Donohue syndrome and use of continuous subcutaneous insulin pump therapy. (27th October 2015)

• Record Type: Journal Article
• Authors: Huggard, Dean; Stack, Tom; Satas, Saulius; O Gorman, Clodagh
• Is Part Of: BMJ case reports. Volume 2015
• Publication Date: 2015-10-27
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2015-210019
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Donohue syndrome is a rare autosomal recessive condition caused by severe loss-of-function mutations in the insulin receptor (INSR) gene. The diagnosis is made on clinical, biochemical and genetic grounds. Mutations are found on chromosome 19p13.2, and code for mutations in the INSR gene. Treatment is challenging and often unsuccessful, and relies on maintaining normoglycaemia and avoiding fasting; in some patients, recombinant human insulin-like growth factor (rhIGF-1) has been trialled. The prognosis is poor, with most babies dying in infancy. Ethically, it is important to consider the benefit versus burden of treatment, the quality of life of the surviving patient and the parents' wishes, when making decisions regarding withholding or withdrawing care.