[The nail-patella syndrome].
The nail-patella syndrome (synonym of onychoosteodysplasia) is considered to be an autosomal dominant hereditary disease affecting numerous tissues of ectodermal and mesodermal origin. The changes are mostly found on nails, patellae, eyes and joints. The symptoms of nephropathy are present in 30% to 40% of patients, and renal insufficiency with typical signs of the syndrome in 25% of patients. This report describes a female patient with renal insufficiency on chronic hemodialysis treatment, in whom diagnosis of the nail-patella syndrome has been made at 36 years of age. The incidence of the syndrome has been noted in 11 members of the patient's family, but without clinical signs of nephropathy.
Slavicek
J
J
Centar za dijalizu Klinike za urologiju Medicinskog fakulteta Sveucilista u Zagrebu.
Smalcelj
R
R
Puretić
Z
Z
Bratelj
Z
Z
Smetisko
A
A
D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009261:Nail-Patella Syndrome / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree
Nail-patella sindrom.