Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.

This study highlights the importance of a combined diagnostic approach in the diagnosis of rare diseases, such as adult-onset genetic FSGS. We present three adult patient cases evaluated with kidney biopsy for proteinuria, chronic kidney disease, and hypertension, which were suggestive of adult-onset genetic FSGS. Renal biopsy samples and formalin-fixed, paraffin-embedded fetal kidneys were evaluated using standard light microscopical stainings, direct immunofluorescence on cryostat sections, and electron microscopy.

The value of PLA2R antigen and IgG subclass staining relative to anti-PLA2R seropositivity in the differential diagnosis of membranous nephropathy.

Background: The diagnostic performance of PLA2R and IgG subclass staining of kidney biopsies relative to anti-PLA2R seropositivity in the differentiation of primary and secondary membranous nephropathy (pMN, sMN) was examined. Besides PLA2R staining - which has a lower specificity than anti-PLA2R antibody serology - there is insufficient knowledge to decide which IgG1-4 subtype immunohistological patterns (IgG4-dominance, IgG4-dominance/IgG1-IgG4-codominance or IgG4-dominance/IgG4-codominance with any IgG subtype) could be used to distinguish between pMN and sMN.

Methods: 87 consecutive Hungarian patients (84 Caucasians, 3 Romas) with the biopsy diagnosis of MN were classified clinically as pMN (n = 63) or sMN (n = 24).

Mutation-Related Oligomeganephronia in a Young Adult Patient.

Oligomeganephronic hypoplasia, commonly referred to as oligomeganephronia (OMN), is a rare pediatric disorder characterized by small kidneys. Histologically a paucity of nephrons is observed which show compensatory enlargement. Hyperfiltration injury leads to end-stage kidney disease.

Prostaglandin postscript: a personal reflection.

The long and arduous process that led to the development of ocular hypotensive prostaglandin derivatives over the past three decades has been reviewed several times. In this "postscript" to the second Survey of Ophthalmology supplement devoted to the ocular hypotensive effects of prostaglandin derivatives, only two aspects of this new approach to the medical management of glaucoma are discussed: 1) The implication of the observed prostaglandin-induced increase in iridial pigmentation with respect to the understanding of the role of prostaglandins and of iridial melanocytes in the protection against the damaging effects of light, and in the maintenance of normal intraocular microenvironment; and 2) The rationale behind the use of a combined formulation of a prostaglandin derivative and a beta-blocker for the protection against increased intraocular pressure. The need to consider not only target pressure, but also target mechanisms, in the selection of medical therapy regimen for any given glaucoma patient is emphasized.