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Summary
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 PFIC1
BYLER DISEASE
211600
OMIM = Online Medalian Inheritance of Men
172
18q21
  • liver transplantation
  • partial biliary diversion
rare (1/90,000)
autosomal recessive
symptoms
cholecystitis
cholestasis
cirrhosis or fibrosis of liver
failure to thrive
gallstones, cholelithiasis
hepatoma
hepatomegaly (large liver)
jaundice
liver failure
nose bleed
onset, infancy
pruritus
rickets
steatorrhea
laboratory finding
Bile acids, total0.250.350.190.29mmol/lserum
Bile acids, total 2.505.70172.10mmol/lbile
Bilirubin51.00170.003.4017.00-Ámol/lserum
gamma-Glutamyl transpeptidase 8.0090.00normal/lowserum
Vitamin A 0.701.50decreasedserum
Vitamin E 7.0021.00decreasedserum
Vitamin D2, 25-Hydroxyvitamin D 24.00120.00decreasedserum
Phosphatase, alkaline 20.00150.00increasedserum
Coagulopathy/Coagulation factors abnormalplasma
Vitamin D decreasedserum
Cholesterol decreasedserum
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991