ArticleIndian journal of nephrology
A Case of Hearing Impairment with Renal Dysfunction.
Article in Indian journal of nephrology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Hearing impairment in a patient with renal failure is an important clue towards etiologic diagnosis of kidney disease. Variety of hereditary diseases, developmental defects, and toxins involve these two organs. However, additional retinopathy is seen in quite a few diseases which include Alport's syndrome and Muckle-Wells syndrome (MWS). We are reporting a case of middle-aged woman with childhood-onset of hearing impairment who presented with renal failure and was diagnosed to have renal amyloidosis on kidney biopsy but without any light chain restriction. During evaluation for live donor kidney transplant, her brother was also found to have hearing impairment and retinopathy however with normal renal function and urinalysis. Genetic testing of both of them was done for panel of mutations related to hereditary amyloidosis which revealed NLRP3 mutation in both. This mutation is characteristic of MWS which can lead to secondary amyloidosis and renal failure.
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