prikaz prve stranice dokumenta Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant
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Scientific paper - Case study
Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant
Croatian medical journal, 58 (2017), 6; 416-423. https://doi.org/10.3325/cmj.2017.58.416
Živčić-Ćosić, Stela; Mayer, Karin; Đorđević, Gordana; Nellist, Mark; Hoogeveen-Westerveld, Marianne; Miletić, Damir; Rački, Sanjin; Klein, Hanns-Georg; Trobonjača, Zlatko

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Živčić Ćosić, S., Mayer, K., Đorđević, G., Nellist, M., Hoogeveen Westerveld, M., Miletić, D. ... Trobonjača, Z. (2017). Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant. Croatian medical journal, 58. (6), 416-423. doi: 10.3325/cmj.2017.58.416

Živčić Ćosić, Stela, et al. "Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant." Croatian medical journal, vol. 58, no. 6, 2017, pp. 416-423. https://doi.org/10.3325/cmj.2017.58.416

Živčić Ćosić, Stela, Karin Mayer, Gordana Đorđević, Mark Nellist, Marianne Hoogeveen Westerveld, Damir Miletić, Sanjin Rački, Hanns Georg Klein and Zlatko Trobonjača. "Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant." Croatian medical journal 58, no. 6 (2017): 416-423. https://doi.org/10.3325/cmj.2017.58.416

Živčić Ćosić, S., et al. (2017) 'Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant', Croatian medical journal, 58(6), pp. 416-423. doi: 10.3325/cmj.2017.58.416

Živčić Ćosić S, Mayer K, Đorđević G, Nellist M, Hoogeveen Westerveld M, Miletić D, and sur.. Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant. Croatian medical journal [Internet]. 2017 December 28 [cited 2024 December 06];58(6):416-423. doi: 10.3325/cmj.2017.58.416

S. Živčić Ćosić, et al., "Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant", Croatian medical journal, vol. 58, no. 6, pp. 416-423, December 2017. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:163130. [Accessed: 06 December 2024]

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Metadata
Title (english)Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant
AuthorStela Živčić-Ćosić
AuthorKarin Mayer
AuthorGordana Đorđević
AuthorMark Nellist
AuthorMarianne Hoogeveen-Westerveld
AuthorDamir Miletić
AuthorSanjin Rački
AuthorHanns-Georg Klein
AuthorZlatko Trobonjača
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Physiology, Immunology and Pathophxsiology)
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of General Pathology and Pathological Anatomy)
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Urology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
We presented an extremely severe case of tuberous sclerosis complex (TSC) in a female patient with recurring, lifethreatening bleeding complications related to renal angiomyolipomas. Massive intratumoral hemorrhage required surgical removal of both angiomyolipomatous kidneys and kidney transplantation. During the follow-up period, the patient developed severe metrorrhagia that eventually led to hysterectomy and salpingo-oophorectomy. Bleeding from the operative sites caused the loss of the first kidney transplant received from the mother, and immediate hemorrhagic shock led to the loss of the second, cadaveric kidney allograft. The third kidney transplant had a successful outcome. Pathological analysis of all tissue specimens showed TSC-associated lesions and deformed blood vessels in the surgically removed organs. Molecular genetic analysis of TSC1 and TSC2 in the DNA of peripheral leukocytes identified a novel TSC2 c.3599G>C (p.R1200P) variant. Functional assessment confirmed the likely pathogenicity of the TSC2 c.3599G>C (p.R1200P) variant. To the best of our knowledge, this is the first report of the c.3599G>C (p.R1200P) variant in exon 29 of the TSC2 gene related to a severe clinical course and multiple kidney transplants in a patient with TSC.
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCroatian medical journal
Numberingvol. 58, no. 6, pp. 416-423
p-ISSN0353-9504
e-ISSN1332-8166
DOIhttps://doi.org/10.3325/cmj.2017.58.416
URN:NBNurn:nbn:hr:184:163130
Publication2017-12-28
Document URLhttps://hrcak.srce.hr/200235
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2018-05-20 18:38:11