Over the past few years, it has become apparent that hyperaldosteronism is far commoner than was once suspected and screening of unselected patients with hypertension reveals that about 5-10% of patients have primary hyperaldosteronism. In patients with resistant…
Currently there is no good treatment for the most common inherited cause of ESRD, adult polycystic kidney disease. There have been a number of high profile trials in ADPKD in recent years. These trials have endeavored to show…
Cystinosis is an autosomal recessive disease caused by a mutation in CTNS, which encodes the lysosomal transporter of cystine. This leads to intracellular cystine accumulation which leads to renal, neurological and cardiac damage. The treatment for this condition…
Cystinosis is an autosomal recessive disease caused by a mutation in CTNS, which encodes the lysosomal transporter of cystine. Without this, cystine gradually accumulates in cells causing progressive damage. The commonest kind is “nephropathic cystinosis” which is the…
Just a quick piece to review the inheritance pattern of Fabry’s disease, a relatively rare, but under-recognized cause of End-Stage Kidney Disease in adults. Fabry’s disease is an X-linked recessive disease, caused by a defect in the gene…
Over the past decade, controversy about whether ANCA is itself directly pathogenic has largely abated, primarily based on convincing animal models of small vessel vasculitis in mice and rats mediated by MPO ANCA. But as this issue is…
A paradigm of modern genetic studies, such as GWAS, is that there is a natural balance to allelic variation, with common variation in the population conferring mild disease risk and, conversely, genes of strong disease effect being rare….
African-Americans (AA) have higher rates of kidney disease than Americans of Caucasian ethnicity. Two years ago the MHY9 (non-muscle myosin heavy chain 9) locus on chromosome 22 has been associated with glomerulosclerosis and non-diabetic end stage renal disease…
The best answer is D. Lifton et al. described a single gene mutation on the hormone-binding domain of the mineralocorticoid receptor (MCR). Individuals with this missense mutation develop early-onset hypertension with characteristic low renin and aldosterone levels. The…
