결절성 경화증은 과오종의 발생을 특징으로 하는 유전질환으로, 피부, 뇌, 심장, 눈, 폐, 구강, 신장 등의 다양한 장기들을 침범한다. 신장에서 관찰 가능한 다양한 병변들은 발생 빈도와 사망률이 높기 때문에 주의를 필요로 하며, 신장 증상의 이른 발생 시기를 고려하여 소아 연령에서부터 적절한 진단과 관리가 중요하다. 저자들은 소아 연령에서 발생한 거대 혈관근육지방종, 신세포암, 신경색, 신낭종, 그리고 신결석증 등이 동반된 결절성 경화증 4례를 경험하였기에 보고하는 바이다.
결절성 경화증은 과오종의 발생을 특징으로 하는 유전질환으로, 피부, 뇌, 심장, 눈, 폐, 구강, 신장 등의 다양한 장기들을 침범한다. 신장에서 관찰 가능한 다양한 병변들은 발생 빈도와 사망률이 높기 때문에 주의를 필요로 하며, 신장 증상의 이른 발생 시기를 고려하여 소아 연령에서부터 적절한 진단과 관리가 중요하다. 저자들은 소아 연령에서 발생한 거대 혈관근육지방종, 신세포암, 신경색, 신낭종, 그리고 신결석증 등이 동반된 결절성 경화증 4례를 경험하였기에 보고하는 바이다.
Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems and causes tumors. It is important that physicians are aware of the manifestations of TSC, and that they follow the recommendations for screening and evaluation. Several types of renal abnormalities may develo...
Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems and causes tumors. It is important that physicians are aware of the manifestations of TSC, and that they follow the recommendations for screening and evaluation. Several types of renal abnormalities may develop in individuals with TSC. Individuals with TSC may require ongoing treatment that can be adapted for each arising manifestation of renal disease. Herein, we report 4 patients with TSC who presented with a range of different renal manifestations, including angiomyolipoma, renal cell carcinoma, renal infarction, renal cyst, and nephrolithiasis.
Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems and causes tumors. It is important that physicians are aware of the manifestations of TSC, and that they follow the recommendations for screening and evaluation. Several types of renal abnormalities may develop in individuals with TSC. Individuals with TSC may require ongoing treatment that can be adapted for each arising manifestation of renal disease. Herein, we report 4 patients with TSC who presented with a range of different renal manifestations, including angiomyolipoma, renal cell carcinoma, renal infarction, renal cyst, and nephrolithiasis.
* AI 자동 식별 결과로 적합하지 않은 문장이 있을 수 있으니, 이용에 유의하시기 바랍니다.
문제 정의
The lesion seemed to be a sequela of infarction, and cortical defects were found in the same lesion on dimercaptosuccinic acid scan. To our knowledge, renal infarction with TSC is a very rare presentation, and this is the first case report to document it. We suspect that this presentation was caused by stenosis of the main vessels due to multiple nearby tumor and cystic lesions.
신장에서 관찰 가능한 다양한 병변들은 발생 빈도와 사망률이 높기 때문에 주의를 필요로 하며, 신장 증상의 이른 발생 시기를 고려하여 소아 연령에서부터 적절한 진단과 관리가 중요하다. 저자들은 소아 연령에서 발생한 거대 혈관근육지방종, 신세포암, 신경색, 신낭종, 그리고 신결석증 등이 동반된 결절성 경화증 4례를 경험하였기에 보고하는 바이다.
제안 방법
After having a seizure at the age of three, the patient’s clinical workup revealed subependymal nodules, cortical tubers, and retinal nodular hamartomas, which led to a diagnosis of TSC.
대상 데이터
A 25-year-old woman complained of abdominal pain and presented with a palpable mass to our emergency room. At nine years of age, brain magnetic resonance imaging and abdominal ultrasonography (US) identified subependymal multiple nodules and angiomyolipomas; thus, she was diagnosed with TSC.
An 18-year-old boy was referred to our pediatric nephrology department after experiencing hematuria and hypertension. After having a seizure at the age of three, the patient’s clinical workup revealed subependymal nodules, cortical tubers, and retinal nodular hamartomas, which led to a diagnosis of TSC.
3). The patient, who suffered from developmental cognitive impairment, was diagnosed with TSC when he was two years old after identification of cortical tubers, subependymal nodules, cardiac rhabdomyoma, and renal AMLs. Because his symptoms do not directly affect his kidneys, he is under close observation.
A 17-year-old boy presented with left flank pain to the department of pediatric nephrology. He had multiple red facial papules and hypomelanotic macules and had been diagnosed with TSC when he was 12 years old due to findings of cortical tubers, cardiac rhabdomyoma, and hepatic AML.
Renal AML is an uncommon benign tumor that is made up of adipose tissue, blood vessels, and smooth muscle tissue; 50-70% of people with TSC develop renal AMLs[5]. One patient, who had giant bilateral AMLs (case 1), experienced abdominal discomfort at the age of 18 due to AMLs 7.7 cm and 4.6 cm in size. Koo et al [6] recommend angioembolization or surgical intervention for symptomatic tumors larger than 4 cm.
성능/효과
In conclusion, TSC patients can have various renal manifestations, including angiomyolipoma, renal cell carcinoma, renal infarction, multiple renal cysts, and nephrolithiasis. Therefore, scheduled follow-up examination is necessary for the early detection and proper treatment of the renal disease.
참고문헌 (13)
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2 , compared with TSC1, disease in muliple organs. Am J Hum genet 2001;68:64-80.
Koo KC, Kim WT, Ham WS, Lee JS, Ju HJ, Choi YD. Trends of presentation and clinical outcome of treated renal aniomyolipoma. Yonsei Med J 2010;51:728-34.
Planche O, Correas JM, Joly D, Mejean A, Helenon O. Prophylactic embolization of renal angiomyolipomas: evaluation of therapeutic response using CT 3D volume calculation and density histograms. J Vasc Interv Radiol 2011;22:1388-95.
Al-Saleem T, Wessner LL, Scheithauer BW, Patterson K, Roach ES, Dreyer SJ, et al. Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. Cancer 1998;83:2208-16.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.