[Clinical Characteristics and Gene Mutations of Gilbert Syndrome Complicated with Myeloproliferative Neoplasm].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 25(2): 567-571, 2017 Apr.
Article
en Zh
| MEDLINE
| ID: mdl-28446312
ABSTRACT
OBJECTIVE:
To investigate the clinical characteristics and gene mutations of patients with Gilbert syndrome complicated with myeloproliferative neoplasms (MPN).METHODS:
Peripheral blood samples from 1 patient with Gilbert syndrome complicated with MPN and his son were collected to analyse all exon mutations of UGT1A1 gene.RESULTS:
The patient with leukocytosis, thrombocythemia, mild anemia and positive JAK2/V617F mutation was initially diagnosed as MPN. The hyperbilirubinemia suggested concurrent disease. Further gene evaluation disclosed a insertion mutation in the (TA)6TAA box, and a missense mutation(GâA) at 211 bp of exon 1, corresponding to the deficiency in the bilirubin-conjugating enzyme uridine-diphosphoglucuronosyl transferase1A1 (UGT1A1). His son only carried some polymorphism mutation without manifestation of this disease.CONCLUSION:
It is a first report case of MPN complicated with Gilbert syndrome that can highlight the differential diagnosis for hyperbilirubinemia.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Glucuronosiltransferasa
/
Enfermedad de Gilbert
/
Mutación
/
Trastornos Mieloproliferativos
Límite:
Humans
Idioma:
Zh
Revista:
Zhongguo Shi Yan Xue Ye Xue Za Zhi
Asunto de la revista:
HEMATOLOGIA
Año:
2017
Tipo del documento:
Article
País de afiliación:
China