Donohue syndrome and use of continuous subcutaneous insulin pump therapy.
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.
Department of Neonatology, University Hospital Limerick, Limerick, Ireland.
Dean
D
Huggard
Department of Neonatology, University Hospital Limerick, Limerick, Ireland.
Tom
T
Stack
Department of Neonatology, University Hospital Limerick, Limerick, Ireland.
Saulius
S
Satas
Department of Paediatrics, The Children's Ark, Limerick, Ireland Graduate Entry Medical School, Centre for Interventions in Infection, Inflammation & Immunity (4i), Limerick, Ireland.
Clodagh O
CO
Gorman
D000066491:Clinical Decision-Making / Q000941:ethics; D056731:Donohue Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D006801:Humans; D006943:Hyperglycemia / Q000188:drug therapy / Q000209:etiology; D007231:Infant, Newborn; D007332:Insulin Infusion Systems; D008297:Male; D009154:Mutation; D010166:Palliative Care; D011379:Prognosis; D011788:Quality of Life; D011972:Receptor, Insulin / Q000235:genetics
D011972:Receptor, Insulin