Children's Needs and Facing Adulthood

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Dr Ed Wraith who runs one of the two paediatric, Gaucher Clinic at Royal Manchester Children's Hospital spoke about the needs of children and when they face adulthood at the Gaucher Conference on 30 November 20003.

The needs of children are different from those of adults so they need to be treated differently. I have seen nearly 50 children with Gaucher disease. Thirty-eight have Type 1 of whom 23 are now adults. I also treat five Type 3 children, one is now an adult. Unfortunately I have seen six Type 2 children who sadly have all died.

I regularly see 39 patients, mostly at my clinic in Manchester, but some at their local hospital countrywide. The adults seen in Manchester visit a clinic which I hold jointly with Prof Cox every six months.


Symptoms in children with Type 1 Gaucher disease can present at any age and may include an enlarged spleen or liver, low blood counts, skeletal disease and bone crises. However there is no neurological disease and their life expectancy should be normal with treatment.

If a child has severe symptoms, these can progress rapidly and severe liver and bone disease can occur. Low dose treatment of Cerezyme is not indicated in these children and a fortnightly regimen is preferred at a dose of 60 u/kg/2weeks (units per kilo-gram of bodyweight every two weeks).

Children should start treatment with no bone problems so these do not develop. The symptoms of Types 2 and 3 Gaucher disease are a continuum which range from hydrops fetalis (a severe form of heart failure that occurs before birth), ichthyosis (dry, scaly skin), acute neuronopathic disease with symptoms such as trismus (lockjaw), strabismus (squinting), opistonus (arching of the back due to increased muscle tone) which is classic Type 2 , cardiac calcification found only in patients with the genotype D409H/D409H and classic type 3 (Norrbottnian).

Respiratory failure is common due to lung infiltration of Gaucher cells. If this is acute, the patient may respond to steroid treatment. They may also respond slowly to enzyme therapy and the lung disease of two of my young patients has improved after treatment.

Minimum follow up

Follow up appointments for children should be every three months by a doctor at one of the Gaucher centres (Manchester Children's Hospital or Great Ormond Street Hospital). The following tests should be made:

Three monthly: height, weight, liver and spleen size. full blood counts, coagulation (clotting ability), liver function tests, SACE (an enzyme that gives some indication of disease activity), chitotriosidase (an enzyme which is elevated in sufferers).

Six monthly: Cerezyme antibodies.

Yearly: Radiology to include:

Other tests:


Dose alterations of enzyme replacement therapy should only be made in conjunction with specialist units. The dose may need to be increased as the body weight of the child increases but there should be no reduction for first six months.

Bone marrow transplantations should only be considered if the patient continues to deteriorate despite maximum enzyme replacement therapy or in countries where treatment costs are prohibitive (if I was a parent and had a child with severe Gaucher disease and I could not get enzyme replacement therapy, I think I would at least want to consider a bone marrow transplant. I am not saying I'd do it but it is an option).

Home treatment should be encouraged and has been very successful. Portacaths can be surgically inserted to avoid pain if needle is inserted into a vein.

Educational needs also need to be assessed.

My Aim

My aim is to provide a smooth transition to adult services with my patient having little or no residual disease activity and normal growth and development.

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Source: Gauchers News March 2004.
© Copyright Gauchers Association 2004.