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Progressive Familial Intrahepatic Cholestasis Type 3
Progressive Familial Intrahepatic Cholestasis 3

Presentation

She also presents a sever failure to thrive, despite adequate nutritional support by gastric tube at home. [latunisiemedicale.com]

Immune System

  • Splenomegaly

    She had no splenomegaly. Stool was normally colored and the urine was dark. Laboratory investigations are reported in table I. [latunisiemedicale.com]

Gastrointestinal

  • Abdominal Distension

    There was gradual abdominal distension due to enlargement of liver size; the left liver was palpable six cm below mid-clavicular line. She had no splenomegaly. Stool was normally colored and the urine was dark. [latunisiemedicale.com]

Urogenital

  • Dark Urine

    He was icteric, eutrophic, had pale stools and dark urine and hepatomegaly. His biological assessment (Table I) was in favor of PFIC 1 or 2 diagnosis. He was discharged under ursodeoxycholicacid and fat-soluble vitamins (A, D, E, K). [latunisiemedicale.com]

Treatment

The prognosis of this pathology is poor, despite adequate medical treatment and nutritional care. Liver transplantation is considered as the only curative treatment. [latunisiemedicale.com]

Prognosis

The prognosis of this pathology is poor, despite adequate medical treatment and nutritional care. Liver transplantation is considered as the only curative treatment. [latunisiemedicale.com]

Prevention

Unfortunately, this genetic counseling was not performed in the first family in our study, which could have prevented the recurrence of this serious pathology in their second child. [latunisiemedicale.com]

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