Both anti-glomerular basement membrane (GBM) disease and the anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) are common causes of pulmonary-renal syndrome. Organizing pneumonia (OP), a special pattern of interstitial lung disease, is extremely rare either in AAV or anti-GBM disease. We report an old woman presented with OP on a background of co-presentation with both ANCA and anti-GBM antibodies.
Female ; Humans ; Antibodies, Antineutrophil Cytoplasmic ; Organizing Pneumonia ; Autoantibodies ; Glomerulonephritis ; Anti-Glomerular Basement Membrane Disease ; Pneumonia ; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/complications*

PURPOSE: To report a patient with a pseudophakic bullous keratopathy (PBK) who underwent Descemet's membrane stripping endothelial keratoplasty (DSEK) with manual preparation of the donor corneal graft.CASE SUMMARY: A 61-year-old female presented with visual disturbance in her right eye. Five months prior, she was treated with phacoemulsification and intraocular lens exchange surgery of the right eye, and a very severe corneal edema was revealed by slit-lamp examination. We diagnosed PBK and planned DSEK with manual preparation of a donor corneal graft because of the non-availability of a microkeratome or a femtosecond laser. After making the corneal graft using an artificial anterior chamber, crescent knife and cornea dissector, the keratoplasty proceeded using the graft. Three months after surgery, her graft was well-maintained on the right eye. The patient's visual acuity was 0.3, and the corneal endothelial cell count was 1,844/mm².CONCLUSIONS: Manual preparation of the donor corneal graft for DSEK is suitable as a second choice treatment method when the availability of surgical devices is limited.
Anterior Chamber ; Cornea ; Corneal Edema ; Corneal Transplantation ; Descemet Membrane ; Endothelial Cells ; Female ; Humans ; Lenses, Intraocular ; Methods ; Middle Aged ; Phacoemulsification ; Tissue Donors ; Transplants ; Visual Acuity

Anti–glomerular basement membrane (GBM) nephritis is characterized by circulating anti-GBM antibodies and crescentic glomerulonephritis (GN) with deposition of IgG along the GBM. In a limited number of cases, glomerular immune complexes have been identified in anti-GBM nephritis. A 38-year-old female presented azotemia, hematuria, and proteinuria without any pulmonary symptoms. A renal biopsy showed crescentic GN with linear IgG deposition along the GBM and mesangial IgA deposition. The patient was diagnosed as concurrent anti-GBM nephritis and IgA nephropathy. Therapies with pulse methylprednisolone and cyclophosphamide administration were effective. Concurrent cases of both anti-GBM nephritis and IgA nephropathy are rare among cases of anti-GBM diseases with deposition of immune complexes. This rare case of concurrent anti-GBM nephritis and IgA nephropathy with literature review is noteworthy.
Adult ; Anti-Glomerular Basement Membrane Disease ; Antibodies ; Antigen-Antibody Complex ; Azotemia ; Basement Membrane ; Biopsy ; Cyclophosphamide ; Female ; Glomerulonephritis ; Glomerulonephritis, IGA ; Hematuria ; Humans ; Immunoglobulin A ; Immunoglobulin G ; Methylprednisolone ; Nephritis ; Proteinuria

PURPOSE: To explore the progressive change and associated factors of optic disc tilt in young myopic glaucomatous eyes by analyzing long-term follow-up data.METHODS: Optic disc images were obtained from spectral-domain optical coherence tomography enhanced depth imaging from at least five different visits. At each visit, the disc tilt angle (DTA), defined as the angle between the Bruch's membrane opening plane and the optic canal plane, was estimated at the central frame that passes through the optic disc. Glaucoma progression was assessed on the basis of changes noted on serial optic disc and retinal nerve fiber layer photographs or changes in the visual field (VF). A linear mixed effect model was used to assess the influence of parameters (age, sex, baseline and follow-up intraocular pressure, retinal nerve fiber layer thickness, VF mean deviation, axial length, central corneal thickness), and presence of glaucomatous progression upon DTA change.RESULTS: A total of 26 eyes of 26 young myopic primary open-angle glaucoma patients (axial length >24.0 mm; mean age, 25.1 ± 4.0 years; mean follow-up, 3.3 ± 0.9 years) were included. DTA was 7.0 ± 3.4 degrees at baseline and 8.3 ± 3.8 degrees at last visit, which represents a significant difference (p < 0.001). Worse VF mean deviation (p < 0.001) and longer axial length (p = 0.006) were significantly associated with DTA increase.CONCLUSIONS: Young myopic glaucomatous eyes showed progressive optic disc tilting. Progressive optic disc tilting in young myopic glaucomatous eyes may be related to either continuous axial myopic shift or glaucomatous structural change.
Bruch Membrane ; Follow-Up Studies ; Glaucoma ; Glaucoma, Open-Angle ; Humans ; Intraocular Pressure ; Myopia ; Nerve Fibers ; Optic Disk ; Retinaldehyde ; Tomography, Optical Coherence ; Visual Fields

