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Rare disorders presenting in the diabetic clinic: an example using audit of the NSCT adult Alström clinics
Author(s) -
Paisey RB,
Barrett T,
Carey CM,
Hiwot T,
Cramb R,
White A,
Seymour R,
Bunce S,
Waterson M,
Rockett C,
Vogler K,
Williams K,
Parkinson K,
Kenny T
Publication year - 2011
Publication title -
practical diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.205
H-Index - 24
eISSN - 2047-2900
pISSN - 2047-2897
DOI - 10.1002/pdi.1631
Subject(s) - medicine , ciliopathy , pediatrics , diabetes mellitus , insulin resistance , context (archaeology) , endocrinology , paleontology , biochemistry , chemistry , biology , gene , phenotype
Alström syndrome, a rare autosomal recessive ciliopathy (OMIM 203800), is classically diagnosed on the basis of childhood onset cone rod retinal dystrophy, sensorineural hearing loss and obesity with severe insulin resistance. In addition, in infancy acute reversible cardiomyopathy occurs in 30% of cases, and type 2 diabetes develops in most cases in young adulthood. We describe the audit of 11 cases of Alström syndrome diagnosed as adults, eight in the context of diabetes clinics who were referred to the National Specialised Commissioning Team (NSCT) adult Alström clinic at Torbay Hospital. All have severe insulin resistance, dyslipidaemia and a variable degree of cardiac, renal and musculoskeletal involvement – features not associated with a unifying diagnosis until referred to their local diabetic clinics in eight of them. Obesity and young onset type 2 diabetes are increasing and it is important to be aware that some cases will have associated rare recessive conditions such as Alström syndrome, Wolfram syndrome, lipodystrophies, Bardet Biedl syndrome (LMBBS), Prader Willi syndrome or occult cystic fibrosis. Early recognition of Alström families will facilitate prompt recognition and treatment of comorbidities and genetic counselling. Copyright © 2011 John Wiley & Sons.