Serum- and glucocorticoid-regulated kinase (SGK1) gene and blood pressure.

The serum- and glucose-regulated kinase (SGK1) gene has recently been identified as an important aldosterone-induced protein kinase that mediates trafficking of the renal epithelial Na(+) channel (ENaC) to the cell membrane. Thus, SGK1 is an appealing candidate for blood pressure regulation and possibly essential hypertension. To test this hypothesis, we recruited monozygotic (126 pairs) and dizygotic (70 pairs) normotensive twin subjects and parents of dizygotic twins.

Holoprosencephaly and low molecular weight proteinuria: the human homologue of murine megalin deficiency.

We encountered a child with holoprosencephaly, pulmonary insufficiency, absent circulating vitamin D metabolites, mild albuminuria, and urinary excretion of vitamin D-binding protein. The child displayed a phenotype highly reminiscent of that observed in mice genetically deficient for megalin, a member of the low-density lipoprotein receptor superfamily. Only the Guthrie card was available from the child; the DNA sufficed for a limited haplotype analysis.

Association of a uteroglobin polymorphism with rate of progression in patients with IgA nephropathy.

Uteroglobin gene-disrupted mice develop a nephritis very similar to immunoglobulin A (IgA) nephropathy. Megsin codes for a protein overexpressed in mesangium in patients with IgA nephropathy. Both are candidate genes that might have variants associated with an accelerated progression in patients with IgA nephropathy.

Circadian blood pressure changes and cardiac abnormalities in IgA nephropathy.

The absence of diurnal blood pressure rhythm is characteristic of patients with chronic glomerulonephritis already before they develop hypertension. The prognostic importance and possible target organ-damaging effect of the absence are unknown. Simultaneously, 24-hour ambulatory blood pressure monitoring and echocardiographic investigations were done in 12 normotensive and 38 hypertensive IgA nephropathy patients.