BACKGROUND Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals pre...

Sir If the adrenalin-mediated side-effects of nebulized Salbutamol were entirely determined by its systemic absorption, one would have expected to have demonstrated a significant correlation between pre-treatment, peak expiratory flow rate (PEFR) and hypokalaemia. In our study, however, patients 5, 17 and 19 failed to respond in a manner that was in keeping with this postulation. Similarly, the...

1. Insulin simultaneously causes hypokalaemia and antinatriuresis, and it has been suggested that the two effects are tightly coupled. Whether these actions are preserved in patients with essential hypertension is not known. 2. Eight hypertensive patients and eight normotensive control subjects were studied before and after the ingestion of 75 g of glucose. Despite similar glycaemic profiles, t...

Phosphorus is an essential substance in our body, and hypophosphataemia (HP) is well-described in rickets, refeeding syndrome, diabetic ketoacidosis (DKA), and in chronic alcohol-abuse. However, to our knowledge, HP among severely-malnourished children has not been studied in detail, and information on prevalence, severity, and treatment is scarce. Currently, there are only a few published case...

A 5 month old boy died after fever, persistently raised blood pressure, and hypokalaemia. A disorder of cortisol metabolism caused by 11 beta-hydroxysteroid dehydrogenase deficiency was detected retrospectively.