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A 32 -year-old female patient is seen in the hematology clinic for fol low-up of pre-sumed ITP diagnosed during pregnancy 18 months previously. Complete blood count shows leu kocyte count 7 ,000/ pl. hemoglobin 1 3.8 g/dl, and platelet count LjO,OOO/ pl. She had been treated with predn isone. but did not respond. The peripheral blood smear is shown below.
What extrahematologic disorders may affect patients with MYH9-related diseases?
- Renal dysfunction, cataracts, hearing impairment
- Atypical infections, increased risk of lymphoma, eczema
- Hearing impairment, cardiac defects, increased risk of lymphoma
- Developmental delay, hearing impairment, cardiac defects
Medicine
A. Renal dysfunction, cataracts, and deafness are associated with the MYH9-related dis-eases, and affect 30%, 16%, and 60% of patients, respectively. Genotype/phenotype correlations have been recognized, and therefore mutation screening is beneficial to help define the risk of acquiring such conditions (Br J Haematol. 20 1 1;154:161-174).
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