[A case report of Byler's syndrome].
The case report describes a progressive familial intrahepatic cholestasis II type Byler's syndrome with structural abnormality of the bile canalicular membrane. A child with a rare hereditary pathology,who is on the waiting list for liver transplantation, on the background of complex treatment, including diet therapy, drug therapy achieved a positive dynamics of clinical and laboratory parameters, acceleration of physical, psychomotor and intellectual development, that in general has improved the surgery prognosis and quality of life of the patient.
B S
BS
Kaganov
T V
TV
Strokova
I V
IV
Machulan
E A
EA
Kamenets
E Iu
EIu
Zakharova
D002675:Child, Preschool; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis* / Q000178:diet therapy* / Q000188:drug therapy*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008111:Liver Function Tests; D012293:Rifampin / Q000008:administration & dosage / Q000627:therapeutic use; D013577:Syndrome; D016896:Treatment Outcome; D014580:Ursodeoxycholic Acid / Q000008:administration & dosage / Q000627:therapeutic use
D014580:Ursodeoxycholic Acid; D012293:Rifampin