A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1218-1222, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-781708
ABSTRACT
A girl was admitted to the hospital on day 2 after birth due to jaundice of the skin and sclera for half a day. The main clinical manifestations were persistent severe jaundice and thrombocytopenia, and she was finally diagnosed with congenital thrombotic thrombocytopenic purpura (TTP). Her conditions were improved after phototherapy, exchange transfusion, and infusion of fresh frozen plasma, red blood cells, and platelets. Gene detection showed a homozygous mutation of c.3650T>C(p.I1217T) in the ADAMTS13 gene, while her parents had a heterozygous mutation at this locus. Congenital TTP is a rare autosomal recessive disease, and timely infusion of fresh frozen plasma can achieve a good clinical outcome. This is the first case of congenital TTP caused by homozygous mutation at this locus reported in China and overseas.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Purpura, Thrombotic Thrombocytopenic
/
China
/
ADAMTS13 Protein
/
Hyperbilirubinemia
/
Anemia
Limits:
Female
/
Humans
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2019
Type:
Article
Similar
MEDLINE
...
LILACS
LIS