A young hemodialysed patient with a Wiskott-Aldrich syndrom suspicion — case report

Abstract

Wiskott-Aldrich Syndrome (WAS) is a rare,
X-linked recessive disorder. This genetic diseaseconcerns
changes in a specific cytoplasmic
protein (WASp) mainly expressed inhematopoietic
stem cells. The missense mutations
in the WASp gene lead to severeimmunodeficiency
and trombocytopenia. The case presents
a young patient with suspicion ofWAS.
The clinical course was complicated and fatal
in prognosis as the patient developedrecurrent
infections, trombocytopenia, renal insufficiency
and dissection of aorta. Wehighlight the importance
for seeking potential underlying causes in
case of unexplainedtrombocytopenia coexisting
with renal insufficiency.