CHOLESTATIC LIVER DISEASE [DD]

Question 1

What is  CHOLESTATIC LIVER DISEASE [DD]?

Accepted Answer

Neonatal cholestasis occurs in approximately 1 in 2500 term infants (conjugated hyperbilirubinemia)
Age of presentaion <3 months:
- Biliary Atresia
- Infections (viral hepatitis, cytomegaly, toxoplasmosis, others)
- Alpha 1-antitrypsin deficiency
- Cystic fibrosis
- Niemann-Pick disease type C
- Tyrosineamie type I
- Alagille syndrome
- Citrin deficiency (Eeast Asian)
- Genetic conditions
- Metabolic disorders, storage diseases
- Endocrine Disorders (e.g. CPHD, hypopituitarism)
- Preterm infants (multifactorial etiology)
Age of presentaion >3 months:
- Rotor syndrome
- Dubin-Johnson-Syndrome
- Pregressive familial intrahepatic cholestasis (Byler disease)
cholestasis might represent a pitfall in oxysterol measurements intended to aid diagnosis of NPC in affected patients [Plo G et al. 2016]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Angeborene Fehlbildungen der Gallenblase, der Gallengänge und der Leber

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN ---

Question 4

Which enzymes are involved?

Accepted Answer

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Disease	CHOLESTATIC LIVER DISEASE [DD]
OMIM	--- OMIM = Online Mendelian Inheritance of Men
Gene locus	Detail information to gene locus by the National Center for Biotechnology Information NCBI: MAJOR HISTOCOMPATIBILITY COMPLEX
ICD	Q44.-
Summary	Neonatal cholestasis occurs in approximately 1 in 2500 term infants (conjugated hyperbilirubinemia) Age of presentaion <3 months: - Biliary Atresia - Infections (viral hepatitis, cytomegaly, toxoplasmosis, others) - Alpha 1-antitrypsin deficiency - Cystic fibrosis - Niemann-Pick disease type C - Tyrosineamie type I - Alagille syndrome - Citrin deficiency (Eeast Asian) - Genetic conditions - Metabolic disorders, storage diseases - Endocrine Disorders (e.g. CPHD, hypopituitarism) - Preterm infants (multifactorial etiology) Age of presentaion >3 months: - Rotor syndrome - Dubin-Johnson-Syndrome - Pregressive familial intrahepatic cholestasis (Byler disease) cholestasis might represent a pitfall in oxysterol measurements intended to aid diagnosis of NPC in affected patients [Plo G et al. 2016]
Laboratory findings	7-ketocholesterol inc (plasma) Bilirubin, conjugated inc (serum)
Symptoms	cholestasis hyperbilirubinemia liver involvement or dysfunction onset, infancy onset, neonatal stool color