Glomerular basement membrane (GBM) appearance and patterns of hearing loss in women with Alport syndrome. Glomerular basement membrane (GBM) appearance.

Slides:

Advertisements

Similar presentations

A. B. C. < × >.

Advertisements

11 m with nephrotic range proteinuria

Thin Glomerular Basement Membranes

Volume 63, Issue 2, Pages (February 2003)

Retinal atrophy associated with FSGS in a patient with MELAS syndrome

Volume 86, Issue 6, Pages (December 2014)

Treatment of Alport syndrome: beyond animal models

Intraosseous temporal bone meningioma in a 45-year-old woman who presented with left-sided hearing loss and tinnitus. Intraosseous temporal bone meningioma.

Volume 54, Issue 6, Pages (January 1998)

Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome Mark Buzza, Diane Wilson, Judy Savige Kidney.

Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport's Syndrome Fang Wang, Dan Zhao, Jie.

Volume 79, Issue 1, Pages (January 2011)

C3 glomerulopathy: what's in a name?

Volume 54, Issue 2, Pages (August 1998)

Volume 66, Issue 1, Pages (July 2004)

AJKD Atlas of Renal Pathology: Alport Syndrome

A, Axial CT in a 15-year-old girl with persistent conductive hearing loss poststapedectomy shows a small lucency in the left fissula antefenestrum (thin.

The glomerular filter: Biologic and genetic complexity

Conceptual model of the natural history of diabetic kidney disease.

Retinal abnormalities.

Parathyroid hormone (PTH) levels by Dialysis Outcomes and Practice Patterns Study (DOPPS) phase and selected patient characteristics. Parathyroid hormone.

Thin basement membrane nephropathy

Volume 54, Issue 3, Pages (September 1998)

Transplant glomerulopathy as a cause of late graft loss

Three-year cumulative incidence of a gout diagnosis presented by level of kidney function and sex. Three-year cumulative incidence of a gout diagnosis.

Red cell traverse through thin glomerular basement membranes

Thirty-day survival curves for the rapid versus slow correction rate groups are not significantly different. Thirty-day survival curves for the rapid versus.

Alport syndrome–like basement membrane changes in frasier syndrome: an electron microscopy study Shu-ichi Ito, MD, Hiroshi Hataya, MD, Masahiro Ikeda,

Collapsing glomerulopathy.

Making the diagnosis of Alport's syndrome

Red cell traverse through thin glomerular basement membrane

Volume 60, Issue 2, Pages (August 2001)

Representative transaxial thin computed tomography (CT) sections at mid, mid-low, and low levels of the heart from a control subject (left) showing normal.

Distribution of podocyte gene mutations in patients with genetic congenital nephrotic syndrome (CNS) and steroid–resistant nephrotic syndrome (SRNS). Distribution.

A glomerulus from a patient who developed nephrotic syndrome while receiving a nonsteroidal anti-inflammatory drug for arthritis. A glomerulus from a patient.

Age-related prevalence of left ventricular hypertrophy (LVH) in 507 children on CPD using different reference systems. Age-related prevalence of left ventricular.

A, Axial CT in a 41-year-old man with vertigo and complete sensorineural hearing loss in the left ear after prior stapedectomy show focal hyperattenuation.

Transmission electron microscopy of a representative glomerular capillary enumerating pathologic changes associated with preeclampsia: 1, endothelial cell.

Calcifications in autosomal dominant polycystic kidneys.

Conditions within the kidney that are conducive to C activation.

Glomerulus from a patient with primary membranous nephropathy showing the pathognomonic “spikes” of basement membrane projecting from the outer surface.

Pathogenesis of minimal change disease: hypotheses.

Characteristic ocular features in women with Alport syndrome.

More women are affected than men in X-linked Alport syndrome.

Dana V. Rizk, David G. Warnock Kidney International

Ca2+ infusion rates during all three protocol versions.

The risk of siblings being affected depends on the mode of inheritance and the gender of the affected parent (in X-linked disease). The risk of siblings.

A loading dose decreases the time to achieve the target concentration.

Unmasking a unique glomerular lesion

These data are derived from 21,374 patients with any form of glomerular disease identified in renal biopsy specimens evaluated by the University of North.

Thrombotic microangiopathy after hematopoietic cell transplantation.

Electron micrograph of chronic primary membranous nephropathy showing discontinuous, electron-dense deposits representing aggregates of PLA2R–anti-PLA2R.

Volume 65, Issue 5, Pages (May 2004)

Distribution of percent consistent facility aspirin use.

Immunohistochemical and immunogluorescence analysis of renal biopsies showing significant C5b-9, C4d and C3c deposition but almost absent Bb deposition.

A glomerulus exhibits mesangiolysis, endothelial denudation, red blood cell congestion, and glomerular basement membrane duplication in this example of.

Absolute renal biopsy diagnosis frequencies of the most common glomerular disease subtypes according to patient age category. Absolute renal biopsy diagnosis.

Analysis of secreted proteins in the discovery panel.

Corneal abnormalities.

Lens abnormalities. Lens abnormalities. (A) Lenticonus appearance on slit-lamp examination showing an anterior dimple or oil droplet (arrow) in a man with.

Annual prevalence of proteinuria, hematuria, and combined proteinuria/hematuria on first screening in junior high school children in Tokyo, Japan between.

Grayscale ultrasonographic image in CKD

Grayscale ultrasonographic image and resistive index (RI) in severe ischemic acute tubular necrosis. Grayscale ultrasonographic image and resistive index.

Direct immunofluorescence showing granular mesangial staining for IgA in the expanded mesangium of the biopsy of patient 4, who had underlying diabetic.

Grayscale ultrasonographic images of hydronephrosis due to obstructing stones. Grayscale ultrasonographic images of hydronephrosis due to obstructing stones.

Relative renal biopsy diagnosis frequencies of the most common glomerular disease subtypes according to patient age category and typical mode of clinical.

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome Taro Akihisa, Masayo Sato, Yoshie.

Organ quality (KDPI) of unilaterally discarded, deceased donor kidneys stratified by discard type (n=7625 kidneys), 2000–2015. Organ quality (KDPI) of.

A, Axial CT in an 80-year-old man with sensorineural hearing loss shows deep intrusion into the vestibule (arrow). A, Axial CT in an 80-year-old man with.

Distribution of facility mean treatment time, by DOPPS region and phase. Distribution of facility mean treatment time, by DOPPS region and phase. Restricted.

Presentation transcript:

Glomerular basement membrane (GBM) appearance and patterns of hearing loss in women with Alport syndrome. Glomerular basement membrane (GBM) appearance and patterns of hearing loss in women with Alport syndrome. (A) Electron micrograph of kidney biopsy from a 40-year-old woman demonstrating a variably thinned glomerular capillary basement membrane, <200 nm in places, but without multilamellation, splitting, or GBM microparticles. The appearance was indistinguishable from thin membrane nephropathy and was misdiagnosed until recent genetic testing confirmed X-linked Alport syndrome; (B) audiometry 30 years later (age 70) from the same woman with X-linked Alport syndrome due to a R373× mutation in COL4A5 demonstrating a high tone sensorineural hearing loss in the left ear (above 6000 Hz); and (C) audiometry from a 50-year-old with X-linked Alport syndrome demonstrating a midtone sensorineural loss in the right ear. Judy Savige et al. CJASN 2016;11:1713-1720 ©2016 by American Society of Nephrology