Prospective study of 11 Brazilian patients with mucopolysaccharidosis II.
OBJECTIVE
To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period.


METHODS
Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre. The initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclear magnetic resonance, echocardiogram, 6-minute walk test, audiometry, serum biochemical tests and urinary glycosaminoglycan concentration.


RESULTS
The major findings after comparing the assessments were: 1) two patients had growth retardation; 2) two patients showed negative weight change; 3) one patient went from obese to overweight; 4) three patients revealed left ventricle hypertrophy; of these, two increased the number of cardiac valve lesions; 5) there was no statistically significant difference between the mean distances obtained on the 6-minute walk test; 6) there was splenic enlargement; 7) there was an increase in gamma-glutamyltransferase levels; 8) the urinary concentration of glycosaminoglycans remained unchanged.


CONCLUSIONS
In general, echocardiographic findings were the only variable with deterioration and possible immediate clinical consequences. Although a 12-month period is too short to detect changes in most variables related to mucopolysaccharidosis II, its progressive nature should be taken into account when evaluating the efficiency of treatment protocols.
Pinto
Louise L C
LL
Serviço de Genética Médica, Universidade Federal do Rio Grande do Sul (UFRGS), Rua Ramiro Barcelos 2350, CEP 90035-003 Porto Alegre, RS, Brazil. loulapagesse@ibest.com.br
Schwartz
Ida V D
IV
Puga
Ana C S
AC
Vieira
Taiane A
TA
Munoz
Maria Verônica R
MV
Giugliani
Roberto
R
D001938:Brazil; D002648:Child; D002675:Child, Preschool; D004185:Disability Evaluation; D018450:Disease Progression; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007361:Intelligence Tests / Q000706:statistics & numerical data; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D011446:Prospective Studies; D018709:Statistics, Nonparametric; D013997:Time Factors; D014463:Ultrasonography; D016138:Walking / Q000706:statistics & numerical data
D006025:Glycosaminoglycans