Abstract:
:Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less severe phenotype and more common form, and mevalonic aciduria (MVA), a more severe phenotype and rare form. MKD is characterized by recurrent febrile attacks that are frequently accompanied by lymphadenopathy, gastrointestinal symptoms, arthralgia, myalgia, skin rash, and aphthous ulcers. Patients with MVA also have intrauterine growth retardation, congenital defects (cataracts, shortened limbs, and dysmorphic craniofacial features), neurological disease, and failure to thrive. Mean age at onset of symptoms is within the first year of life. There is a delay by several years between symptom onset and diagnosis, which is in part attributable to the initial misdiagnosis due to the rarity and nonspecific clinical manifestations of disease. The frequency of recurrent febrile attacks is highest in childhood and gradually decreases after adolescence. MKD is associated with rare long-term complications such as type AA amyloidosis, joint contractures, abdominal adhesions, renal angiomyolipoma, and severe pneumococcal infections. Frequent febrile attacks significantly impair several aspects of patients' and caregivers' quality of life, with an adverse impact on patients' daily activities, education, and employment. Lifespan is generally normal for HIDS whereas MVA can be fatal in early childhood.
journal_name
Pediatr Rheumatol Online Jjournal_title
Pediatric rheumatology online journalauthors
Zhang Sdoi
10.1186/s12969-016-0091-7subject
Has Abstractpub_date
2016-05-04 00:00:00pages
30issue
1issn
1546-0096pii
10.1186/s12969-016-0091-7journal_volume
14pub_type
杂志文章,评审abstract:BACKGROUND:There are controversies regarding the accuracy of the tuberculin skin test (TST) and methods based on the production of interferon gamma by sensitized T cells for the diagnosis of latent tuberculosis infection (LTBI) in pediatrics and immunosuppressed patients. Our objectives are to study TST and ELISPOT/T. ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-12-17
更新日期:2014-05-22 00:00:00
abstract:BACKGROUND:Bisphosphonates are recommended for use as first-line therapy for the prevention and treatment of glucocorticoid-induced osteoporosis in adults. However, the appropriate usage of bisphosphonates for the prevention or treatment of glucocorticoid-induced osteoporosis in children remains unclear. METHODS:We pe...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0258-5
更新日期:2018-06-18 00:00:00
abstract:PURPOSE:We investigated the etiology of acute hepatitis in three children with systemic Juvenile Idiopathic Arthritis (sJIA) taking Interleukin-1 receptor antagonist (IL1RA). METHODS:Laboratory and clinical data for three children with sJIA diagnosed at ages 13 months to 8 years who developed acute hepatitis during tr...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-7-21
更新日期:2009-12-22 00:00:00
abstract:OBJECTIVES:To examine the prescribing habits of NSAIDs among pediatric medical and surgical practitioners, and to examine concerns and barriers to their use. METHODS:A sample of 1289 pediatricians, pediatric rheumatologists, sports medicine physicians, pediatric surgeons and pediatric orthopedic surgeons in the United...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-8-7
更新日期:2010-02-04 00:00:00
abstract::On March 11th, 2020 the World Health Organization declared COVID-19 a global pandemic. The infection, transmitted by 2019 novel coronavirus (2019-nCov), was first discovered in December 2019, in Wuhan, Hubei Province, and then rapidly spread worldwide. Italy was early and severely involved, with a critical spread of t...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-020-00422-z
更新日期:2020-04-22 00:00:00
abstract:BACKGROUND:To develop and test the feasibility and initial effectiveness of the Treatment and Education Approach for Childhood-onset Lupus (TEACH) protocol, a 6-session cognitive behavioral therapy (CBT) intervention for adolescents and young adults (AYA) with childhood-onset systemic lupus erythematosus (cSLE). METHO...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0307-8
更新日期:2019-02-18 00:00:00
abstract:BACKGROUND:Juvenile Idiopathic Arthritis (JIA) is the most common cause of non-infectious joint inflammation in children. Synovial inflammation results in pain, swelling and stiffness. Animal and adult human studies indicate that localized joint-associated inflammation may produce generalized changes in pain sensitivit...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
doi:10.1186/1546-0096-12-39
更新日期:2014-09-06 00:00:00
