Temporal macular thinning associated with X-linked Alport syndrome.

Importance: Optical coherence tomography (OCT) findings of temporal macular thinning are important in the diagnosis and prognosis of X-linked Alport syndrome (XLAS).

Objectives: To report OCT findings and severity of temporal macular thinning in a cohort with XLAS and to correlate these and other ocular findings with mutation genotype.

Design: Patients with XLAS underwent genotyping for COL4A5 mutations and complete eye examinations with retinal imaging using spectral domain OCT and fundus photography.

Genotype-phenotype correlation in X-linked Alport syndrome.

Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS). Understanding the correlation between clinical manifestations and the underlying mutations adds prognostic value to genetic testing, which is increasingly available. Our aim was to determine the association between genotype and phenotype in 681 affected male participants with XLAS from 175 US families.

Cost-effective dialysis for the developing world.

Introduction: Dialysis is an effective treatment for end-stage renal disease, but it is available to only approximately half of those who need it in the world.

Methods: Two prototype passive-flow dialysate delivery systems were constructed.

Results: Each dialysate delivery system provided a flow of dialysate in the range of 200-300 mL/minute.

Reification of abstract concepts to improve comprehension using interactive virtual environments and a knowledge-based design: a renal physiology model.

Several abstract concepts in medical education are difficult to teach and comprehend. In order to address this challenge, we have been applying the approach of reification of abstract concepts using interactive virtual environments and a knowledge-based design. Reification is the process of making abstract concepts and events, beyond the realm of direct human experience, concrete and accessible to teachers and learners.

Distribution of type IV collagen in the cochlea in Alport syndrome.

Objective: To determine the distribution of alpha1, alpha3, and alpha5 chains of type IV collagen in the cochlea in Alport syndrome.

Design: Case-control study.

Patients: Two patients with sensorineural hearing loss due to Alport syndrome.

The clinical features of thin basement membrane nephropathy.

Thin basement membrane nephropathy (TBMN) is a common, lifelong condition affecting the kidneys that is characterized by microscopic glomerular hematuria, minimal or no proteinuria, and normal renal function. It often is discovered incidentally, and usually has an excellent prognosis. Many cases are familial and show autosomal-dominant inheritance.

Temporal bone histopathology in alport syndrome.

Objective: To determine the histopathologic abnormalities within the cochlea in Alport syndrome.

Background: Alport syndrome, which manifests as hereditary nephritis and sensorineural hearing loss (SNHL), is caused by mutations in genes that code for the proportional, variant3, proportional, variant4, and proportional, variant5 chains of type IV collagen. The proportional, variant3, proportional, variant4, and proportional, variant5 chains of type IV collagen are present in the basement membrane of the organ of Corti.