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

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

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: To report a case of corneal edema caused by an iatrogenic lidocaine injection into the corneal stroma created while performing a local anesthetic (lidocaine) injection into the eyelid for a blepharoplasty procedure. CASE SUMMARY: A 15-year-old female visited our clinic after the onset of severe pain and decreased visual acuity while receiving a local anesthetic injection in the upper blepharon for a blepharoplasty procedure. At the first clinical visit, visual acuity was hand motion and an accurate anterior chamber examination was difficult because of corneal edema. The Seidel test was negative. On corneal optical coherence tomography, the corneal thickness was 1,580 µm without any sign of Descemet's membrane detachment. We prescribed 5% NaCl four times a day and prednisolone acetate eight times a day. On the next day after injury, the corneal edema was significantly improved (central corneal thickness: 660 µm), and Descemet's membrane detachment was still not observed. One week after injury, the naïve visual acuity was 20/20, the central corneal thickness was 560 µm, and the endothelial cell count was 3,260 cells/cm². Three weeks after injury, the corneal edema was fully resolved and only slight temporal corneal haziness remained. After 2 months, the cornea was clear without any subjective discomfort. CONCLUSIONS: Corneal edema without Descemet's membrane detachment can be resolved spontaneously without aggressive treatment such as gas or air injection. However, endothelial cell count and corneal opacity need to be monitored on follow up exam. This clinical experience suggests that severe corneal edema in anterior stromal layer could be spontaneously resolved without severe complication.
Adolescent ; Anesthesia, Local ; Anterior Chamber ; Blepharoplasty ; Cornea ; Corneal Edema ; Corneal Opacity ; Corneal Stroma ; Descemet Membrane ; Edema ; Endothelial Cells ; Eyelids ; Female ; Follow-Up Studies ; Hand ; Humans ; Lidocaine ; Prednisolone ; Tomography, Optical Coherence ; Visual Acuity

PURPOSE: To develop software to measure the shortest radius in curvature of Bruch's membrane from optical coherence tomography (OCT), and then to apply it to various types of eyes. METHODS: Macular OCT images consisting of 12 images of 9 mm radial scans were studied. The horizontal to vertical pixel ratios were changed to 1:1, and Bruch's membrane was marked automatically on each image. Software to measure the radius of Bruch's membrane curvature was developed. The shortest radius on each image was defined as r (mm) and the average r of 12 images was defined as R (mm). The reciprocal of R was multiplied by the constant, 337.5, which was defined as the posterior staphyloma (PS) index. RESULTS: The OCT images of five eyes were analyzed by the software, which could calculate the curvature of Bruch's membrane automatically. The PS indices were 12.7, 23.7, and 66.4 in eyes without refractive error (Case I), in the high myopic group without posterior staphyloma (Case II), and in the high myopic group with posterior staphyloma (Case V), respectively. The PS index gradually increased according to aging in a 37-year-old patient (Case IV) with mild staphyloma from 34.6 to 39.5 over 4 years. CONCLUSIONS: PS index is a novel parameter to reflect the level of posterior staphyloma, but further studies are needed to apply it to clinical patients.
Adult ; Aging ; Bruch Membrane ; Humans ; Myopia ; Radius ; Refractive Errors ; Tomography, Optical Coherence