title: Nail-patella syndrome with renal involvement and antecubital pterygia.
abstract: Nail-patella syndrome (NPS) is a rare, autosomal-dominant hereditary disorder characterized by nail dysplasia and multiple osseous abnormalities. Some patients may develop renal function impairment and even end-stage renal disease. We treated a 42-year-old female patient with proteinuria who presented with a web-like structure over the antecubital fossa and hypoplastic patellae. In addition, she had other characteristic findings, including bilateral iliac horn, triangular nail lunulae and hypoplastic radial head. She had impaired renal function, and renal biopsy showed mesangial proliferative glomerulonephritis. Additional cases were found in her family. Her mother had most of the signs of NPS as well as advanced renal failure. Her elder sister had knee abnormalities without the web-like elbow condition. Both daughters also had the characteristic features of NPS. During follow-up 30 months after the initial examination, the patient had stable renal function and mild proteinuria.
authors.affiliation: Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Jia-Jung
authors.initials: JJ
authors.lastname: Lee
authors.forename: Yi-Wen
authors.initials: YW
authors.lastname: Chiu
authors.forename: Yu-Ting
authors.initials: YT
authors.lastname: Kuo
authors.forename: Hung-Chun
authors.initials: HC
authors.lastname: Chen
authors.forename: Shang-Jyh
authors.initials: SJ
authors.lastname: Hwang
mesh_terms: D000328:Adult; D004550:Elbow / Q000002:abnormalities*; D005260:Female; D015432:Glomerulonephritis, Membranoproliferative / Q000209:etiology* / Q000473:pathology; D006801:Humans; D009261:Nail-Patella Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011507:Proteinuria / Q000209:etiology; D013577:Syndrome