abstract:BACKGROUND:Diagnosis of Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is currently based on the modified Marshall's criteria, but no validated evidence based classification criteria for PFAPA has been established so far. METHODS:A multistep process, based on the Delphi and Nom...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0277-2
更新日期:2018-09-21 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is an acute febrile systemic vasculitis that affects small and medium blood vessels. Intensified treatments for the most severely affected patients have been proposed recently, and the early identification of KD patients at high risk for coronary artery aneurysms (CAA) is crucial. Howev...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0264-7
更新日期:2018-07-18 00:00:00
abstract:BACKGROUND:Deficiency of interleukin-36 receptor antagonist (DITRA) is a life threatening monogenic autoinflammatory disease caused by loss of function mutations in the IL36RN gene. Affected patients develop recurrent episodes of generalized pustular psoriasis (GPP) with systemic inflammation and fever. We here review ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-019-0338-1
更新日期:2019-07-08 00:00:00
abstract:: There is a debate whether post-streptococcal reactive arthritis (PSRA) is a separate entity or a condition on the spectrum of acute rheumatic fever (ARF). We believe that PSRA is a distinct entity and in this paper we review the substantial differences between PSRA and ARF. We show how the demographic, clinical, gene...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-9-32
更新日期:2011-10-20 00:00:00
abstract:BACKGROUND:Children are commonly referred to a pediatric rheumatology center for the laboratory finding of an Anti-nuclear antibody (ANA) of undetermined significance. Previous studies regarding adult rheumatology patients have supported an association between ANA and anti-thyroid antibodies, with the prevalence of thy...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-8-15
更新日期:2010-05-05 00:00:00
abstract:BACKGROUND:Transition guidelines and recommendations for developing countries are limited and best transition practices in young patients with chronic medical conditions have been poorly examined. This study evaluates transition practices from pediatric to adult rheumatology care in Brazil. METHODS:Practicing pediatri...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0176-y
更新日期:2017-05-30 00:00:00
abstract::In 2018, an international Task Force formulated recommendations for treating Juvenile Idiopathic Arthritis (JIA) to target. The Task Force has not yet resolved three issues. The first issue is the lack of a single "best" target. The Task Force decided not to recommend the use of a specific instrument to assess inactiv...
journal_title:Pediatric rheumatology online journal
pub_type: 信件
doi:10.1186/s12969-020-00428-7
更新日期:2020-04-16 00:00:00
abstract:BACKGROUND:Relapsing periodic arthritis is a general term used for a group of diseases with recurring and periodic nature, in which the joints are intermittently involved. The aim of this study is to evaluation of the possible relationship between MEFV gene mutations in intermittent arthritis of children which has recu...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0329-2
更新日期:2019-06-06 00:00:00
abstract:BACKGROUND:Patient recruitment can be very challenging in paediatric studies, especially in relatively uncommon conditions, such as juvenile idiopathic arthritis (JIA). However, involving children and young people (CYP) in the design of such trials could promise a more rapid trajectory towards making evidence-based tre...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0293-2
更新日期:2018-12-04 00:00:00
abstract:BACKGROUND:JIA-associated uveitis (JIAU) is a serious, sight-threatening disease with significant long-term complications and risk of blindness, even with improved contemporary treatments. The MIWGUC was set up in order to propose specific JIAU activity and response items and to validate their applicability for clinica...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0345-2
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:Recently preliminary ultrasonography (US) definitions, in B mode, for normal components of pediatric joints have been developed by the OMERACT US group. The aim of the current study was to include Doppler findings in the evaluation and definition of normal joint features that can be visualized in healthy chi...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0240-2
更新日期:2018-04-10 00:00:00
abstract::Following publication of the original article [1], we have been notified that the colour representation of the graph is not correct in Figure 6 legend. ...
