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Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review

Tuberous sclerosis complex (TSC) is a genetic disease characterized by the growth of numerous noncancerous tumors in many parts of the body mainly the skin, brain, kidneys. The prevalence of the disease is estimated to be 7 – 12 in 100,000. We report the cases of two black African women diagnosed wi...

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Autores principales: Mbengue, Mansour, Bigirimana, Bede, Diagne, Seynabou, Niang, Abdou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dustri-Verlag Dr. Karl Feistle 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990422/
https://www.ncbi.nlm.nih.gov/pubmed/36896137
http://dx.doi.org/10.5414/CNCS110768
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author Mbengue, Mansour
Bigirimana, Bede
Diagne, Seynabou
Niang, Abdou
author_facet Mbengue, Mansour
Bigirimana, Bede
Diagne, Seynabou
Niang, Abdou
author_sort Mbengue, Mansour
collection PubMed
description Tuberous sclerosis complex (TSC) is a genetic disease characterized by the growth of numerous noncancerous tumors in many parts of the body mainly the skin, brain, kidneys. The prevalence of the disease is estimated to be 7 – 12 in 100,000. We report the cases of two black African women diagnosed with TSC at age 25 and 54. They both had renal angiomyolipoma, facial angiofibroma and diffuse hypochromic macules. The older patient remained stable for the 11 years following her diagnosis. But, in the second patient, the disease was more severe with a giant angiomyolipoma, complicated by renal intracystic hemorrhage leading to the patient’s death 1 month after diagnosis. Renal involvement can be life-threatening in patients with TSC. The risk of fatal bleeding increases with the size of the tumor. The mTOR inhibitors and angioembolization can improve the prognosis of this disease.
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spelling pubmed-99904222023-03-08 Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review Mbengue, Mansour Bigirimana, Bede Diagne, Seynabou Niang, Abdou Clin Nephrol Case Stud Case Report Tuberous sclerosis complex (TSC) is a genetic disease characterized by the growth of numerous noncancerous tumors in many parts of the body mainly the skin, brain, kidneys. The prevalence of the disease is estimated to be 7 – 12 in 100,000. We report the cases of two black African women diagnosed with TSC at age 25 and 54. They both had renal angiomyolipoma, facial angiofibroma and diffuse hypochromic macules. The older patient remained stable for the 11 years following her diagnosis. But, in the second patient, the disease was more severe with a giant angiomyolipoma, complicated by renal intracystic hemorrhage leading to the patient’s death 1 month after diagnosis. Renal involvement can be life-threatening in patients with TSC. The risk of fatal bleeding increases with the size of the tumor. The mTOR inhibitors and angioembolization can improve the prognosis of this disease. Dustri-Verlag Dr. Karl Feistle 2023-03-05 /pmc/articles/PMC9990422/ /pubmed/36896137 http://dx.doi.org/10.5414/CNCS110768 Text en © Dustri-Verlag Dr. K. Feistle https://creativecommons.org/licenses/by/2.5/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mbengue, Mansour
Bigirimana, Bede
Diagne, Seynabou
Niang, Abdou
Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review
title Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review
title_full Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review
title_fullStr Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review
title_full_unstemmed Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review
title_short Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review
title_sort renal angiomyolipoma in tuberous sclerosis complex: case series and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990422/
https://www.ncbi.nlm.nih.gov/pubmed/36896137
http://dx.doi.org/10.5414/CNCS110768
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