◎腹瀉
◎肝腫
◎生長遲緩
◎二十萬分之一
- Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency [Spriggs-EL 1999]
- Long-term outcome of liver tx in pts with GSD Ia [Faivre-L 1999]
age 15,17,23; normal renal function
QOL greatly improved for 6-8yr, catch-up growth, long-term Cxà
hepatitis C in 1, gouty attacks in 1, FSGS with progressive renal insufficiency in the 3rd
- Effect of continuous glucose therapy begun in infancy on the long-term clinical course of
pt with GSD Ia [Wolfsdorf JI 1999]
17pt, 14.6y/o, continuous glucose therapy begin at 0.8
- The long-term outcome of pts with GSD Ia [Smit 1993]
41 pt(25/16),
Ht <3% 19(
Hypoglycemia 6
Hepatomegaly 39/40; 11/27 >10cm
Adenoma 11/39
Cholesterol 31/38; 7>10.0mmol/l
TG 29/34; 8>4.0mmol/l
Uric acid 19/35
Mental 32/27normal, 5 abnormal
Frequent daytime feeding, + NG night feeding: responder 16, non-responders 4
- GSD III: long-term study [Coleman RA 1992]
- GSD Ia: kidney involvement, pathogenesis and its treatment [Chen 1991]
HyperfiltrationàFSGS, renal stone, nephrocalcinosis à amyloidosis, Fanconi-like rarely
(hyperfiltration, hypertension, hyperlipidemia, hyperuricemia)
|
|
No
|
Begin
|
Age
|
Ht
|
G
|
Lactate
|
Hgb
|
Adenom
|
Renal
|
1999
|
Wolfsdorf
|
17
|
0.8
|
14.6
|
-0.8
|
76-108
|
2.1-3.8
|
10.6-11.6
|
29%
|
Hyperfiltra
albuminuria
|
1993
|
Chen
|
6CS
|
|
13.5
|
-1.29
|
|
|
|
|
|
|
|
7CNG
|
|
9.6
|
-1.24
|
|
|
|
|
|
1993
|
Smit
|
41
|
|
|
|
|
|
|
|
|
1990
|
Smit I,III,VI,IX
|
139
|
|
|
VI: nl
IX: nl
|
|
|
|
1/3
|
III:myopathy,cardiomyo
|
|
|
|
|
|
|
|
|
|
|
|
|