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Neonatal Cholestasis

Prolonged elevation of serum levels of conjugated bilirubin beyond the first 14 days of life.

TABLE : Subtypes of intrahepatic cholestasis

  1. Disorder of membrane transport and secretion
    1. Disorders of canalicular secretion
      1. ​​Bile acid transport –BSEP deficiency
        1. Persistent progressive (PFIC type 2)
        2. Recurrent benign (BRIC TYPE 2)
      2. Phospholipids transport—MDR3 DEFICIENCY (PFIC type 3)
      3. Lon transport – cystic fibrosis (CFTR)
    2. Complex -multi-organ disorders
      1. ​​FIC1 deficiency
        1. Persistent progressive (PFIC, type 1 Byler disease)
        2. Recurrent benign (BRLIC type 1
      2. Neonatal sclerosing cholangitis (CLDN1)
      3. Arthrogryposis-renal dysfunction- cholestasis syndrome (VPS33B) 
  2. Disorders of bile acid biosynthesis and conjugation
    1. 3 –oxo -4 steroid 5 β reductase deficiency
    2. 3 β hydroxy -5 c-27 steroid delyhdrogenase/isomerase deficiency
    3. Oxysterol 7 α hydroxylase deficiency
    4. BAAT deficiency (familial hyperchloremia) 
  3. Disorders of embryogenesis
    1. Alagille syndrome (jagged 1 defect, syndrome bile duct paucity)
    2. Ductal plate malformation (ARPKD, ADPLD, Croli disease)  
  4. Unclassified (idiopathic “neonatal hepatitis”) mechanism unknown
Note: FIC1 Deficiency, BSEP deficiency, and some of the disorders of bile acid biosynthesis are characterized clinically by low levels of serum GGT despite the presence of cholestasis. In all other disorders listed, the serum GGT level is elevated.

ADPLD, autosomal dominant polycystic liver disease (cysts in liver only); ARPKD, autosomal recessive polycystic kidney disease (cysts in liver and kidney:) BAAT mile acid transporter; BRIC, benign recurrent intrahepatic cholestasis, BSEP bile salt export pump in PFIC, progressive familial intrahepatic cholestasis

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