Donohue syndrome and use of continuous subcutaneous insulin pump therapy.

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.

• Authors: Dean Huggard, Tom Stack, Saulius Satas, Clodagh O Gorman
• Journal: BMJ case reports (BMJ Case Rep) Vol. 2015 (Oct 27 2015) ISSN: 1757-790X [Electronic] England
• PMID: 26508115 (Publication Type: Case Reports, Journal Article)
• Copyright: 2015 BMJ Publishing Group Ltd.

Chemical References

• Receptor, Insulin

Topics

• Clinical Decision-Making (ethics)
• Donohue Syndrome (complications, diagnosis, drug therapy)
• Humans
• Hyperglycemia (drug therapy, etiology)
• Infant, Newborn
• Insulin Infusion Systems
• Male
• Mutation
• Palliative Care
• Prognosis
• Quality of Life
• Receptor, Insulin (genetics)