Climb National Information Centre for Metabolic Diseases by mikesanye


									Climb National Information Centre for
        Metabolic Diseases

Wolfram Syndrome

Other names that are used for this condition are:
   • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness
   • WFS

Wolfram Syndrome is a rare multi-system disorder that is present at birth (congenital). It is caused by
a defect in the gene that is responsible for the production of a protein known as wolframin. The
disorder is characterised by Diabetes Insipidus (a rare condition in which the individual produces
large amounts of dilute urine and is excessively thirsty), diabetes mellitus (the usual type of diabetes
in which there is a lack of the pancreatic hormone, insulin), blindness due to the degeneration of the
optic nerve (optic atrophy) and deafness. For this reason, the disorder is sometimes referred to as

Treatment of this disorder is mainly based on the symptoms. Thiamine may be given to control blood
problems such as anaemia and may also decrease their need for insulin. Diabetes Insipidus may be
controlled with hormone therapy or medications containing the vasopressin hormone. Lesions found
in this form of diabetes may be removed. Desmopressin Nasal spray has been approved as a
treatment for Diabetes Insipidus. Diabetes mellitus may be controlled with insulin injections and an
exercise and diet programme. Frequent testing for blood sugar levels is also needed.
Desferrioxamine may be used to remove excess iron in individuals with Sideroblastic Anaemia. In
some cases pyridoxine may also be used. Individuals with Thrombocytopenia may require blood
transfusions of normal platelets. Neutropenia may require treatment with antibiotics to manage
infections. Neupogen has been approved for the treatment of Chronic Neutropenia. Laser treatment
may be of benefit for individuals with Diabetic Retionpathy, although control of diabetes can help to
reverse the effects.

This information is fully sourced and referenced, for more detailed information and references please contact
CLIMB by email, letter or telephone.


This information about metabolic diseases is provided by Climb and is intended for educational purposes only. It
should not be used for diagnostic or treatment purposes. Should you require more detailed information please
contact Climb by email ( or by telephone (0800 652 3181). For specific medical information
regarding a particular disease or individual please contact your GP or Paediatrician. Climb accepts no
responsibility for any errors or omissions nor does Climb assume any liability of any kind for the content of any
information contained within this summary or any use that you may make of it.

                Climb National Information Centre for Metabolic Diseases

             Climb Building, 176 Nantwich Road, Crewe, Cheshire, CW2 6BG, UK

                              Freephone: 0800 652 3181
           Climb is the only charity in the United Kingdom that provides support on all
                             Metabolic Diseases with links worldwide

                    Registered Charity No. 1089588. Company Limited by Guarantee No. 4267454

                                                                                               Updated 12/06/08

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