Introduction: Tuberous sclerosis (TS) is a rare systemic autosomal- dominant genetic disease in which multiple hamartomatous lesions occur in many organs and tissues. Kidney involvement of TS usually includes angiomyolipomas, cysts, rarely kidney tumors, but there is not much description of other kidney involvement (proteinuria, hematuria, advanced kidney failure). We present a patient with preterminal renal failure who is diagnosed with tuberous sclerosis.
Case report: A 52-year-old female was admitted to the hospital, due to decreased kidney function with worsening of the general condition and crises of consciousness. During the examination, cutaneous lesions -facial angiofibrolipomas were noticed, the patient was dehydrated and pale. Laboratory analyzes showed elevated parameters of nonspecific inflammation, anemic syndrome, azotemia (Cr 578umol / l, urea 50.1mmol / l, CKD e GFR 10 ml / min / 73m2), leukocyturia, microerythrocyturia, proteinuria 1.5 g / 24h. MSCT of the abdomen indicated hemangiomas of the liver, enlarged kidneys with several hypodense and hyperdense changes - angiomyolipomas. Due to the crisis of consciousness, MSCT of the head was performed, on which cysts and calcifications of the brain were observed. During the treatment, there was a confusing state, agitation, and epilepsy seizure. MRI brain showed multi locular brain cysts with ependymal and subependymal calcified nodules in the lateral ventricles. The applied treatment resulted in a partial recovery of kidney function (CKDeGFR 17 mil / min / 1.73 m2, and further approach in the monitoring and treatment of this patient was multidisciplinary. Chronic renal failure of 4 stages was maintained for a further six-month follow-up.
Conclusion: We underline the importance of a multidisciplinary approach in the treatment of patients, bearing in mind that, as in our patient, a rare genetic disease - tuberous sclerosis can be manifested by kidney failure of preterminal rank.
