1/13. Nail-patella glomerulopathy without associated constitutional abnormalities.A 17-year-old boy presented with a history of longstanding hematuria and non-nephrotic proteinuria without renal insufficiency, for which renal biopsy was performed. The findings by routine light microscopy and direct immunofluorescence study were mild and nonspecific. Electron microscopy, however, demonstrated the unexpected finding of distinct collagen fibrils within capillary wall basement membranes, typical of the nail-patella syndrome. Repeat physical examination following the biopsy confirmed the presence of normal nails and patellae, and radiographs of the knees were also normal. The boy's renal disease was stable at last follow-up. The authors briefly discuss the differential diagnosis, and suggest that this case represents an unusual manifestation of the nail-patella syndrome, in which the glomerular changes are present in the absence of the usual associated constitutional abnormalities.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
2/13. nail-patella syndrome in a spontaneously aborted 18-week fetus: ultrastructural and immunofluorescent study of the kidneys.nail-patella syndrome (NPS), hereditary onycho-osteodysplasia, is an autosomal dominant disorder of nail dystrophy, patellar absence or hypoplasia, incomplete elbow extension, conical posterior iliac horns, and nephropathy. We studied the kidneys of an 18-week spontaneously aborted fetus of a mother with the NPS. Ultrastructural examination of the kidney showed thickening of the capillary walls of the glomeruli and mesangium. There was irregular thickening of basement membranes with subendothelial fibrillar electron-dense deposits. Immunofluorescence showed fibrinogen deposition in glomerular basement membranes. fibrinogen deposition in utero may ultimately lead to glomerular fibrosis and intrabasement membrane collagen deposition as seen in the adult renal lesion of this syndrome. This is the first report of the NPS in which the renal abnormalities have been studied in a fetus. These findings provide support for possible prenatal diagnosis of NPS by intra-uterine kidney biopsy.- - - - - - - - - - ranking = 3keywords = membrane (Clic here for more details about this article) |
3/13. The Nail Patella syndrome--a report of a family.This report describes two cases of the Nail Patella Syndrome with renal involvement. Pathological studies include immunochemistry, light microscopy, immunofluorescence and electron microscopy. The possibility of secondary immune damage to altered glomerular basement membrane is suggested as a cause of the progressive renal disease which occurs in some of these cases.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
4/13. Living-related renal transplantation in a patient with nail-patella syndrome.Living-related renal transplantation was performed successfully in a patient with nail-patella syndrome. Graft biopsy 18 months post-transplantation showed normal glomerular basement membrane by electron microscopy. Dystrophic nails of both index fingers had also regrown, suggesting the donor kidney might replenish deficient factors.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
5/13. Nephropathy of nail-patella syndrome.Ultrastructural renal lesions of a sporadic case of nail-patella syndrome are described. Although the patient, an 8-year-old Japanese boy, had no clinical renal syndrome, electron microscopy disclosed the presence of collagen fibrils and electron lucent areas within glomerular basement membrane. Comparative observation of glomeruli in sections stained by uranyl-acetate and lead-citrate and those by PTAH-uranyl revealed evidence of many collagen fibrils in mesangial matrix, as well as glomerular basement membrane. At the follow-up study 3 years after the biopsy, he still showed normal urinalysis and no renal dysfunction. Characteristic ultrastructure of glomerulus of this disease can be present even in cases without any apparent clinical renal involvement. It is concluded that the glomerular lesions in nail-patella syndrome may be caused by abnormal metabolic processes of collagen in glomeruli rather than entrapment of circulating collagen precursors.- - - - - - - - - - ranking = 2keywords = membrane (Clic here for more details about this article) |
6/13. Renal histopathology of the nail-patella syndrome in a two-year-old boy.A two-year-old child with the clinical stigmata of nail-patella syndrome, congenital urinary tract anomalies and proteinuria underwent renal biopsy. Electron microscopy revealed characteristic electron lucent areas and collagen fibril-like deposits in the glomerular basement membrane. Of special interest, electron dense deposits were seen in subendothelial areas of the capillary loops and immunofluorescent staining was striking, particularly for IgM, in a peripheral capillary loop pattern.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
7/13. vasculitis and renal disease in nail-patella syndrome: case report and literature review.A 57 year old man with nail-patella syndrome (NPS) and associated renal disease is described who developed an inflammatory polyarthropathy and polyarteritis-like vasculitis. vasculitis and serum complement abnormalities have not previously been reported in NPS. NPS is a rare autosomal dominant connective tissue disorder affecting both mesenchymal and ectodermal tissue. The condition is reviewed with particular reference to its renal pathology, including the distinctive electron microscopic (EM) finding of collagen deposition in the glomerular basement membrane (GBM). The possibility of the underlying collagen abnormality acting as a trigger for immune-inflammatory changes is discussed.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
8/13. An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred.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." Neither the patient nor his relatives had bone or nail abnormalities; however, 2 other sibs had died of complications of end-stage renal disease at age 6 and 9, leading us to suspect autosomal recessive inheritance of a severe nephropathy or glomerulodysplasia.- - - - - - - - - - ranking = 4keywords = membrane (Clic here for more details about this article) |
9/13. nail-patella syndrome.Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to have proteinuria and renal insufficiency. The changes on electron microscopy were identical to those observed in nail-patella syndrome, a rare hereditary disease with ectodermal and mesodermal involvement, manifested as bony and nail abnormalities. Nephropathy is now a well established part of this syndrome. Our cases did not have the typical bony and nail changes. We feel these three cases represent a partial gene penetrance or manifestation of only a portion of gene complex involved in this syndrome.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
10/13. nail-patella syndrome. A distinctive clinical and electron microscopic presentation.A case of nail-patella syndrome is presented in which cerebral vessel and aortic dilatation was noted. The skin revealed epidermal basement membrane thickening and redundancy in addition to significant perivascular basal lamina reduplication by electron microscopy. The significance of these findings is discussed.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
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