Rotor’s Syndrome: A family study
Acta Medica Philippina
; : 66-71, 2022.
Article
en En
| WPRIM
| ID: wpr-988168
Biblioteca responsable:
WPRO
ABSTRACT
@#A family was studied in which three members in the sibship belonging to the fourth generation were found to have Rotor’s syndrome. More detailed examinations including blood studies, liver profiles, oral cholecystograms, and liver biopsies where performed on the affected siblings. The results were related to what is at present known about the features and mechanisms of Rotor’s syndrome, pari passu the current concept of bilirubin metabolism. It is suggested that the constant finding, and possibly the only characteristic one in Rotor’s syndrome, is the absence of abnormal hepatic cell pigmentation. Pedigree analysis of the present family shows that the transmission of this disorder may be conditioned by an autosomal recessive gene.
Palabras clave
Buscar en Google
Base de datos:
WPRIM
Asunto principal:
Hiperbilirrubinemia Hereditaria
Idioma:
En
Revista:
Acta Medica Philippina
Año:
2022
Tipo del documento:
Article