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Abstract

Objective: Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease characterized by the development of benign neoplasia in skin, brain and kidneys. There are three particular renal disorders in TSC including renal cysts, renal angiomyolipoma and renal cell carcinoma. In the current study we aimed to investigate renal findings of TSC patients followed in our clinic. Methods: Patients’ family history, convulsion history, age, gender, physical examination findings, renal function tests, ultrasound and/or magnetic resonance imaging, results of computerized tomography, echocardiography and eye findings were found from hospital records and evaluated. Tuberous sclerosis diagnosis was made by clinical and imaging findings in 19 patients. Results: Nineteen cases were included in study. Eleven was males and the remaining 8 were females. The mean age was 75.5±65, 1 month (3 month- 18 year) and follow up time was 14.6±7 month. Renal angiomyolipoma was the most commonly seen pathology alone (4 patients-21%) and with renal cysts (5 patients-26.3%). Autosomal dominant polycystic kidney disease was with TSC in two patients. Four patients were presented with only simple renal cysts. Two patients had increased renal echogenicity and one patient had mild pelvicaliectasis. Ureteropelvic junction obstruction, urinary tract infection, nephrolithiasis and hemorrhages are commonly seen complications in TSC. Five patients had history of urinary tract infection. None of the patients had bleeding or rupture complication. Hypertension and end stage renal disease were not seen. Conclusion: The most commonly seen renal lesions in TSC are angiomyolipomas and kidney cysts. At the time of TSC diagnosis, all the children must be screened for renal involvement and we should remember renal findings can change with time and new findings can be added to old ones. Therefore nephrologist follow up has been done in all patients

Keywords

• Tuberous sclerosis, kidney, children

Tüberoskleroz kompleksinde renal tutulum

Abstract

Amaç: Tuberoskleroz kompleksi (TSK) multisistemik otozomal dominant geçişlidir. Cilt, beyin ve böbrekte benign neoplazilerle karakterizedir. Böbrek lezyonları anjiomyolipom (AML), basit kist, polikistik böbrek hastalığı, renal hücreli karsinom veya bunların birkaçının aynı anda var olması şeklindedir. TSK tanılı kliniğimizde izlediğimiz hastaların renal tutulum özeliklerinin araştırılması Yöntemler: Hastaların aile öyküsü, konvülziyon öyküsü, yaş, cinsiyet, fizik muayene bulguları, böbrek fonksiyon testleri, ultrasonografi ve/veya manyetik rezonans görüntüleri, bilgisayarlı beyin tomografileri, ekokardiografileri ve göz bulguları hastane kayıtlarından bulunarak değerlendirildi. Tuberoskleroz tanısı, klinik ve görüntüleme bulgularına dayanılarak koyuldu. Bulgular: Çalışmaya alınan toplam 19 (E/K:11/8) olgunun yaş ortalaması 75,5±65,1 ay (3ay- 18 yaş) olup, poliklinik izlem süreleri 14,6±7ay arasındaydı. Hastalığın renal tutulumuna yönelik ultrasonografik inceleme tüm olgularımıza yapıldı. Renal ultrasonografik incelemelerinde olgularımızda en sık görülen renal bulgu AML. Tek başına AML 4 (%21) olguda, kortikal kistlerle birlikte AML 5 (%26,3) olguda görüldü. İki olguda otozomal dominant polikistik böbrek hastalığı, 4 olguda renal kist, iki olguda renal ekojenite artışı ve bir olguda pelvikeliektazi izlendi. Böbrek toplayıcı sisteminin kısmi darlığı, idrar yolu enfeksiyonu, nefrolitiyazis ve kanamalar TSK’de en sık görülen komplikasyonlardır. Çalışmamızda beş olguda idrar yolu enfeksiyonu geçirme öyküsü olması dışında, renal kanama ve taş hastalığı görülmedi. Son dönem böbrek yetmezliği ve hipertansiyon hiçbir olgumuzda yoktu. Sonuç: TSK’de en sık görülen böbrek lezyonları anjiyomiyolipomlar ve böbrek kistleridir. TSK tanısı konulan çocuklar böbrek incelemesinden geçirilmeli, izlemde var olan renal bulguların değişkenlik gösterebileceği yeni renal bulguların ortaya çıkabileceği unutulmamalı nefrolojik izlemleri yapılmalıdır. Anahtar kelimeler: Tuberoskleroz, böbrek, çocuk

Keywords

• Tuberoskleroz, böbrek, çocuk

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