◎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)
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