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ALAGILLE

SYNDROME
Disusun oleh:
Muhammad Shiddiq

DEFINISI
Alagille syndrome is a multisystem autosomal
dominant disorder due to defects in the notch signalling
pathway, and can affect the liver, heart, skeleton, eyes,
kidneys, and central nervous system, and there may be
characteristic facial features

European Journal of Human Genetics (2012) 20, 251257

European Journal of Human Genetics (2012) 20, 251257

Clinical Finding

Frequency (% of Individuals)
Emerick et al [1999]

Bile duct paucity

69/81 (85%)

Subramaniam et al [2
011]
77/103 (75%)

Chronic cholestasis

88/92 (96%)

104/117 (89%)

Cardiac murmur

90/92 (97%)

107/117 (91%)

Eye findings

65/83 (78%)

72/117 (61%) 1

Vertebral anomalies

37/71 (51%)

44/117 (39%) 2

Characteristic facies

86/92 (96%)

91/117 (77%)

Renal disease

28/69 (40%)

27/117 (23%)

Pancreatic
insufficiency

7/17 (41%)

NR

Growth retardation

27/31 (87%)

NR

Intellectual disability

2/92 (2%)

NR

Developmental delay

15/92 (16%)

NR

Spinner N, Leonard LD, Krantz ID. Alagille Syndrome GeneReviews [Internet] 2013.

LIVER DISEASE
Chronic cholestasis occurs in a very high proportion
(95%) of cases, and most commonly, presents in the
neonatal period or first 3 months of life, with jaundice
due to conjugated hyperbilirubinaemia.
Serum bile acids and liver function tests are raised,
pruritus and growth failure may occur, and xanthomas
may be present.
Progressive liver disease, eventually causing cirrhosis
and failure, and requiring liver transplantation, occurs
in approximately 15% of cases
European Journal of Human Genetics (2012) 20, 251257

European Journal of Human Genetics (2012) 20, 251257

Figure 2 Butterfly vertebrae seen


in the thoracic and upper lumbar
regions. The child had undergone
cardiac surgery, hence the
presence of visible wires.

European Journal of Human Genetics (2012) 20, 251257

European Journal of Human Genetics (2012) 20, 251257

European Journal of Human Genetics (2012) 20, 251257

European Journal of Human Genetics (2012) 20, 251257

European Journal of Human Genetics (2012) 20, 251257

DIAGNOSIS KLINIS
The histologic finding of bile duct paucity (an
increased portal tract-to-bile duct ratio) on liver biopsy.
In the newborn, a normal ratio of portal tracts to bile
ducts, bile duct proliferation, or a picture suggestive of
neonatal hepatitis may be observed. Overall, bile duct
paucity is present in about 90% of individuals

Spinner N, Leonard LD, Krantz ID. Alagille Syndrome GeneReviews [Internet] 2013.

DIAGNOSIS KLINIS
3 dari 5 gejala mayor berikut:
o Cholestasis
o Cardiac defect (most commonly stenosis of the
peripheral pulmonary artery and its branches)
o Skeletal abnormalities (most commonly butterfly
vertebrae identified in AP chest radiographs)
o Ophthalmologic abnormalities (most commonly
posterior embryotoxon)
o Characteristic facial features

Spinner N, Leonard LD, Krantz ID. Alagille Syndrome GeneReviews [Internet] 2013.

PEMERIKSAAN
Liver
function
tests
(the
conjugated
hyperbilirubinaemia of ALGS is associated with high
GGT levels), serum cholesterol and triglycerides, bile
acids, clotting studies, liver ultrasound, scintiscan, and
biopsy;
Detailed cardiac assessment;
AP spinal X-ray;
Ophthalmic assessment;
Renal ultrasound and renal function tests.

European Journal of Human Genetics (2012) 20, 251257

PENANGANAN PENYAKIT HATI


PADA ALAGILLE SYNDROME

In the child with significant liver disease, pruritus


can be severe, but successfully treated with
choloretic agents such as ursodeoxycholic acid and
cholestyramine, rifampin, or naltrexone.

Biliary diversion may be very helpful, and can be


useful before liver transplantation.

The 5-year survival following transplantation is


80%, and results in improvement in liver function
and growth in 90% of cases
European Journal of Human Genetics (2012) 20, 251257

TERIMA KASIH

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