Caracteristicas clinicas, antropometricas e laboratoriais de pacientes com glicogenose / Clinical, antrophometric and laboratorial characteristics of patients with glycogenosis

AUTOR(ES)
DATA DE PUBLICAÇÃO

2007

RESUMO

Background ? Glycogen storage diseases comprise a group of genetic diseases determined and classified into 11 types, according to the identified enzymatic deficiency. There is little information regarding the disease evolution. Aim ? Describe clinical and laboratorial characteristics in the admission and evolution of patients with glycogen storage disease. Patients and methods ? Twenty-two patients with hepatic glycogen diagnosis participated in the study, 11 (50%) of which were female. The study was descriptive and longitudinal. The collected data file consisted of admission information: clinical features, weight, height, body mass index (BMI) and laboratorial exam results: hemogram, hepatic enzymes, total cholesterol and fractions, triglycerides, glycemia, uric acid, urea and creatin. Afterwards, the following phases were selected: 1 (admission), 3 (12 months of evolution) and 7 (36 months of evolution) for the weight, height, BMI and laboratorial tests: uric acid, glycemia, total cholesterol and triglycerides. The antropometric data, hepatic enzymes and mentioned tests were compared during 2 moments: admission and last appointment of each patient. The score Z was utilized to evaluate the weight and height of patients, considered if the standard deviation was under 2. The growth velocity was calculated among the second and first consult and the last and the penultimate consult. The adherence percentage was determined by the appointment absence percentage: Good: absenteeism minor 20%; regular: absenteeism major 20% and minor 40%; bad: absenteeism major 40%. The statistical tests applied were ANOVA, Kruskal-Wallis, Mann-Whintney, and Wilcoxon. The significance level was 5%. Results - The mean time during the first symptoms was 10,73 months and the mean time up to diagnosis was 28,18 months. The mean time of follow-up was 105 months. The most frequent initial clinical manifestations were: hepatomegaly in 21 (95%), protuberant abdomen in 19 (86%), doll face in 14 (64%), diarrhea in 10 (45%) and history hypoglycemia in 8 (36%). In the admission the deficit of the weight to age was 26% (5/19) and height to age was 35% (7/20), In the initial biochemical tests showed elevation of hepatic enzymes, hypercholesterolemia, hypertriglyceridemia, hypoglycemia. There was no statistical difference among the score Z weight to age, score Z height to age, body mass index and laboratorial tests of admission within 12 and 36 months. Significant differences were observed in BMI, hepatic enzymes, glycemia and triglycerides between the first and the last appointments, opposing to the score Z weight to age, score Z height to age, uric acid and cholesterol exam results. In the comparison of the growth velocity there was elevation tendency between the V1 and V2. There was difference significative of the growth velocity among the first and second versus the penultimate and the last consult. The adherence percentage was considered good in 64%. Conclusions - The patients delayed in seeking the reference center for glycogenosis early diagnosis. The most frequent clinical manifestations were protuberant abdomen, hepatomegaly, elevation of triglycerides and cholesterol, and glycemia reduction. In the evolution, there wasn?t difference statistic in the antropometric parameters, but there was improvement tendency on the growth velocity. The treatment has improved the metabolic derangement

ASSUNTO(S)

doença do deposito de glicogenio triglycerides hipoglicemia glycogen storage disease triglicerides hypoglycemia

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