Document Detail


Nail-patella syndrome and IgA nephropathy in a Chinese woman.
MedLine Citation:
PMID:  10643004     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Nail-patella syndrome (NPS), also known as hereditary onycho-osteodysplasia, is an autosomal dominant pleiotropic disorder characterized by nailbed dysplasia or hypoplasia, absent or hypoplastic patellae, iliac horns and deformation or luxation of the radial head. Nephropathy is a known serious complication associated with NPS. In this report, we describe an adult Chinese woman with the clinical and radiological features of NPS who presented with the nephrotic syndrome. Renal biopsy disclosed focal segmental glomerulosclerosis on light microscopy, while immunofluorescence revealed predominant staining for IgA in the glomerular mesangium and along some capillary walls. Ultrastructural study confirmed the presence of paramesangial deposits as well as subendothelial collagen fibrils in the glomeruli. The histological findings were those of combined NPS and IgA disease, an association which has rarely been described.
Authors:
K L Chuah; P H Tan; H L Choong; D Lai; G Chiang
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pathology     Volume:  31     ISSN:  0031-3025     ISO Abbreviation:  Pathology     Publication Date:  1999 Nov 
Date Detail:
Created Date:  2000-02-04     Completed Date:  2000-02-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0175411     Medline TA:  Pathology     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  345-9     Citation Subset:  IM    
Affiliation:
Department of Pathology, Singapore General Hospital, Singapore.
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MeSH Terms
Descriptor/Qualifier:
Adult
China / ethnology
Female
Glomerular Mesangium / chemistry,  ultrastructure
Glomerulonephritis, IGA / complications,  diagnosis*,  ethnology
Glomerulosclerosis, Focal Segmental / pathology
Humans
Immunoglobulin A / analysis
Knee Joint / radiography
Microscopy, Fluorescence
Nail-Patella Syndrome / complications,  diagnosis*,  ethnology
Nephrotic Syndrome / ethnology,  etiology
Patella / radiography
Chemical
Reg. No./Substance:
0/Immunoglobulin A

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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