Current perception threshold testing in Fabry's disease.
We investigated 16 patients with Fabry's disease (eight hemizygous men and eight heterozygous women) in one family. We used constant current perception threshold (CPT) testing, which evaluated three major sensory nerve fiber populations, to assess subjective complaints of pain and paresthesias. We also examined clinical and biochemical features and compared the values of CPTs and nerve conduction studies (NCS) in detecting the sensory neuropathy. Our results showed that CPT testing at low frequencies (5 and 250 Hz) was significantly more sensitive than at a higher frequency (2 kHz) and NCS in detecting sensory neuropathy in patients with Fabry's disease. However, there was no correlation between CPT testing and clinical symptom scores, duration of disease, creatinine clearance (Ccr) values or alpha-galactosidase A (AGA) activities in either hemizygous or heterozygous patients. Hemizygous patients clinically demonstrated more severe symptom scores, poorer renal function, and higher prevalence of hypohidrosis and corpora angiokeratomas than did heterozygous patients, which indicates that detailed clinical examinations can differentiate the clinical status of hemizygous men from heterozygous women. There were no associations between the biochemical levels of serum AGA activity and renal function (Ccr values) or the symptom scores (grading of acroparesthesia), indicating that biochemical parameters do not predict clinical severity.
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L S
LS
Department of Neurology, Chang Gung Memorial Hospital, and Chang Gung University, 199 Tung Hwa North Road, Taipei, Taiwan 10591. cgrols@adm.cgmh.com.tw
Chen
S T
ST
Tang
L M
LM
Hsu
W C
WC
Chang
H S
HS
Huang
C C
CC
D000293:Adolescent; D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D005192:Family Health; D005260:Female; D006028:Glycosphingolipids / Q000097:blood; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D017288:Pain Threshold; D010292:Paresthesia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D011379:Prognosis; D000519:alpha-Galactosidase / Q000097:blood
D006028:Glycosphingolipids; C088880:ceramide trihexoside; D000519:alpha-Galactosidase