Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fibrillary glomerulonephritis (FGN) is a rare disorder accounting for up to 1% of all glomerulonephritis (GN). FGN usually manifests as nephrotic or subnephrotic proteinuria, hematuria, and hypertension in patients after the sixth decade. The overall prognosis of FGN is very poor. Crescentic presentation of FGN is uncommon which may be diagnosed as rapidly progressive glomerulonephritis (RPGN) unless electron microscopy and/or special stains are done. We report a case of a young female who presented as RPGN but diagnosis was revised to crescentic FGN after electron microscopy and immunohistochemical staining with DNAJB9 stain. Patient remained dialysis-dependent after treatment with steroid and cyclophosphamide for 2 months and progressed to end-stage renal disease (ESRD). Crescentic FGN usually does not respond to treatment and invariably progresses to ESRD over few months. This case emphasizes the defining role of electron microscopy and special stains in diagnosing uncommon glomerular diseases.
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PMID:Fibrillary glomerulonephritis presenting as crescentic glomerulonephritis in a young female: a case study. 3265 44

Fibrillary glomerulonephritis (FGN) was previously defined by glomerular deposition of haphazardly oriented fibrils that stain with antisera to immunoglobulins but do not stain with Congo red. We report what is to our knowledge the first series of immunoglobulin-negative FGN, consisting of 9 adults (7 women and 2 men) with a mean age at diagnosis of 66 years. Patients presented with proteinuria (100%; mean protein excretion, 3g/d), hematuria (100%), and elevated serum creatinine level (100%). Comorbid conditions included carcinoma in 3 and hepatitis C virus infection in 2; no patient had hypocomplementemia or monoclonal gammopathy. Histologically, glomeruli were positive for DNAJB9, showed mostly mild mesangial hypercellularity and/or sclerosis, and were negative for immunoglobulins by immunofluorescence on frozen and paraffin tissue. Ultrastructurally, randomly oriented fibrils measuring 13 to 20nm in diameter were seen intermingling with mesangial matrix in all and infiltrating glomerular basement membranes in 5. On follow-up (mean duration, 21 months), 2 had disease remission, 4 had persistently elevated serum creatinine levels and proteinuria, and 3 required kidney replacement therapy. Thus, rare cases of FGN are not associated with glomerular immunoglobulin deposition, and the diagnosis of FGN in these cases can be confirmed by DNAJB9 immunostaining. Pathogenesis remains to be elucidated.
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PMID:Immunoglobulin-Negative DNAJB9-Associated Fibrillary Glomerulonephritis: A Report of 9 Cases. 3271 Oct 71