Wolfram syndrome

Wolfram syndrome
Other namesDiabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Photographic image of the eye showing optic atrophy without retinopathy; from Manaviat et al., 2009[1]
SpecialtyMedical genetics, neurology, endocrinology 

Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as childhood to adult years (2–65 years old). There is a 25% recurrence risk in children.[2][3][4][5][6]

It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. In 1995, diagnostic criteria were created based on the profiles of 45 patients.[2] The disease affects the central nervous system (especially the brainstem). There are two subtypes – Wolfram Syndrome Type 1 (WFS1) and Wolfram Syndrome Type 2 (WFS2), that are distinguished by their causative gene.

Fewer than 5,000 people in the US have this disease, with WFS1 being more common than WFS2.[7]

  1. ^ Manaviat MR, Rashidi M, Mohammadi SM (December 2009). "Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports". Cases Journal. 2: 9355. doi:10.1186/1757-1626-2-9355. PMC 2804005. PMID 20062605.
  2. ^ a b Urano F (January 2016). "Wolfram Syndrome: Diagnosis, Management, and Treatment". Current Diabetes Reports. 16 (1): 6. doi:10.1007/s11892-015-0702-6. PMC 4705145. PMID 26742931.
  3. ^ Pallotta MT, Tascini G, Crispoldi R, Orabona C, Mondanelli G, Grohmann U, et al. (July 2019). "Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives". Journal of Translational Medicine. 17 (1): 238. doi:10.1186/s12967-019-1993-1. PMC 6651977. PMID 31337416.
  4. ^ Cardona M, Ardila A, Gómez JD, Román-González A (2023-07-31). "Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump". AACE Clinical Case Reports. 9 (4): 125–127. doi:10.1016/j.aace.2023.05.002. PMC 10382610. PMID 37520764.
  5. ^ "Wolfram syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2024-07-26.
  6. ^ Delvecchio M, Iacoviello M, Pantaleo A, Resta N (2021-04-30). "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations". International Journal of Environmental Research and Public Health. 18 (9): 4796. doi:10.3390/ijerph18094796. ISSN 1661-7827. PMC 8124476. PMID 33946243.
  7. ^ "Wolfram syndrome – About the Disease – Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2024-07-26.
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