Hereditary Spherocytosis Associated with Gilbert Syndrome Diagnosed with Liver Biopsy Examination and Exome Sequencing.
J Coll Physicians Surg Pak
; 30(2): 213-215, 2020 Feb.
Article
en En
| MEDLINE
| ID: mdl-32036834
ABSTRACT
Depending on which part of the physiological pathway is affected by the pathology, jaundice is classified into three categories pre-hepatic/hemolytic, hepatic/hepatocellular, and post-hepatic/cholestatic. With routine laboratory tests, most cases of jaundice can be etiologically diagnosed. However, exceptions do occur. Here, we present a case of a 14-year girl who presented with intermittent jaundice for one year that could not be diagnosed with a routine protocol. Her laboratory tests showed a moderate impairment of liver function and a positive osmotic fragility test. Computed tomography scan of her upper abdomen revealed multiple gallbladder stones and splenomegaly. With the help of liver pathological examination and exome sequencing, this patient was finally diagnosed as hereditary spherocytosis combined with Gilbert syndrome.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esferocitosis Hereditaria
/
Biopsia
/
Secuenciación del Exoma
/
Enfermedad de Gilbert
/
Hígado
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Risk_factors_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
J Coll Physicians Surg Pak
Asunto de la revista:
MEDICINA
Año:
2020
Tipo del documento:
Article
País de afiliación:
China