Apparent Mineralocorticoid Excess: Research as an Art Form

Excerpt

This issue of the Journal contains a remarkable paper from China, entitled “Apparent Mineralocorticoid Excess caused by Novel Compound Heterozygous Mutations in HSDB11 and Characterised by Early onset Hypertension and Hypokalemia”. In the very first line of the Abstract the authors begin with “Apparent Mineralocorticoid Excess is an ultra rare Autosomal Recessive Disorder…”, and continue to document their case, number 101 in the world over 30 years. For many readers of the journal, a prevalence of ~3 cases per year, often but not always the product of a consanguineous union, may be something to skip over, or to scan read at best. This would be a mistake for a series of reasons, which I will address later in this editorial review: first, however, the back story. …