Checklists for Fabry disease
Medical Genetics Center, Asan Medical Center Children’s Hospital, Seoul, Korea
- Name(Initial for English)
- Gender:
- Date of Birth Year(YYYY):
- Family History : Familial (Yes / No) vs. Sporadic (Yes / No)
(Any relative with Fabry disease)
- At Presentation
- Age yrs
- Presenting symptoms/signs : (ex, acroparesthesia, familial screening, proteinuria etc)
- At Diagnosis
- Age yrs
- Results of enzyme assay
- Results of Genetic testing
- GL3
-Serum (3.88 - 9.87 ug/ml)ug/mL
-Urine(0.01-0.9 ug/mg Cr)ug/mg cr
- Clinical features BEFORE TREATMENT
Age at evaluation: yrs
- Cutaneous
①Angiokeratoma(Yes / No) If yes, which regions:
- Cardiac
①EKG abnormality(Yes / No)
If Yes, (ex, WPW syndrome)
②Cardiac hypertrophy (Yes / No)
If Yes, (ex, LVH)
③Cardiac MRI (Yes / No)
If Yes, When (YYYY/MM/DD) ?
The Results:
④Cardiac transplantation or pacemaker implantation
(Yes / No) If Yes, When yrs
- Gastrointestinal manifestation
①Diarrhea/Constipation(Yes / No)
②Recurrent vomiting(Yes / No)
③Abdominal Pain(Yes / No)
- Ophthalmological
①corneal clouding(Yes / No)
②others
- Otological
①Tinnitus(Yes / No)
②Vertigo (Yes / No)
③Sensorineural hearing loss(Yes / No)
④Others
- Neurological
①Anhidrosis / Hypohydrosis(Yes / No) / (Yes / No)
②Acroparesthesia(Yes / No)
③Stroke(Yes / No)
If Yes, (ex, MCA infarct)
④Brain MRI/MRA(Yes / No)
If Yes,
When (YYYY/MM/DD)?
The results:
- Renal
Height cm/Weight kg
①Spot urine: mg/g cr
②24hr-urine protein (25-70mg/day) :
③Creatinine clearance: ml/min or ml/min/1.73m2
④Serum creatinine: g/dL
⑤Renal biopsy (YYYY/MM/DD)
- GL3 deposition inEndothelial ( )/ Mesangial ( ) / Epithelial cell ( )
- Global sclerosis : %
- Focal Segmental glomerular sclerosis : %
- Interstitial fibrosis(Yes / No)
- Tubular atrophy (Yes / No)
⑥Renal replacement therapy(Yes / No)
- Hemodialysis (Yes/No), Age at initiation: yrs
- Peritoneal dialysis (Yes/No), Age at initiation:yrs
- Renal transplantation (Yes/No), Age at transplantation:yrs
- Treatment
- Enzyme replacement therapy (Yes/No), Age at initiation: yrs
- Name of Drug
- Dose/Interval/
- Other Medication
- ACE inhibitor
Age at initiation: yrs
Name/Dose /
- Angiotensin II Receptor blocker
Age at initiation: yrs
Name/Dose /
- Pain medication
-Drug 1
Age at initiation: yrs
Name/Dose /
-Drug 2
Age at initiation: yrs
-Drug 3
Name/Dose /
Age at initiation: yrs
Name/Dose /
- Clinical features AFTER TREATMENT
Age at the latest evaluation: yrs
- Cutaneous
①Angiokeratoma(Yes / No) If yes, which regions:
- Cardiac
①EKG abnormality (Yes / No)
If Yes, (ex, WPW syndrome)
②Cardiac hypertrophy (Yes / No)
If Yes, (ex, LVH)
③Cardiac MRI (Yes / No)
If Yes, When (YYYY/MM/DD)?
The Results:
④Cardiac transplantation (Yes / No) If Yes, When yrs
- Gastrointestinal manifestation
①Diarrhea/Constipation (Yes / No)
②Recurrent vomiting (Yes / No)
③Abdominal Pain (Yes / No)
- Ophthalmological
①corneal clouding(Yes / No)
②others
- Otological
①Tinnitus(Yes / No)
②Vertigo (Yes / No)
③Sensorineural hearing loss (Yes / No)
④Others
- Neurological
①Anhidrosis / Hypohydrosis(Yes / No) / (Yes / No)
②Acroparesthesia(Yes / No)
③Stroke (Yes / No)
If Yes,
When (YYYY/MM/DD)?
Region: (ex, MCA infarct)
④Brain MRI/MRA (Yes / No)
If Yes,
When (YYYY/MM/DD)?
The results:
- Renal
Height cm / Weight kg
①Spot urine: mg/g cr
②24hr-urine protein (25-70mg/day) :
③Creatinine clearance: ml/min or ml/min/1.73m2
④Serum creatinine: g/dL
⑤Renal biopsy (YYYY/MM/DD)
- GL3 deposition in Endothelial ( ) / Mesangial ( ) / Epithelial cell ( )
- Global sclerosis : %
- Focal Segmental glomerular sclerosis : %
- Interstitial fibrosis (Yes / No)
- Tubular atrophy (Yes / No)
⑥Renal replacement therapy (Yes / No)
- Hemodialysis (Yes / No), Age at initiation: yrs
- Peritoneal dialysis (Yes / No), Age at initiation: yrs
- Renal transplantation (Yes / No), Age at transplantation: yrs
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