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- van Schaarenburg, Rosanne A., et al.
(författare)
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Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency
- 2015
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Ingår i: Journal of Autoimmunity. - : Elsevier BV. - 0896-8411 .- 1095-9157. ; 62, s. 39-44
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease.Methods: We performed an international survey, of clinicians treating C1q deficient patients. A high response rate of >70% of the contacted clinicians yielded information on 45 patients with C1q deficiency of which 25 are published.Results: Follow-up data of 45 patients from 31 families was obtained for a median of 11 years after diagnosis. Of these patients 36 (80%) suffer from SLE, of which 16 suffer from SLE and infections, 5 (11%) suffer from infections only and 4 (9%) have no symptoms. In total 9 (20%) of the C1q deficient individuals had died. All except for one died before the age of 20 years. Estimated survival times suggest 20% case-fatality before the age of 20, and at least 50% of patients are expected to reach their middle ages.Conclusion: Here we report the largest phenotypic data set on C1q deficiency to date, revealing high variance; with high mortality but also a subset of patients with an excellent prognosis. Management of C1q deficiency requires a personalized approach.
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| 2. |
- Iversen, Maura D., et al.
(författare)
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Self-rated walking disability and dynamic ankle joint stiffness in children and adolescents with Juvenile Idiopathic Arthritis receiving intraarticular corticosteroid joint injections of the foot
- 2019
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Ingår i: Gait & Posture. - : ELSEVIER IRELAND LTD. - 0966-6362 .- 1879-2219. ; 67, s. 257-261
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Tidskriftsartikel (refereegranskat)abstract
- Background: Children and adolescents with Juvenile Idiopathic Arthritis (JIA) exhibit deviations in ankle dynamic joint stiffness (DJS, or moment-angle relationship) compared to healthy peers, but the relationship between ankle DJS and self-reported walking impairments has not been studied. This secondary analysis aimed to investigate the relationship between ankle DJS and self-reported walking disability in juveniles with JIA, and to determine whether intraarticular corticosteroid foot injections (IACI) were associated with long term changes in ankle DJS. Research questions: Is ankle DJS altered in children with JIA reporting walking difficulties compared to children with JIA reporting no walking difficulties? Are IACIs associated with persistent alterations in ankle DJS? Methods: Gait dynamics (DJS), foot pain, and foot-related disability were assessed in 33 children with JIA before intraarticular corticoid foot injection (IACI), and three months after IACI. Using self-reported walking capacity scores, children were classified as either having no walking difficulties (ND) or having walking difficulties (WD). Inferential statistics were used to compare demographics, pain, impairment scores, and ankle DJS between the groups. Results: Before treatment, in the WD group, ankle DJS was significantly decreased both in the early rising phase (ERP = 0.03 +/- 0.02 vs. 0.05 +/- 0.02 Nm(kg*deg)(-1)) and late rising phase (LRP = 0.11 +0.06 vs. 0.24+0.22 Nm (kg*deg)(-1)) compared to the ND group. At three months, the ERP was still significantly decreased in the WD group (ERP = 0.03 +/- 0.01 vs. 0.05+0.03 Nm(kg*deg)(-1)). Significance: Among children and adolescents with JIA who reported walking difficulties prior to IACIs, alterations in DJS in early stance phase (decreased ERP) remained three months after IACI suggesting persistent gait adaptations, possibly related to pain. Pre-treatment gait analysis may aid in identifying children who will not have long term benefit from IACIs in terms of improved gait, and therefore, may be informed and have the choice to be spared the risk of side effects associated with this treatment.
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| 4. |
- Olsson, Richard F., et al.
(författare)
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Allogeneic Hematopoietic Stem Cell Transplantation in the Treatment of Human C1q Deficiency : The Karolinska Experience
- 2016
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Ingår i: Transplantation. - 0041-1337 .- 1534-6080. ; 100:6, s. 1356-1362
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Tidskriftsartikel (refereegranskat)abstract
- Background. Human C1q deficiency is associated with systemic lupus erythematosus (SLE) and increased susceptibility to severe bacterial infections. These patients require extensive medical therapy and some develop treatment-resistant disease. Because C1q is produced by monocytes, it has been speculated that allogeneic hematopoietic stem cell transplantation (allo-HSCT) may cure this disorder. Methods. We have so far treated 5 patients with C1q deficiency. In 3 cases, SLE symptoms remained relatively mild after the start of medical therapy, but 2 patients developed treatment-resistant SLE, and we decided to pursue treatment with allo-HSCT. For this purpose, we chose a conditioning regimen composed of treosulfan (14 g/m(2)) and fludarabine (30 mg/m(2)) started on day -6 and given for 3 and 5 consecutive days, respectively. Thymoglobulin was given at a cumulative dose of 8 mg/ kg, and graft-versus-host disease prophylaxis was composed of cyclosporine and methotrexate. Results. A 9-year-old boy and a 12-year-old girl with refractory SLE restored C1q production after allo-HSCT. This resulted in normal functional properties of the classical complement pathway followed by reduced severity of SLE symptoms. The boy developed posttransplant lymphoproliferative disease, which resolved after treatment with rituximab and donor lymphocyte infusion. Unfortunately, donor lymphocyte infusion induced severe cortisone-resistant gastrointestinal graft-versus-host disease, and the patient died from multiple organ failure 4 months after transplantation. The girl is doing well 33 months after transplantation, and clinically, all signs of SLE have resolved. Conclusions. Allo-HSCT can cure SLE in human C1q deficiency and should be considered early in subjects resistant to medical therapy.
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