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Renal involvement in genetic neurocutaneous syndromes.

Clinical Nephrology 2024 September 6
Phakomatoses, otherwise known as neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, and central nervous system. In addition to the common neurocutaneous syndromes (neurofibromatosis, tuberous sclerosis complex, Sturge Weber syndrome, Von Hippel-Lindau syndrome), a large number of relatively uncommon phakomatoses have been described in the literature. Cardiovascular, pulmonary, and musculoskeletal systems involvement in these disorders have been reported. Data on kidney involvement is not well described. This review discusses renal involvement in neurocutaneous syndromes. This includes the association with renal masses (cyst, angiomyolipoma, benign or malignant tumor), known vasculopathy, glomerular or tubular disorders, urinary tract anomalies, hypertension, and chronic kidney disease.

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