Further expanding the phenotype of anti-Ku antibody associated disease in children and adolescents.

Autor: Batu ED; Department of Pediatrics, Division of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: ezgidenizbatu@yahoo.com., Şener S; Department of Pediatrics, Division of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Haliloğlu G; Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Talim B; Department of Pediatrics, Pathology Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey., Şener B; Department of Medical Microbiology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Şahiner ÜM; Department of Pediatrics, Division of Pediatric Allergy and Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Bilginer Y; Department of Pediatrics, Division of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Orhan D; Department of Medical Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Aydıngöz Ü; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Özen S; Department of Pediatrics, Division of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jul; Vol. 40, pp. 7-15. Date of Electronic Publication: 2024 May 17.
DOI: 10.1016/j.nmd.2024.05.008
Abstrakt: Anti-Ku autoantibodies are associated with several autoimmune inflammatory diseases. We aimed to review our anti-Ku positive pediatric patients in this study. Four pediatric patients (all female) who had anti-Ku positivity were included (Patients 1-2-3 with idiopathic inflammatory myopathy (IIM); Patient 4 with chronic urticaria). Patient 1 (onset:10.5 years) had proximal muscle weakness, Raynaud phenomenon, sclerodactyly, hyperpigmentation, joint contracture, and tenosynovitis. The disease course was progressive despite treatment with corticosteroids, intravenous immunoglobulin (IVIG), plasma exchange, and 11 different immunosuppressive drugs. Patient 2 (onset:15 years) presented with proximal muscle weakness, fatigue, weight loss. She recovered normal muscle strength after treatment with corticosteroids, IVIG, methotrexate, cyclosporine A, mycophenolate mofetil. Patient 3 (onset:10 years) had juvenile dermatomyositis with proximal muscle weakness, Gottron's papules, and calcinosis. She also had anti-NXP2 positivity. Remission was achieved with corticosteroids, methotrexate, azathioprine, and infliximab. Muscle biopsy findings revealed a variable spectrum of necrosis, regeneration, perifascicular pattern, and inflammation. Patient 4 had only chronic urticaria (onset: 6.5 years). The striking features of this series were heterogeneity in clinical presentations including solely chronic urticaria and IIM; variable response to immunosuppressive treatments; and histopathology revealing a spectrum of necrosis, regeneration and inflammatory infiltration. Expanding the spectrum of anti-Ku positivity will allow better understanding of anti-Ku-associated phenotype clusters.
Competing Interests: Declaration of competing interest Ezgi Deniz Batu received payment for the speakers bureau from Novartis. Seza Özen received consultancy fees and payment for speakers bureau from Novartis and Sobi. Other authors declare no conflicts of interest.
(Copyright © 2024. Published by Elsevier B.V.)
Databáze: MEDLINE
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