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Am J Kidney Dis. 2013 Mar;61(3):519-22. doi: 10.1053/j.ajkd.2012.08.044. Epub 2012 Nov 21.

Anuric acute kidney injury in neurofibromatosis 1.

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Department of Medicine, Section of Nephrology, Yale University School of Medicine, New Haven, CT 06520-8029, USA.


Neurofibromatosis is one of several genetic disorders characterized by hyperpigmented skin spots (café au lait spots) and multiple neurofibromas. It was first reported by Friedrich Daniel von Recklinghausen in 1882. There are 2 types of neurofibromatosis described in the literature: von Recklinghausen disease, or neurofibromatosis 1 that involves peripheral nerve sheaths, and central, or neurofibromatosis 2. Neurofibromatosis 1 very commonly involves renal arteries, and hypertension commonly is present in these patients due to stenotic ostial lesions resulting in bilateral renal artery stenosis. However, renal artery aneurysms, renal artery thrombosis, or external compression by neurofibromas also may cause hypertension. We present a unique case of a man with neurofibromatosis 1 presenting with anuric acute kidney injury, followed by a brief discussion of neurofibromatosis 1 and its association with renovascular disease.

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