Renal Manifestations of Tuberous Sclerosis Complex

Nair, Nikhil; Chakraborty, Ronith; Mahajan, Zubin; Sharma, Aditya; Sethi, S.; Raina, Rupesh

doi:10.15586/jkcvhl.v7i3.131

Cited by 8 publications

(6 citation statements)

References 37 publications

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“…The most common renal pathologies of TSC include angiomyolipoma, renal cysts, and less frequently, oncocytomas. Secondary to impaired renal function, hypertension, and chronic kidney disease may also develop 21 . Epilepsy and renal diseases caused by renal angiomyolipoma are the main causes of death in TSC 22 .…”

Section: Discussionmentioning

confidence: 99%

“…Secondary to impaired renal function, hypertension, and chronic kidney disease may also develop. 21 Epilepsy and renal diseases caused by renal angiomyolipoma are the main causes of death in TSC. 22 No renal pathology was detected in any of our cases that would impair renal functions, and the seizures of patients with epilepsy were under control with antiepileptics.…”

Section: Conflict Of Interest Statementmentioning

confidence: 99%

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Clinical outcomes of fetuses with cardiac rhabdomyoma: A case series from a tertiary center

Okutucu,

Tanacan,

Sahin

2023

J of Obstet and Gynaecol

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AimsThe study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center.MethodsData of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow‐up were analyzed retrospectively.ResultsNine cases were included in the study. The incidence of cardiac rhabdomyoma was 0.003%. The median fetal diagnosis time was 26th weeks, the most common location was the LV. There was no hemodynamic disorder requiring cardiovascular intervention in any of the cases. Of the eight genetically tested cases, four were tuberous sclerosis complex (TSC) gene‐negative, one hereditary TSC2, one de novo TSC1, and two de novo TSC2 gene mutants. Postnatal first‐year survival rate of the cases was 88.8%.ConclusionsCardiac rhabdomyoma is a rare fetal and pediatric pathology that generally is a remarkable finding in the clinical process of TSC. Therefore, cases should be evaluated multisystemically and genetic counseling should be given to the family.

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Section: Discussionmentioning

confidence: 99%

Section: Conflict Of Interest Statementmentioning

confidence: 99%

Clinical outcomes of fetuses with cardiac rhabdomyoma: A case series from a tertiary center

Okutucu,

Tanacan,

Sahin

2023

J of Obstet and Gynaecol

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“…In TSC patients, some primary renal lesions might appear as benign angiomyolipoma (AML), epithelial cysts, oncocytoma, malignant angiomyolipoma, and RCC 12 . Renal angiomyolipoma is histologically made up of smooth muscle, blood vessels, fatty tissue, and connective tissue 13 .…”

Section: Discussionmentioning

confidence: 99%

Bilateral renal angiomyolipoma with left renal artery aneurysm in tuberous sclerosis: case report and literature review

Barabrah,

Dukmak,

Toukan

et al. 2023

Annals of Medicine &Amp; Surgery

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Introduction and Importance: Tuberous sclerosis disorder (TSD) is a rare genetic disease that causes abnormal growths or tumors in various organs of the body. They are usually benign and asymptomatic. However, severe, rapidly growing tuberous sclerosis can be fatal. Renal angiomyolipomas are commonly associated with TSD, which can be further worsened by the presence of aneurysms and put the patient at risk for life-threatening hemorrhage. Case Presentation: A 29-year-old female presented to the emergency room complaining of right flank pain with an unknown past medical history of tuberous sclerosis. The patient was suspected to have TSD as she fulfilled one of the major features of TSD required to establish a possible diagnosis. On CT scan imaging, bilateral fat-density nodules were revealed in both kidneys. The largest is 7 cm in the left kidney, located at the upper pole, and was associated with a bleeding aneurysm measuring 4 cm in diameter. While the other fatty nodule was recorded at 6 cm in the right kidney at the lower pole. Clinical Discussion: After evaluation, the patient was planned for diagnostic catheterization of the left kidney, through which selective angiography of the left kidney was done, and eventually, selective embolization of the branch supplying the left angiomyolipoma was performed. Conclusion: We finally conclude that thorough investigations, including systemic manifestations, must be taken into consideration when suspecting tuberous sclerosis, and a conservative approach must be always prioritized before taking any decision toward invasive approaches.

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“…El 80% desarrolla angiomiolipomas renales, pero también pueden aparecer en otros órganos con menor frecuencia. Los an giomiolipomas renales suelen ser una manifes tación más frecuente en las mujeres debido a la presencia de aumento de los receptores de estrógeno y progesterona en los tumores [3,4].…”

Section: Discussionunclassified

Angiomiolipomas gigantes en paciente con esclerosis tuberosa conocida: Presentación de un caso

Reyna,

Hortal-Gasull

2023

Rev Med Panama

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Paciente femenina de 33 años con antecedente de esclerosis tuberosa diagnosticada a los 3 años de edad, acude al cuarto de urgencias por hematuria, distensión y dolor abdominal intenso de predominio izquierdo. Entre los estudios previos observados en el archivo digital contamos con ultrasonido abdominal de hace 10 años, que reportó innumerables lesiones redondas e hiperecogénicas en relación con angiomiolipomas menores de 4.0 cm. Fue evaluada por el servicio de urología que evidencia abdomen blando, distendido y masa abdominal de consistencia sólida, probablemente secundaria a tumoración renal, por lo que solicitan estudios tomográficos que reportan angiomiolipomas gigantes en ambos riñones, con posterior hematoma retroperitoneal, sin datos de sangrado activo.

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Renal Manifestations of Tuberous Sclerosis Complex

Cited by 8 publications

References 37 publications

Clinical outcomes of fetuses with cardiac rhabdomyoma: A case series from a tertiary center

Clinical outcomes of fetuses with cardiac rhabdomyoma: A case series from a tertiary center

Bilateral renal angiomyolipoma with left renal artery aneurysm in tuberous sclerosis: case report and literature review

Angiomiolipomas gigantes en paciente con esclerosis tuberosa conocida: Presentación de un caso

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