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Wolfram氏症候群

Name of disease:

Wolfram Syndrome

ICD-10 diagnosis code:

E13.8

Causes:

Most cases of Wolfram syndrome are associated with genetic causes, and it can run in families in autosomal recessive pattern. Abnormalities is associated with the mutation of WFS1 or WFS2 gene. Most cases of Wolfram syndrome are sporadic, which means they occur in people with no history of the disorder in their family.

Mode of inheritance:

Wolfram syndrome cases are either de novo or inherited from parents in autosomal recessive pattern.

Prevalence:

1/ 500,000

Diagnosis:

Diagnosis of Wolfram syndrome is difficult because doctors may unaware that various symptoms and complaints are related The diagnosis is based on clinical symptoms findings: diabetes mellites, optic atrophy and hearing loss Molecular genetic testing for WFS1 or WFS2 gene mutation can also be used to confirm diagnosis or check if a person is a carrier.

Age of onset:

Childhood to adolescence

Common signs and symptoms:

Diabetes mellitus Diabetes insipidus Optic atrophy Deafness Dehydration Dryness of moths Urinary tract abnormalities Neurological symptoms such as poor smell and balance Psychiatric and behavioral problems such as depression, anxiety and fatigue

Available treatments (medicinal and non-medicinal):

Treatment of Wolfram syndrome is mainly symptomatic and supportive. When diabetes mellitus is present, injection of insulin is used while oral or intranasal desmopressin is used when diabetes insipidus is present.

Disease management tips:

Management of Wolfram syndrome requires multidisciplinary effort to manage the symptoms of conditions. Patients with hearing loss may need hearing aids or cochlear implants as well as accommodations for hearing loss. Occupational therapy might be used for patients with hearing loss too. Regular evaluation of bladder is important for patients to detect whether the patients have poor bladder emptying. Since patients may show psychological and behavioral problems, psychological evaluation and care are important for many, particularly with school performance issues.

References:

https://rarediseases.org/rare-diseases/wolfram-syndrome/ https://medlineplus.gov/genetics/condition/wolfram-syndrome/

Other useful websites:

Patient Groups: Wolfram Syndrome UKhttps://wolframsyndrome.co.uk Worldwide Society for Wolfram Syndrome Familieshttp://www.didmoad.org