Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant
| Autor: | Karin Mayer, Hanns-Georg Klein, Sanjin Rački, Mark Nellist, Zlatko Trobonjača, Damir Miletić, Stela Živčić-Ćosić, Marianne Hoogeveen-Westerveld, Gordana Đorđević |
|---|---|
| Přispěvatelé: | Clinical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Severe bleeding Adult medicine.medical_specialty BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences congenital hereditary and neonatal diseases and abnormalities Angiomyolipoma Mutation Missense Case Report macromolecular substances tuberous sclerosis Postoperative Hemorrhage Kidney 03 medical and health sciences Tuberous sclerosis Female patient Tuberous Sclerosis Complex 2 Protein medicine Missense mutation Humans business.industry Tumor Suppressor Proteins BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti fungi food and beverages General Medicine Exons medicine.disease Dermatology Kidney Transplantation Kidney Neoplasms nervous system diseases 030104 developmental biology medicine.anatomical_structure Female TSC2 Neoplasm Recurrence Local business |
| Zdroj: | Croation Medical Journal, 58(6), 416-423. Medicinska Naklada d.o.o Croatian medical journal Volume 58 Issue 6 Croatian Medical Journal |
| ISSN: | 0353-9504 1332-8166 |
| Popis: | We presented an extremely severe case of tuberous sclerosis complex (TSC) in a female patient with recurring, life-threatening bleeding complications related to renal angi-omyolipomas. 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 kid- ney 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 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|