| 41. |
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| 42. |
- Wekell, Per, et al.
(författare)
-
Periodic Fever Syndrome and Developmental Delay : Chapter 98
- 2019
-
Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Nima Rezaei (red.). - Cham : Springer Nature Switzerland AG. - 9783030212612 ; , s. 515-519
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- The key to diagnosis of mevalonate kinase deficiency, hyper-IgD syndrome (MKD/HIDS) is recurrent fever attacks of 4–6 days, associated with aphthous stomatitis, enlargement of lymph nodes, splenomegaly, abdominal pain, diarrhea, and rash MKD is a rare autosomal recessive disease caused by mutations in the MVK gene leading to reduced mevalonate kinase activity Extremely low MVK activity leads to mevalonic aciduria (complete MKD or MVA) associated with developmental delay, progressive ataxia and decreased life expectancy in addition to febrile attacks Treatment depends on the severity of the condition and includes: on demand treatment with glucocorticoids on demand or continuous treatment with IL-1 blockade allogeneic hematopoietic stem cell transplantation in mevalonic aciduria In partial MKD/HIDS, episodes often decrease in severity with age
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| 43. |
- Wekell, Per, et al.
(författare)
-
Prolonged Fever and Swollen Joints : Chapter 106
- 2019
-
Ingår i: Pediatric Immunology A Case-Based Collection with MCQs. Nima Rezaei (red.). - Cham : Springer Nature Switzerland AG. - 9783030212629 ; , s. 565-573
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- The diagnosis of systemic onset juvenile idiopathic arthritis (SoJIA) is based on clinical features including: prolonged quotidian fever, erythematous rash during fever spikes, generalized lymph node enlargement, arthralgia/arthritis and splenomegaly Glucocorticoids are the first-line treatment of SoJIA Approximately 10% of patients with SoJIA develop macrophage activation syndrome (MAS) associated with significant mortality The main complication of SoJIA is MAS characterised by: Clinical features such as continuous fever, petechial rash, hepatosplenomegaly and compromised circulation, laboratory findings such as cytopenias in two or more cell lines, increased ferritin, liver transaminases, lactate dehydrogenase and triglycerides There are no evidence-based treatment guidelines for MAS in SoJIA. Early expert advice should be sought. High-dose intravenous methylprednisolone is recommended as a first-line treatment.
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| 44. |
- Wekell, Per, et al.
(författare)
-
Recurrent Chest Pain : Chapter 112
- 2019
-
Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Nima Rezaei (red.). - Cham : Springer Nature Switzerland AG. - 9783030212629 ; , s. 611-616
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Recurrent pericarditis is diagnosed in a patient with acute pericarditis relapse after a symptom-free interval of 4–6 weeks or longer First-line treatment for recurrent pericarditis is cycloxygenase-inhibitors and colchicine Corticosteroid should be avoided in children due to their adverse side-effects, increased risk of relapse and effects on growth Long-term prognosis for children with recurrent pericarditis is generally good
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| 45. |
- Wekell, Per, et al.
(författare)
-
Recurrent Febrile Episodes and Abdominal Pain : Chapter 96
- 2019
-
Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Nima Rezaei (red.). - Cham : Springer Nature Switzerland AG. - 9783030212612 ; , s. 501-510
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Familial Mediterranean fever (FMF) should be suspected in children with recurrent, fever attacks of short duration, 6 hours-3 days, associated with peritonitis, pleuritis and/or arthritis FMF is most common in populations with eastern Mediterranean origin FMF is considered an autosomal recessive disease, yet biallelic mutations are not always identified Colchicine is the drug-of-choice that effectively prevents FMF attacks and amyloidosis Secondary amyloidosis is the main long-term complication in untreated patients.
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| 46. |
- Wekell, Per, et al.
(författare)
-
Review of autoinflammatory diseases, with a special focus on periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome.
- 2016
-
Ingår i: Acta paediatrica (Oslo, Norway : 1992). - : Wiley. - 1651-2227 .- 0803-5253. ; 105:10, s. 1140-51
-
Forskningsöversikt (refereegranskat)abstract
- There have been remarkable developments in the field of autoinflammatory diseases over the last 20 years. Research has led to definitions of new conditions, increased understanding of disease mechanisms and specific treatment. The polygenic autoinflammatory condition of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is the most common autoinflammatory disorder among children in many parts of the world. The clinical features often include clockwork regularity of episodes, prompt responses to corticosteroids and therapeutic effects of tonsillectomy, but the disease mechanisms are largely unknown.
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| 47. |
- Wekell, Per, et al.
(författare)
-
Skeletal Pain in Knee and Clavicle : Chapter 107
- 2019
-
Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Nima Rezaei (red.). - Cham : Springer Nature Switzerland AG. - 9783030212629 ; , s. 575-581
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Chronic non-bacterial osteomyelitis (CNO) or chronic recurrent multifocal osteomyelitis (CRMO) is characterized by sterile bone inflammation commonly located in the metaphysis of long bones, the clavicle, spine, and the pelvisBone lesions can be both symptomatic and asymptomatic CNO/CRMO is a diagnosis of exclusion and a bone biopsy is often needed to confirm the diagnosis and exclude other disorders Empirical treatment options include; Cox-inhibitors (NSAIDs), glucocorticoids, anti-TNF agents and bisphosphonates
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| 48. |
- Wekell, Per, et al.
(författare)
-
Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases.
- 2017
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Ingår i: Frontiers in immunology. - : Frontiers Media SA. - 1664-3224. ; 8
-
Tidskriftsartikel (refereegranskat)abstract
- Autoinflammatory disease was introduced as a concept in 1999, demarcating an entirely new group of diseases in clinical, immunological, and conceptual terms. During recent years, the preconditions for the definition of autoinflammatory conditions have changed. This includes the recent discovery of a number of monogenic autoinflammatory conditions with complex phenotypes that combine autoinflammation with defects of the adaptive and/or innate immune system, resulting in the occurrence of infection, autoimmunity, and/or uncontrolled hyperinflammation in addition to autoinflammation. Further, there are strong indications that classical IL-1-driven autoinflammatory diseases are associated with activation of adaptive immunity. As suggested by this development, we are of the opinion that an all-encompassing definition of autoinflammatory diseases should regard autoinflammatory conditions and innate dysregulation as inseparable and integral parts of the immune system as a whole. Hence, in this article, we try to advance the conceptual understanding of autoinflammatory disease by, proposing a modification of the definition by Daniel Kastner et al., which allows for a congruent and precise description of conditions that expand the immunological spectrum of autoinflammatory disease.
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