Management of a Patient with Tuberous Sclerosis with Urological Clinical Manifestations
The tuberous sclerosis complex (TSC) is highly variable as far as its clinical presentation is concerned. For the implementation of appropriate medical surveillance and treatment, an accurate diagnosis is compulsory. TSC may affect the heart, skin, kidneys, central nervous system (epileptic seizures...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-07-01
|
| Series: | Medicina |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1010-660X/56/8/369 |
| _version_ | 1797706458056359936 |
|---|---|
| author | Vlad Padureanu Octavian Dragoescu Victor Emanuel Stoenescu Rodica Padureanu Ionica Pirici Radu Cristian Cimpeanu Dop Dalia Alexandru Radu Mihailovici Paul Tomescu |
| author_facet | Vlad Padureanu Octavian Dragoescu Victor Emanuel Stoenescu Rodica Padureanu Ionica Pirici Radu Cristian Cimpeanu Dop Dalia Alexandru Radu Mihailovici Paul Tomescu |
| author_sort | Vlad Padureanu |
| collection | DOAJ |
| description | The tuberous sclerosis complex (TSC) is highly variable as far as its clinical presentation is concerned. For the implementation of appropriate medical surveillance and treatment, an accurate diagnosis is compulsory. TSC may affect the heart, skin, kidneys, central nervous system (epileptic seizures and nodular intracranial tumors—tubers), bones, eyes, lungs, blood vessels and the gastrointestinal tract. The aim of this paper is to report renal manifestations as first clinical signs suggestive of TSC diagnosis. A 20-year-old patient was initially investigated for hematuria, dysuria and colicky pain in the left lumbar region. The ultrasound examination of the kidney showed bilateral hyperechogenic kidney structures and pyelocalyceal dilatation, both suggestive of bilateral obstructive lithiasis, complicated by uretero-hydronephrosis. The computer tomography (CT) scan of the kidney showed irregular kidney margins layout, undifferentiated images between cortical and medullar structures, with non-homogenous round components, suggestive of kidney angiomyolipomas, bilateral renal cortical retention cysts, images of a calculous component in the right middle calyceal branches and a smaller one on the left side. The clinical manifestations and imaging findings (skull and abdominal and pelvis CT scans) sustained the diagnosis. |
| first_indexed | 2024-03-12T05:51:32Z |
| format | Article |
| id | doaj.art-6f006c8d38df4ba98b6ec75ddddf8582 |
| institution | Directory Open Access Journal |
| issn | 1010-660X |
| language | English |
| last_indexed | 2024-03-12T05:51:32Z |
| publishDate | 2020-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj.art-6f006c8d38df4ba98b6ec75ddddf85822023-09-03T05:03:32ZengMDPI AGMedicina1010-660X2020-07-015636936910.3390/medicina56080369Management of a Patient with Tuberous Sclerosis with Urological Clinical ManifestationsVlad Padureanu0Octavian Dragoescu1Victor Emanuel Stoenescu2Rodica Padureanu3Ionica Pirici4Radu Cristian Cimpeanu5Dop Dalia6Alexandru Radu Mihailovici7Paul Tomescu8Department of Internal Medicine, University of Medicine and Pharmacy Craiova, 200349 Craiova, RomaniaDepartment of Urology, University of Medicine and Pharmacy Craiova, 200349 Craiova, RomaniaDepartment of Urology, University of Medicine and Pharmacy Craiova, 200349 Craiova, RomaniaDepartment of Biochemistry, University of Medicine and Pharmacy of Craiova, 200349 Craiova, RomaniaDepartment of Anatomy, University of Medicine and Pharmacy of Craiova, 200349 Craiova, RomaniaStudent, University of Medicine and Pharmacy Craiova, 200349 Craiova, RomaniaDepartment of Pediatrics, University of Medicine and Pharmacy of Craiova, 200349 Craiova, RomaniaDepartment of Cardiology, University of Medicine and Pharmacy Craiova, 200349 Craiova, RomaniaDepartment of Urology, University of Medicine and Pharmacy Craiova, 200349 Craiova, RomaniaThe tuberous sclerosis complex (TSC) is highly variable as far as its clinical presentation is concerned. For the implementation of appropriate medical surveillance and treatment, an accurate diagnosis is compulsory. TSC may affect the heart, skin, kidneys, central nervous system (epileptic seizures and nodular intracranial tumors—tubers), bones, eyes, lungs, blood vessels and the gastrointestinal tract. The aim of this paper is to report renal manifestations as first clinical signs suggestive of TSC diagnosis. A 20-year-old patient was initially investigated for hematuria, dysuria and colicky pain in the left lumbar region. The ultrasound examination of the kidney showed bilateral hyperechogenic kidney structures and pyelocalyceal dilatation, both suggestive of bilateral obstructive lithiasis, complicated by uretero-hydronephrosis. The computer tomography (CT) scan of the kidney showed irregular kidney margins layout, undifferentiated images between cortical and medullar structures, with non-homogenous round components, suggestive of kidney angiomyolipomas, bilateral renal cortical retention cysts, images of a calculous component in the right middle calyceal branches and a smaller one on the left side. The clinical manifestations and imaging findings (skull and abdominal and pelvis CT scans) sustained the diagnosis.https://www.mdpi.com/1010-660X/56/8/369tuberous sclerosisangiomyolipomatosisuretero-hydronephrosisangiofibromas |
| spellingShingle | Vlad Padureanu Octavian Dragoescu Victor Emanuel Stoenescu Rodica Padureanu Ionica Pirici Radu Cristian Cimpeanu Dop Dalia Alexandru Radu Mihailovici Paul Tomescu Management of a Patient with Tuberous Sclerosis with Urological Clinical Manifestations Medicina tuberous sclerosis angiomyolipomatosis uretero-hydronephrosis angiofibromas |
| title | Management of a Patient with Tuberous Sclerosis with Urological Clinical Manifestations |
| title_full | Management of a Patient with Tuberous Sclerosis with Urological Clinical Manifestations |
| title_fullStr | Management of a Patient with Tuberous Sclerosis with Urological Clinical Manifestations |
| title_full_unstemmed | Management of a Patient with Tuberous Sclerosis with Urological Clinical Manifestations |
| title_short | Management of a Patient with Tuberous Sclerosis with Urological Clinical Manifestations |
| title_sort | management of a patient with tuberous sclerosis with urological clinical manifestations |
| topic | tuberous sclerosis angiomyolipomatosis uretero-hydronephrosis angiofibromas |
| url | https://www.mdpi.com/1010-660X/56/8/369 |
| work_keys_str_mv | AT vladpadureanu managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations AT octaviandragoescu managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations AT victoremanuelstoenescu managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations AT rodicapadureanu managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations AT ionicapirici managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations AT raducristiancimpeanu managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations AT dopdalia managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations AT alexandruradumihailovici managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations AT paultomescu managementofapatientwithtuberoussclerosiswithurologicalclinicalmanifestations |