Resumen

LORENZO, Joana et al. Kidney disease in tuberous sclerosis complex: A single-center experience. Port J Nephrol Hypert [online]. 2020, vol.34, n.3, pp.147-149. ISSN 0872-0169.  https://doi.org/10.32932/pjnh.2020.10.084.

Introduction: Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder which is characterized by multisystem involvement, including the kidney. Since renal disease is one of the causes of morbidity and mortality, close management is essential. Subjects and Methods: In this retrospective observational,single-center study, authors analyse patients with a definite diagnosis of tuberous sclerosis complex who attended Pediatric Nephrology consultation between 1998 and 2019. Results: 20 patients were included. The median age at the time of the diagnosis was 3 years, mostly after seizures and the median age of the first Pediatric Nephrology consultation was 9 years. Seventeen patients had renal disease, the majority with angiomyolipomas and a smaller number with cysts. None had hypertension or history of acute kidney failure. Systemic mTOR inhibitors were used in three patients. Discussion: The present results were similar to those found in the literature regarding presentation features and kidney disease. The authors emphasized the importance of early diagnosis of renal involvement in order to reduce renal morbidity and mortality (especially when these patients reach adulthood) and highlighted the need for early guidance for pediatric nephrology consultation.

Palabras clave : Kidney Disease; Pediatrics; Tuberous Sclerosis Complex.

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