Hyperphosphataemic rickets: a new variant.

Burosumab: A new drug to treat hypophosphatemic rickets.

Burosumab (KRN23) is a fully human monoclonal IgG1 antibody that binds excess fibroblast growth factor 23 (FGF23) and has been successfully tested in clinical trials in children with X-linked hypophosphatemic rickets. A report enclosed in this letter gives a brief review of current knowledge on burosumab therapy.

Cystinuria: a new genetic variant.

1. A family is reported with an unusual type of cystinuria. 2. The propositus presented with a cystine renal stone; the renal tubular reabsorption of cystine was grossly abnormal but the tubular reabsorption of ornithine, lysine and arginine was only slightly less than normal. 3. One of the children of the propositus escreted cystine and lysine in increased amounts typical of type II heterozygo...

A new variant of blepharospasm.

Ten patients who were unable to initiate or sustain eye opening in the absence of overt spasm of the orbicularis oculi, were investigated. In five, the problem was isolated. Three had Parkinson's disease and two progressive supra-nuclear palsy for between one to six years before the eye opening difficulty developed. The clinical features and electrophysiological investigation suggested that the...

Rickets

A Study of Rickets ;

The Archives of Disease in Childhood, although it became the official journal of the British Paediatric Association (BPA), was first published two years before the founding of the BPA. Appropriately, the senior author of this paper on rickets, Dr Donald Paterson, played a leading part in the founding of the BPA and was its first Secretary. He was a Canadian who came to Edinburgh University to s...