (59%), and eye (35%), 67% were ANCA-PR3 positive, while haematuria/proteinuria was present in > 50% of the children. In adult series, the frequency of female involvement ranged from 29% to 50% with lower frequencies of constitutional (fever, weight loss), ears, nose, throat (oral/nasal ulceration, otitis/aural discharge), respiratory (tracheal/endobronchial stenosis/obstruction), laboratory involvement and higher frequency of conductive hearing loss than in this paediatric series. CONCLUSIONS: Paediatric patients compared to adults with GPA/WG have similar pattern of clinical manifestations but different frequencies of organ involvement.
- Publikační typ
- časopisecké články MeSH
OBJECTIVE: A broad spectrum of endocrine and biochemical disturbances was observed in patients with anorexia nervosa. In addition, metabolic changes may concern the efficiency of mitochondrial energy generating system. In our study we analyzed the activities of respiratory chain complexes in females with anorexia nervosa. METHOD: The activities of respiratory chain complexes I, II, IV, I + III, and citrate synthase serving as the control enzyme were measured spectrophotometrically in isolated platelets in 36 females with anorexia nervosa (BMI 15 +/- 1.7) at the age 18-35 years and in 37 age related female controls (BMI 21 +/- 2.2). RESULTS: In females with anorexia nervosa, the activities of respiratory chain complexes I and II in isolated platelets were significantly higher in comparison with controls. No differences were found in the activities of complexes IV and I + III and citrate synthase. CONCLUSION: Our results suggest higher efficiency of some respiratory chain complexes in platelets in females with anorexia nervosa. (c) 2007 by Wiley Periodicals, Inc.
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis, and molecular bases of the COX deficiency. Clinical symptoms including failure to thrive, encephalopathy, hypotony, Leigh syndrome, cardiac involvement, and hepatopathy appeared in most patients early after birth or in early childhood. Two thirds of all children died. Biochemical examination revealed an isolated COX deficiency in 101 children and COX deficiency combined with disturbances of other respiratory chain complexes in 79 children. Blood and cerebrospinal fluid lactate increased in 85% and 81% of examined cases, respectively. Pathogenic mutations in mitochondrial or nuclear DNA were established in 75 patients. Mutations in surfeit locus protein 1 gene (SURF1) were found in 47 children with Leigh syndrome; 2bp deletion 845-846delCT was found in 89% of independent alleles. Mutations in a mitochondrial copper-binding protein (SCO2) gene were found in nine children with encephalomyopathy and/or cardiomyopathy; all of them were homozygotes or heterozygotes for 1541G>A mutation. Different mitochondrial DNA (mtDNA) deletion or depletion were found in nine children, mtDNA mutation 3243A>G in six, mtDNA mutation 8363G>A in two children with Leigh syndrome and mtDNA mutations 8344A>G, and 9205-9206delTA in one child each. COX deficiency represents a heterogeneous group of diseases with unfavorable prognosis. Marked prevalence of two nuclear DNA mutations (845-846delCT in the SURF1 gene and 1541G>A in the SCO2 gene) associated with COX deficiency in a Slavonic population suggests the existence of regional differences in the genetic basis of COX deficiency.
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- deficit cytochrom-c-oxidázy diagnóza genetika mortalita MeSH
- dítě MeSH
- financování organizované MeSH
- kojenec MeSH
- lidé MeSH
- membránové proteiny MeSH
- mitochondriální DNA genetika MeSH
- mitochondriální proteiny MeSH
- mladiství MeSH
- mutace MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- prognóza MeSH
- proteiny genetika MeSH
- sekvenční delece MeSH
- transportní proteiny MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- multicentrická studie MeSH
- Geografické názvy
- Česká republika MeSH
- Polsko MeSH
- Slovenská republika MeSH
- MeSH
- 2D gelová elektroforéza MeSH
- deficit cytochrom-c-oxidázy * diagnóza genetika MeSH
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- molekulární biologie MeSH
- multicentrické studie jako téma MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- statistika jako téma MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- Publikační typ
- práce podpořená grantem MeSH
