Wolfram syndrome
From IDWiki
Definition
- Congenital syndrome characterized by diabetes mellitus and optic atrophy, along with other associated issues
- Also known as DIDMOAD
- Diabetes insipidus (central)
- Diabetes mellitus (non-autoimmune type 1)
- Optic atrophy
- Deafness
- There is also Type 2 Wolfram syndrome
- GI ulcers with resulting bleeds
- No DI
Pathophysiology
- WFS1 mutation (encodes Wolframin protein)
- Transmembrane protein present in many systems
- Pancreas, brain, spinal cord, heart, muscle >> liver, kidneys
- Putative functions include membrane trafficking, secreation, processing, and regulation of ER calcium homeostasis
Epidemiology
- Prevalence 1/750,000; highest in Lebanese (1/68,000)
- DM
- Insulin-dependent, T1DM-style from destruction of pancreatic cell
- Presents in childhood
- 1/150 cases of T1DM are Wolfram syndrome
Clinical Manifestations
- Diabetes mellitus presents in childhood
- Diabetes insipidus is central and presents in teenage years or early adulthood
- Hypogonadism M>F
- Hypothalamic pituitarism: GH deficiency, cotricotropin deficiency