PURPOSE: We report a case of herpes simplex keratitis after Descemet membrane endothelial keratoplasty (DMEK). CASE SUMMARY: A 67-year-old male underwent DMEK in his left eye due to pseudophakic bullous keratopathy. One week after DMEK, re-bubbling was performed due to partial detachment of Descemet's membrane at the corneal periphery. After re-bubbling, the cornea remained clear and the patient's visual acuity gradually improved. Two months after DMEK, the patient presented with mild discomfort and decreased visual acuity. The cornea showed an irregular, narrow dendrite with an epithelial defect and surrounding opacity. After confirming that Descemet's membrane was attached, the patient was started on oral valacyclovir for suspected herpes keratitis. Herpes simplex virus type 1 was eventually identified by polymerase chain reaction. The corneal lesion resolved after three weeks of antiviral treatment. CONCLUSIONS: Similar to penetrating keratoplasty, DMEK can trigger outbreaks of herpes simplex keratitis. Herpes simplex keratitis should remain on the clinician's differential diagnosis for patients who present with a corneal epithelial irregularity and decreased visual acuity following DMEK.
Aged ; Cornea ; Corneal Transplantation ; Dendrites ; Descemet Membrane ; Diagnosis, Differential ; Disease Outbreaks ; Herpes Simplex ; Herpesvirus 1, Human ; Humans ; Keratitis ; Keratitis, Herpetic ; Keratoplasty, Penetrating ; Male ; Polymerase Chain Reaction ; Visual Acuity

C3 glomerulopathy is a renal disorder involving dysregulation of alternative pathway complement activation. In most instances, a membranoproliferative pattern of glomerular injury with a prevalence of C3 deposition is observed by immunofluorescence microscopy. Dense deposit disease (DDD) and C3 glomerulonephritis (C3GN) are subclasses of C3 glomerulopathy that are distinguishable by electron microscopy. Highly electron-dense transformation of glomerular basement membrane is characteristic of DDD. C3GN should be differentiated from post-infectious glomerulonephritis and other immune complex-mediated glomerulonephritides showing C3 deposits.
Complement Activation ; Complement Pathway, Alternative ; Dichlorodiphenyldichloroethane ; Glomerular Basement Membrane ; Glomerulonephritis ; Glomerulonephritis, Membranoproliferative ; Microscopy, Electron ; Microscopy, Fluorescence ; Pathology ; Prevalence

Steroid-resistant nephrotic syndrome (SRNS) has long been a challenge for clinicians due to its poor responsiveness to immunosuppressants, and rapid progression to end-stage renal disease. Identifying a monogenic cause for SRNS may lead to a better understanding of podocyte structure and function in the glomerular filtration barrier. This review focuses on genes associated with slit diaphragm, actin cytoskeleton, transcription factors, nucleus, glomerular basement membrane, mitochondria, and other proteins that affect podocyte biology.
Actin Cytoskeleton ; Biology ; Diaphragm ; Glomerular Basement Membrane ; Glomerular Filtration Barrier ; Immunosuppressive Agents ; Kidney Failure, Chronic ; Mitochondria ; Nephrotic Syndrome ; Podocytes ; Proteinuria ; Transcription Factors

