Nail-patella syndrome

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

Proteinuria

Increased levels of protein in the urine.


Total: 3

                       


(per page)
PMID (PMCID)
18634531
 MIXED_SAMPLE Adult
[The nail-patella syndrome: rare genetically determined cause of proteinuria].
Zarzecki M, Nieszporek T, Chudek J, Wiecek A.
Pol Arch Med Wewn. 2006;116(6):1192-9.
[The nail-patella syndrome: rare genetically determined cause of proteinuria].
3365866
 MALE
Renal histopathology of the nail-patella syndrome in a two-year-old boy.
Browning MC, Weidner N, Lorentz WB Jr.
Clin Nephrol. 1988;29(4):210-3.
A two-year-old child with the clinical stigmata of nail-patella syndrome, congenital urinary tract anomalies and proteinuria underwent renal biopsy.
6507504
 MALE Child
An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred.
Salcedo JR.
Am J Med Genet. 1984;19(3):579-84.
We present a 9-year-old boy, the product of a consanguineous marriage, with proteinuria, edema, and microscopic hematuria with mild renal impairment since age 2 yr. Renal biopsy showed the histopathologic electron microscopic changes seen in hereditary osteo-onchyodysplasia (HOOD) [Hoyer et al, 1972; Bennet et al, 1973; DelPozo and Lapp 1970; Vernier et al, 1974; Morita et al, 1973] or "nail-patella syndrome."