Data from
- Korean ALD society
- Dr. Kang
- Questionnaire survey (http://goo.gl/forms/Gt8rkCMr3hqlZwt13)
- Healthcare Bigdata Hub (Korean Health Insurance Review & Assessment Service)
- Medical Chart Review
Number of Patients treated for E71.3(code) per year
- E71.3 (KCD10)
- Adrenoleukodystrophy (Addison-schilder)
- Muscle carnitine palmityltransferase deficiency (CPT-II)
These data is from government (Korean Health Institution), the incidence of ALD is about 1:20,000 patient year.
Total Korean population is about fifty million. According to ALD incidence, I expected more than two thousand ALD patients
But, In this figure, there are only one hundred eighty patients, who used hospital, per year.
I think that the incidence of Korean ALD is so much underestimated.
Korean ALD Data
- 93 families (from ALD community, questionnaire, Severance)
- 149 patients
Excluded incomplete data & women -» 69 male ALD patients
I collected the data from ninety three families, one hundred forty nine patients
The data from Korean ald society is so incomplete.
After exclusion of these data, I analyzed sixty nine male ALD patients
First impression at diagnosis
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- All asymptomatic patients were screened by proband study
- Age of diagnosis varies from 1 to 57 years old
- Cerebral ALD (n=37)
Childhood(n=30), Adult (n=7)
Age : 64month ~ 50 years old
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Cerebral ALD (n=37)
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- Cerebral ALD (n=37) Childhood(n=30), Adult (n=7)
- Age : 64month ~ 50 years old
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Myelopathy (AMN) (n=17)
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- Mean : 36.3 years old
- Youngest : 18 years old
- Oldest : 57 years old man
I found seventeen AMN patients. All patients didn’t have cerebral demyelination at diagnosis date.
The oldest patient is fifty seven year old man.
Mean age is thirty six years old.
The youngest cases is eighteen and the oldest case is fifty seven.
Their first symptom was almost gait disturbance.
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Addison's disease, only
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- Youngest symptomatic patient: 12 months old boy
I found 7 cases of addison only phenotype.
The youngest cases is twelve month old boy.
He was screened by proband study. |
Survival, Cerebral ALD
- 13 deaths (6, allogenic HSCT)
- Longest survivor : 23 years after diagnosis
- Allogenic HSCT for CCALD (including incomplete data)
- 3/12 Survival
These data is inappropriate for survival analysis because many data is incomplete and many patients were censored due to unknown reasons.
anyway, I found thirteen cases of death.
These include six cases of allogenic hematopoietic stem cell transplantation.
Longest survivor of cerebral ALD lives twenty three year after diagnosis.
I found twelve cases of receiving allogenic hematopoietic stem cell transplantation.
Only 3 patients are surviving. Both of them, one patient received transplantation 6 months ago.
Genetics
I collected mutation information from patients individually.
In 2 cases, there are no alleged mutations in ABCD1 exons.
And 4 cases are novel mutations. (Nov 2016)
Above information provided by Eul Sik Jung(nephrologist, researcher) |
