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Introduction: Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by conditions involving many systems, including benign hamartomas of the brain, eyes, heart, lung, liver, kidney, and skin. It is an autosomal dominant genetic disorder with an incidence of approximately 1 in 5,000 to 10,000 live births. It is caused by pathogenic variants in the TSC1 or TSC2 genes, resulting in overactivation of the mTOR pathway. De novo pathogenic variants account for 80% of TSCs, while the prevalence of TSC1 and TSC2 pathogenic variants is approximately equal among familial TSC cases. Kidney lesions are common among patients with TSC and their prevalence increases with age. Angiomyolipomas are the most common renal manifestation. Diagnosis of kidney and brain tumors is made with annual imaging (gold standard MRI). The treatment of kidney disease is only nephroprotection.
Clinical case: A 52-year-old female patient with a history of high blood pressure and chronic kidney disease of unknown etiology. He consulted for decompensated chronic renal failure with severe metabolic acidosis, uremic syndrome and need for emergency hemodialysis (uremia 3.33 g/L, creatinine 192 mg/L and anemia Hct 23%, Hb 7.3 mg/dl). He was admitted to the critical care unit and progressed favorably. A diagnosis of end-stage chronic kidney disease was made and admission to renal replacement therapy was made.
The diagnosis of TSC was made due to two main criteria: facial angiokeratoma and nail fibromas in the feet and hands (Koenen tumors); and two minor criteria: hypomelanotic lesions on the back. Tomography and ultrasound: kidneys reduced in size with numerous hypodense bilateral and parapelvic simple cortical chemical images. He reported skin lesions since childhood and a family history of nail fibromas. Injuries to the retina, brain, thorax and abdomen are ruled out. It was decided to start a genetic study.
Conclusions: TSC is a rare pathology with great polymorphism in its clinical presentation. We present this case to increase diagnostic suspicion in primary care patients with characteristic dermal lesions. Achieve early diagnosis and follow-up, due to the high probability of developing tumor lesions throughout the patient's life.