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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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

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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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, br. 6, 2017, str. 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 i 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, br. 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), str. 416-423. doi: 10.3325/cmj.2017.58.416

Živčić Ćosić S, Mayer K, Đorđević G, Nellist M, Hoogeveen Westerveld M, Miletić D, i 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]. 28.12.2017. [pristupljeno 24.12.2024.];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, br. 6, str. 416-423, Prosinac 2017. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:163130. [Citirano: 24.12.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:163130
Podaci o radu
Naslov (engleski)Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant
AutorStela Živčić-Ćosić
AutorKarin Mayer
AutorGordana Đorđević
AutorMark Nellist
AutorMarianne Hoogeveen-Westerveld
AutorDamir Miletić
AutorSanjin Rački
AutorHanns-Georg Klein
AutorZlatko Trobonjača
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za fiziologiju, imunologiju i patofiziologiju)
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za opću patologiju i patološku anatomiju)
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za urologiju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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.
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaCroatian medical journal
Brojčani podacivol. 58, br. 6, str. 416-423
p-ISSN0353-9504
e-ISSN1332-8166
DOIhttps://doi.org/10.3325/cmj.2017.58.416
URN:NBNurn:nbn:hr:184:163130
Datum objave publikacije2017-12-28
URL dokumentahttps://hrcak.srce.hr/200235
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2018-05-20 18:38:11