, Volume 42, Issue 2, pp 499-502
Date: 19 Mar 2009

Renal involvement in nail-patella syndrome: report of three cases

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Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia (HOOD) was originally described in 1820 by Chatelian, a patient with a triad of abnormal nails, elbows, and knees. The first report describing the family cluster of the disease was published in 1969 by Beals and Eckhardt [1]. Case reports in the literature regarding the nephropathy observed in NPS are varied, including minimal change disease [2], recurrent urinary tract infections, nephrolithiasis vesicoureteral reflux, renal hypoplasia/atrophy, PAN-type vasculitis [3], and Goodpasture’s syndrome [4].

Here we report three cases with their respective pedigrees followed at our institution with evidence of different types of renal manifestations.

Case 1

A 38-year-old white female presented to our clinic with proteinuria, microscopic hematuria, and hypertension. The patient was diagnosed with nail-patella syndrome 8 years prior to our evaluation. Upon initial presentation, she had chronic knee pain, absent patella, and dystrophic ...