Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patients
2.2. Methods of Molecular Analysis
2.3. 3D Protein Modeling
3. Results
3.1. Patients
3.1.1. Patient 1—Proband
3.1.2. Remaining Patients
Patient 2
Patient 3
Patient 4
3.2. Genetic Results
Genetic Variant Identification
3.3. Management
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Zegarska, J.; Wiesik-Szewczyk, E.; Hryniewiecka, E.; Wolska-Kusnierz, B.; Soldacki, D.; Kacprzak, M.; Sobczynska-Tomaszewska, A.; Czerska, K.; Siedlecki, P.; Jahnz-Rozyk, K.; et al. Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians. J. Clin. Med. 2021, 10, 465. https://doi.org/10.3390/jcm10030465
Zegarska J, Wiesik-Szewczyk E, Hryniewiecka E, Wolska-Kusnierz B, Soldacki D, Kacprzak M, Sobczynska-Tomaszewska A, Czerska K, Siedlecki P, Jahnz-Rozyk K, et al. Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians. Journal of Clinical Medicine. 2021; 10(3):465. https://doi.org/10.3390/jcm10030465
Chicago/Turabian StyleZegarska, Jolanta, Ewa Wiesik-Szewczyk, Ewa Hryniewiecka, Beata Wolska-Kusnierz, Dariusz Soldacki, Magdalena Kacprzak, Agnieszka Sobczynska-Tomaszewska, Kamila Czerska, Pawel Siedlecki, Karina Jahnz-Rozyk, and et al. 2021. "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians" Journal of Clinical Medicine 10, no. 3: 465. https://doi.org/10.3390/jcm10030465