Cohn et al reported a simple mnemonic tool that can help to screen patients for Hunter syndrome (Mucopolysaccharidosis Type II, MPS II). The authors are from Shire Human Genetic Therapies, Inc.
Mnemonic: HUNTER
Parameters:
(1) hernia (H)
(2) hearing (H) loss or impairment, hearing aids, otitis
(3) unusual (U) face (dysmorphic facial features)
(4) nasal (N) obstruction or rhinorrhea
(5) tongue (T) and tonsils, enlarged
(6) enlarged (E) liver and spleen (hepatomegaly, splenomegaly)
(7) respiratory (R) problems (airway obstruction, obstructive sleep apnea)
(8) range (R) of motion, restricted (joint stiffness)
|
Parameter |
Finding |
Model 1 |
Model 2 |
|
hernia |
absent |
0 |
0 |
|
|
present |
1 |
1 |
|
hearing loss |
absent |
0 |
0 |
|
|
present |
1 |
1 |
|
dysmorphic face |
absent |
0 |
0 |
|
|
present |
1 |
2 |
|
nasal obstruction or rhinorrhea |
absent |
0 |
0 |
|
|
present |
1 |
2 |
|
enlarged tongue |
absent |
0 |
0 |
|
|
present |
1 |
2 |
|
enlarged tonsils |
absent |
0 |
0 |
|
|
present |
1 |
1 |
|
hepatomegaly |
absent |
0 |
0 |
|
|
present |
1 |
2 |
|
splenomegaly |
absent |
0 |
0 |
|
|
present |
1 |
2 |
|
airway obstruction or sleep apnea |
absent |
0 |
0 |
|
|
present |
1 |
1 |
|
joint stiffness |
absent |
0 |
0 |
|
|
present |
1 |
2 |
where:
• History in the family could be added to the (H).
total score for model 1 =
= SUM(points for all 10 parameters)
total score for model 2 =
= SUM(points for all 10 parameters)
Interpretation:
• minimum score: 0
• maximum score for Model 1: 10
• maximum score for Model 2: 16
• A Model 2 score > =6 correctly identified 95% of patients with Hunter syndrome
Specialty: Genetics
ICD-10: ,
