Morbidity and mortality in the Wolfram syndrome

• Published in: Diabetes care Vol. 18; no. 12; pp. 1566 - 1570
• Main Authors: KINSLEY, B. T, SWIFT, M, DUMONT, R. H, SWIFT, R. G
• Format: Journal Article
• Language: English
• Published: Alexandria, VA American Diabetes Association 01-12-1995
• Subjects: Adolescent; Adult; Age Factors; Associated diseases and complications; Biological and medical sciences; Child; Congenital Abnormalities - epidemiology; Diabetes Mellitus, Type 1 - epidemiology; Diabetes Mellitus, Type 1 - mortality; Diabetes. Impaired glucose tolerance; Diabetic Ketoacidosis - epidemiology; Diabetic Ketoacidosis - physiopathology; Diagnosis, Differential; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Humans; Life Tables; Medical Records; Medical sciences; Morbidity; Retrospective Studies; United States - epidemiology; Wolfram Syndrome - epidemiology; Wolfram Syndrome - mortality; Wolfram Syndrome - physiopathology; United States; Endocrinopathy; Human; Immunopathology; Nervous system diseases; Optic nerve; Mortality; Autoimmune disease; Bilateral; Epidemiology; Morbidity; Eye disease; Cranial nerve disease; Association; Atrophia; Insulin dependent diabetes; Child
• ISSN: 0149-5992; 1935-5548
• DOI: 10.2337/diacare.18.12.1566

Morbidity and mortality in the Wolfram syndrome.
B T Kinsley ,
M Swift ,
R H Dumont and
R G Swift
Joslin Diabetes Center, New England Deaconess Hospital, and Harvard Medical School, Boston, Massachusetts, USA.
Abstract
OBJECTIVE: To determine the major causes of morbidity and mortality in the autosomal recessive Wolfram syndrome, which is
defined by diabetes and bilateral progressive optic atrophy with onset in childhood or adolescence. RESEARCH DESIGN AND METHODS:
We abstracted and reviewed the medical records of 68 confirmed cases of Wolfram syndrome identified through a nationwide survey
of endocrinologists, ophthalmologists, institutes, and homes for the blind. We also reviewed all available autopsy records.
RESULTS: The most common causes of morbidity and mortality were the neurological manifestations of this syndrome and the complications
of urinary tract atony. There was a lower frequency of diabetic ketoacidosis, no histologically proven diabetic glomerulosclerosis,
and less severe, more slowly progressive, diabetic retinopathy than in classic type I diabetic patients. Mortality in Wolfram
syndrome is much higher than in type I diabetes; 60% of Wolfram syndrome patients die by age 35. Recognition of these clinical
differences from classic type I diabetes is important for the proper management of Wolfram syndrome patients. CONCLUSIONS:
Identification of Wolfram syndrome patients among all diabetic patients presenting in childhood or adolescence is important
because the management of patients with this syndrome is different from that of patients with classic type I diabetes.