PURPOSE: We sought to investigate the effects of Graves' orbitopathy (GO) and orbital decompression on lamina cribrosa depth (LCD) using spectral-domain optical coherence tomography. METHODS: Forty eyes that underwent orbital decompression to relieve compressive optic neuropathy or correct disfiguring exophthalmos in the context of GO were included. Subjects were imaged with spectral-domain optical coherence tomography before surgery and at 1 and 3 months after surgery, at which the examiner measured the LCD (distance from the anterior surface of the lamina cribrosa to the Bruch membrane opening line) and peripapillary retinal nerve fiber layer thickness. Subjects were divided into two groups—a muscle-dominant group composed of patients who had extraocular muscle enlargement on preoperative orbital computed tomography scan and a fat-dominant group composed of patients who did not show extraocular muscle enlargement on preoperative orbital computed tomography scan—and subgroup analysis was performed. Preoperative and postoperative intraocular pressure, exophthalmos, LCD, and retinal nerve fiber layer thickness were evaluated. RESULTS: At baseline, LCD was remarkably shallower in the muscle-dominant group than in the fat-dominant group (95% confidence interval, p = 0.007). In the muscle-dominant group, LCD showed no definite change after surgery. However, the fat-dominant group showed temporary posterior displacement of the lamina cribrosa at 1-month postoperation that was reversed to baseline at 3 months postoperation (95% confidence interval, p < 0.01). CONCLUSIONS: The lamina cribrosa was anteriorly displaced preoperatively, and its position was nearly unchanged after the surgery, especially in association with extraocular muscle enlargement. An enlarged extraocular muscle could reduce the pressure-relieving effect of orbital decompression around the scleral canal in patients with GO.
Bruch Membrane ; Decompression ; Exophthalmos ; Graves Ophthalmopathy ; Humans ; Intraocular Pressure ; Nerve Fibers ; Optic Nerve ; Optic Nerve Diseases ; Orbit ; Retinaldehyde ; Tomography, Optical Coherence

Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and autosomal dominant ATS. About 80% of patients with ATS have X-linked ATS, which is caused by mutations in the type IV collagen α5 chain gene, COL4A5. Although an 80% mutation detection rate is observed in men with X-linked ATS, some difficulties do exist in the genetic diagnosis of ATS. Most mutations are point mutations without hotspots in the COL4A3, COL4A4, and COL4A5 genes. Further, there are insufficient data on the detection of COL4A3 and COL4A4 mutations for their comparison between patients with autosomal recessive or dominant ATS. Therefore, diagnosis of ATS in female patients with no apparent family history can be challenging. Therefore, in this study, we used whole-exome sequencing (WES) to identify mutations in type IV collagen in 2 girls with glomerular basement membrane structural changes suspected to be associated with ATS; these patients had no relevant family history. Our results revealed de novo c.4688G>A (p.Arg1563Gln) and c.2714G>A (p.Gly905Asp) mutations in COL4A5. Therefore, we suggest that WES is an effective approach to obtain genetic information in ATS, particularly in female patients without a relevant family history, to detect unexpected DNA variations.
Child ; Collagen Type IV ; Diagnosis ; DNA ; Exome ; Female ; Glomerular Basement Membrane ; Hematuria ; Humans ; Kidney Failure, Chronic ; Korea ; Male ; Nephritis ; Nephritis, Hereditary ; Point Mutation

Asthma is a common disorder of the airways characterized by airway inflammation and by decline in lung function and airway remodeling in a subset of asthmatics. Airway remodeling is characterized by structural changes which include airway smooth muscle hypertrophy/hyperplasia, subepithelial fibrosis due to thickening of the reticular basement membrane, mucus metaplasia of the epithelium, and angiogenesis. Epidemiologic studies suggest that both genetic and environmental factors may contribute to decline in lung function and airway remodeling in a subset of asthmatics. Environmental factors include respiratory viral infection-triggered asthma exacerbations, and tobacco smoke. There is also evidence that several asthma candidate genes may contribute to decline in lung function, including ADAM33, PLAUR, VEGF, IL13, CHI3L1, TSLP, GSDMB, TGFB1, POSTN, ESR1 and ARG2. In addition, mediators or cytokines, including cysteinyl leukotrienes, matrix metallopeptidase-9, interleukin-33 and eosinophil expression of transforming growth factor-β, may contribute to airway remodeling in asthma. Although increased airway smooth muscle is associated with reduced lung function (i.e. forced expiratory volume in 1 second) in asthma, there have been few long-term studies to determine how individual pathologic features of airway remodeling contribute to decline in lung function in asthma. Clinical studies with inhibitors of individual gene products, cytokines or mediators are needed in asthmatic patients to identify their individual role in decline in lung function and/or airway remodeling.
Airway Remodeling ; Asthma ; Basement Membrane ; Cytokines ; Eosinophils ; Epidemiologic Studies ; Epithelium ; Fibrosis ; Forced Expiratory Volume ; Humans ; Inflammation ; Interleukin-13 ; Interleukin-33 ; Leukotrienes ; Lung ; Metaplasia ; Mucus ; Muscle, Smooth ; Respiratory Function Tests ; Smoke ; Tobacco ; Vascular Endothelial Growth Factor A