Early Onset of Wilson Disease: Diagnostic Challenges.
J Pediatr Gastroenterol Nutr
; 65(5): 555-560, 2017 11.
Article
em En
| MEDLINE
| ID: mdl-28753182
ABSTRACT
OBJECTIVES:
The aim of the study was to analyze the clinical presentations, diagnosis, and treatment of patients ages ≤5 years with early onset Wilson disease (WD).METHODS:
Data from 143 pediatric patients with WD treated at our center between January 1996 and November 2015 were retrospectively analyzed.RESULTS:
A review of the 143 pediatric patients with WD identified 21 (10 girls, 11 boys) with first symptoms or abnormal liver function test results at age ≤5 years. The diagnosis of WD was confirmed in 8 patients younger than 5 years. At baseline the mean serum alanine aminotransferase level was 222 U/L and the mean serum aspartate aminotransferase level was 130 U/L. The mean serum ceruloplasmin concentration in 16 tested patients was <20 mg/dL. Of the 15 patients who underwent urinary copper excretion testing, 8 had levels between 40 and 100 µg/day, with only 4 having levels >100 µg/day. Liver copper quantification was >250 µg/g dry weight in 16 patients. The most common mutation was p.H1069Q, with compound heterozygosity in 5 patients and homozygosity in 9. Sixteen patients were treated with zinc salts and 5 with D-penicillamine. Both treatments were effective, with no serious side effects observed after 3 to 24 months.CONCLUSIONS:
WD can present as early as 2 years of age. Because biochemical tests may be less sensitive in very young children, diagnoses may require a combination of tests. If molecular tests are inconclusive, liver copper content should be measured.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Degeneração Hepatolenticular
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article