[CIS PIDD] [cis-pidd] Schimke Immuno-osseous dysplasia

[CIS-PIDD]

Dear All,
I would like to ask people's experience of Schimke Immuno-osseous dysplasia. We have a patient who is now 4 years old with end stage renal failure being considered for peritoneal dialysis.
>From an immunological perspective, he is T lymphopaenic (CD4+ maintained around 0.2x10^9/L for the last year), with reduced proliferative responses to PHA and anti-CD3. Normal immunoglobulins but poor response to pneumovax. He had frequent respiratory infections and was commenced on subcutaneous immunoglobulin a year ago.
Since that time he has been relatively well from an infection perspective, with a few viral respiratory infections and intermittent HSV stomatitis. He has not had oral thrush. In fact, he has been better than I thought he would be over the last 6 months!
He is on co-trimoxazole prophylaxis, subcutaneous immunoglobulin and intermittent oral acyclovir for the HSV but no fluconazole.
HSCT was discussed but he has no sibling donors or suitable unrelated donor and after discussion with the family about published outcome data the decision has been made not to pursue this.
His renal function is such now that without dialysis his life expectancy is a matter of months at best. I have been asked to comment on his likely progress from an immunological perspective were we to manage his renal failure.
I am aware of a couple of patients who have survived to around 7 years of age and there are case reports I have read of teenagers.
I would be interested to hear from anyone with experience of Schimke patients as to how long they may survive before succumbing to significant infections?

Many Thanks

Dr Theresa Cole
Paediatric Immunologist Allergist
Department of Allergy & Immunology

The Royal Children's Hospital Melbourne
50 Flemington Road Parkville 3052 Victoria
T: 03 9345 5701 F:03 9345 4848
www.rch.org.au<http://www.rch.org.au>

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