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Pregled bibliografske jedinice broj: 1106290

Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome


Vukić, Vana; Smajo, Ana; Vidović, Mandica; Vukojević, Rudolf; Harjaček, Miroslav; Lamot, Lovro
Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome // BMC Pediatrics, 21 (2021), 1. doi:10.1186/s12887-021-02494-6 (međunarodna recenzija, članak, ostalo)


CROSBI ID: 1106290 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome

Autori
Vukić, Vana ; Smajo, Ana ; Vidović, Mandica ; Vukojević, Rudolf ; Harjaček, Miroslav ; Lamot, Lovro

Izvornik
BMC Pediatrics (1471-2431) 21 (2021), 1; 40, 0

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
Case report ; Juvenile idiopathic arthritis ; Leri Weill syndrome ; Madelung deformity ; Tofacitinib

Sažetak
Background: The last two decades brought new treatment options and high quality guidelines into the paediatric rheumatologic practice. Nevertheless, a number of patients still present a diagnostic and therapeutic challenge due to combination of vague symptoms and unresponsiveness to available treatment modalities. Case presentation: We report a case of sixteen years old girl suffering from polyarticular type of juvenile idiopathic arthritis refractory to multiple treatment options. She first presented at the age of 4 with swelling and contractures of both knees. Her symptoms were initially unresponsive to nonsteroidal anti-inflammatory drugs and progressed despite treatment with intraarticular and systemic glucocorticoids and methotrexate. Throughout the years, she received several biologics together with continuous administration of nonsteroidal anti-inflammatory drugs and disease modifying anti- rheumatic drugs as well as intraarticular and systemic glucocorticoids in disease flares. However, none of this options provided a permanent remission, so various other modalities, as well as other possible diagnoses were constantly being considered. Eventually she became dependent on a daily dose of systemic glucocorticoids. In 2018, the treatment with Janus kinase inhibitor tofacitinib was initiated, which led to gradual amelioration of musculoskeletal symptoms, improvement of inflammatory markers and overall well-being, as well as to the weaning of systemic glucocorticoids. As the swelling of the wrists subsided for the first time in many years, Madelung's deformity was noticed, first clinically, and later radiographically as well. Genetic analysis revealed short- stature homeobox gene deficiency and confirmed the diagnosis of Leri Weill syndrome. Conclusions: This case report emphasizes the need for reporting refractory, complicated cases from everyday clinical practice in order to build-up the overall knowledge and share experience which is complementary to available guidelines. Individual reports of difficult to treat cases, especially when additional diagnoses are involved, can be helpful for physicians treating patients with common rheumatological diseases such as juvenile idiopathic arthritis.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove:
Medicinski fakultet, Zagreb,
KBC "Sestre Milosrdnice"

Profili:

Avatar Url Miroslav Harjaček (autor)

Avatar Url Lovro Lamot (autor)

Citiraj ovu publikaciju

Vukić, Vana; Smajo, Ana; Vidović, Mandica; Vukojević, Rudolf; Harjaček, Miroslav; Lamot, Lovro
Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome // BMC Pediatrics, 21 (2021), 1. doi:10.1186/s12887-021-02494-6 (međunarodna recenzija, članak, ostalo)
Vukić, V., Smajo, A., Vidović, M., Vukojević, R., Harjaček, M. & Lamot, L. (2021) Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome. BMC Pediatrics, 21 (1) doi:10.1186/s12887-021-02494-6.
@article{article, year = {2021}, DOI = {10.1186/s12887-021-02494-6}, chapter = {40}, keywords = {Case report, Juvenile idiopathic arthritis, Leri Weill syndrome, Madelung deformity, Tofacitinib}, journal = {BMC Pediatrics}, doi = {10.1186/s12887-021-02494-6}, volume = {21}, number = {1}, issn = {1471-2431}, title = {Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome}, keyword = {Case report, Juvenile idiopathic arthritis, Leri Weill syndrome, Madelung deformity, Tofacitinib}, chapternumber = {40} }
@article{article, year = {2021}, DOI = {10.1186/s12887-021-02494-6}, chapter = {40}, keywords = {Case report, Juvenile idiopathic arthritis, Leri Weill syndrome, Madelung deformity, Tofacitinib}, journal = {BMC Pediatrics}, doi = {10.1186/s12887-021-02494-6}, volume = {21}, number = {1}, issn = {1471-2431}, title = {Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome}, keyword = {Case report, Juvenile idiopathic arthritis, Leri Weill syndrome, Madelung deformity, Tofacitinib}, chapternumber = {40} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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