Hemolytic anemia as the first manifestation in hepatolenticular degeneration combined with ichthyosis:a case report / 临床儿科杂志
Journal of Clinical Pediatrics
; (12): 734-736, 2016.
Article
em Zh
| WPRIM
| ID: wpr-502858
Biblioteca responsável:
WPRO
ABSTRACT
Objective To explore the clinical features of hepatolenticular degeneration (HLD) with hemolytic anemia as the first manifestation, and its relationship with ichthyosis.Method The clinical manifestations, course, diagnosis, and treatment of HLD combined with ichthyosis in one child who presented with hemolytic anemia as the ifrst manifestation, were retrospectively analyzed.Results In ten-year-old girl, the ifrst symptom was fatigue and jaundice, and then progressed to abdominal distension 5 days after admission. The reticulocyte percentage was 8.5%. Coombs test was negative. The K-F rings appeared on the cornea. The CT scan of Abdomen showed pleural and peritoneal effusion, abnormal substance deposition in liver and splenomegaly. There were mutations inATP7B andTGM1 genes, both of which were located on fourteenth of chromosomes. The diagnosis of HLD combined with ichthyosis was conifrmed. After symptomatic and supportive treatments such as removal of copper, prevention of the copper absorption and supplement of vitamin A, the disease was brought to remission.Conclusion HLD with hemolytic anemia as the ifrst manifestation, combined with ichthyosis was extremely rare.
Texto completo:
1
Base de dados:
WPRIM
Idioma:
Zh
Revista:
Journal of Clinical Pediatrics
Ano de publicação:
2016
Tipo de documento:
Article
País de publicação:
CHINA
/
CN
/
REPUBLIC OF CHINA