Table 1.
Essential clinical features of 10 MYH9 -RD patients who received cochlear implant
| Patient/family | Age 1 /gender | Inheritance | NMMHC-IIA mutation (domain) 2 | Leukocyte inclusions, MGG/IF |
Platelet count ×10
9
/L, automated/ microscopic |
Spontaneous bleeding WHO 3 (type of bleeding) | Kidney involvement | Cataract | Other relevant information | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|
| 1/1 |
34/F |
Sporadic |
p.R702C (HD) |
Yes/Yes |
8/14 |
2 (easy bruising, menorrhagia) |
Kidney transplantation |
No |
Chronic immunosuppressive drugs administration4 |
A |
| 2/2 |
40/M |
Sporadic |
p.R702C (HD) |
No/Yes |
24/31 |
1 (easy bruising) |
Nephrotic range proteinuria, CRF |
No |
Previous splenectomy; history of recurrent otitis media (bilateral); HCV hepatitis |
A |
| 3/3 |
43/M |
Sporadic |
p.R702S (HD) |
No/Yes |
21/25 |
2 (easy bruising, epistaxis) |
Proteinuria |
No |
Previous splenectomy; history of chronic otitis media (bilateral) |
A |
| 4/4 |
72/M |
AD |
p.A95D (HD) |
Yes/Yes |
70/nd |
0 |
No |
No |
History of chronic otitis media (left ear) with TM perforation |
A |
| 5/5 |
27/F |
AD |
p.D1424Y (TD) |
Yes/Yes |
10/80 |
0 |
No |
No |
None |
A |
| 6/6 |
50/F |
AD |
p.W33R (HD) |
Yes/Yes |
19/nd |
1 (easy bruising) |
No |
No |
None |
B |
| 7/7 |
12/M |
AD |
p.R705H (HD) |
Yes/Yes |
96/nd |
0 |
No |
No |
None |
C |
| 8/7 |
30/F |
AD |
p.R705H (HD) |
Yes/Yes |
115/nd |
1 (easy bruising) |
No |
No |
None |
C |
| 9/7 |
46/F |
AD |
p.R705H (HD) |
Yes/Yes |
142/nd |
1 (easy bruising) |
No |
No |
None |
C |
| 10/8 | 54/F | AD | p.D1424N (TD) | Yes/Yes | 39/nd | 2 (easy bruising, menorrhagia) | No | No | None | D |
Notes: 1 = age at time of cochlear implant. 2 = NMMHC-IIA domain affected by mutation. 3 = according to WHO bleeding scale: grade 0, no bleeding; grade 1, only cutaneous bleeding; grade 2, mild blood loss; grade 3, gross blood loss, requiring transfusion; grade 4, debilitating blood loss, retinal or cerebral associated with fatality. 4 = immunosuppressive treatments (tacrolimus, mycophenolate mofetil, and steroids) for previous kidney transplantation.
Abbreviations:NMMHC-IIA non-muscle myosin heavy chain IIA, HD head domain, TD tail domain, ref. reference, for previously reported patients, AD autosomal-dominant, CRF chronic renal failure, TM tympanic membrane, nd not determined.
References: A = Pecci et al., [8]. B = Saposnik et al., [20]. C = Verver et al., [21] D = Greinacher et al. [22].