journal_title:Pediatric rheumatology online journal
pub_type: 已发布勘误
doi:10.1186/s12969-020-0405-7
更新日期:2020-02-18 00:00:00
abstract:BACKGROUND:Juvenile idiopathic arthritis (JIA) is an autoimmune disease characterized by persistent chronic arthritis. Disease risk is believed to be influenced by both genetic and environmental factors. It is well established that the PTPN22 single nucleotide polymorphism (SNP) rs2476601 is associated with JIA suscept...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
doi:10.1186/s12969-016-0087-3
更新日期:2016-04-23 00:00:00
abstract:BACKGROUND:Paediatric rheumatology service in Sub-Sahara African is virtually not available as there is a shortage of paediatric rheumatologists and other rheumatology health professionals. We aim to describe the clinical spectrum and the frequencies of paediatric rheumatic diseases (PRDs) in Lagos State University Tea...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0139-3
更新日期:2017-01-31 00:00:00
abstract:BACKGROUND:The prediction of resistance to intravenous immunoglobulins (IVIG) is currently still one of the main research areas in Kawasaki disease (KD). Several studies have reported on the use of N-terminal pro-brain natriuretic peptide (NT-ProBNP) to this end. However, considering the age-dependency of NT-ProBNP lev...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0368-8
更新日期:2019-09-18 00:00:00
abstract:: Recent recognition of the markedly high prevalence of temporomandibular joint (TMJ) arthritis in children with juvenile idiopathic arthritis (JIA) coupled with the significant morbidity associated with TMJ damage has prompted increased interest in both the clinical and pathological aspects of TMJ arthritis. This revi...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-7-11
更新日期:2009-05-29 00:00:00
abstract:BACKGROUND:Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mutation positive FCL families ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00423-y
更新日期:2020-04-15 00:00:00
abstract:BACKGROUND:Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in childhood and a major cause of morbidity among children with pediatric rheumatic diseases. The management of JDM is very heterogeneous. The JDM working group of the Society for Pediatric Rheumatology (GKJR) aims to define consensus- a...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0257-6
更新日期:2018-06-25 00:00:00
abstract:BACKGROUND:An increased concentration of plasma homocysteine (Hcy) has toxic effects on vascular endothelium. This seems to be a risk factor of cardiovascular disease, premature stroke and venous thrombosis. The risk is higher in coincidence with other factors like chronic diseases and familiar hypercholesterolemia. Th...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-5-2
更新日期:2007-04-02 00:00:00
abstract:BACKGROUND:The usefulness of musculoskeletal ultrasonography (MSUS) in paediatric population is limited by lack of reference values. One of such parameters is hip joint capsule thickness, postulated as an early measure for synovitis. However, the joint capsule is hardly a distinguished structure from slit synovial cavi...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0136-6
更新日期:2017-01-31 00:00:00
abstract:UNLABELLED: BACKGROUND:As patients with juvenile idiopathic arthritis (JIA) progress into adulthood, long-term outcome is determined by disease activity, physical and psychosocial development. Decreased aerobic capacity may play a critical role in health-related outcomes in JIA, since it has been linked with cardiovas...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-10-25
更新日期:2012-08-20 00:00:00
abstract:BACKGROUND:Remission is the primary objective of treating juvenile idiopathic arthritis (JIA). It is still debatable whether early intensive treatment is superior in terms of earlier achievement of remission. The aim of this study was to evaluate the effectiveness of early etanercept+methotrexate (ETA+MTX) combination ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00488-9
更新日期:2021-01-06 00:00:00
abstract:: Xanthomatous skin lesions and arthritis in children are not a common association. We present the case of a 3 year old girl who presented with xanthomatous lesions in the periungual region of both hands, around the nares and on her forehead, associated with significant arthritis that was clinically compatible with mul...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-7-15
更新日期:2009-10-08 00:00:00