Hernia Femoralis

ALAGILLE SYNDROMEDisusun oleh:Muhammad ShiddiqAlagille 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 featuresDEFINISIEuropean Journal of Human Genetics (2012) 20, 251257

European Journal of Human Genetics (2012) 20, 251257Clinical FindingFrequency (% of Individuals)Emerick et al [1999]Subramaniam et al [2011]Bile duct paucity69/81 (85%)77/103 (75%)Chronic cholestasis88/92 (96%)104/117 (89%)Cardiac murmur90/92 (97%)107/117 (91%)Eye findings65/83 (78%)72/117 (61%)1Vertebral anomalies37/71 (51%)44/117 (39%)2Characteristic facies86/92 (96%)91/117 (77%)Renal disease28/69 (40%)27/117 (23%)Pancreatic insufficiency7/17 (41%)NRGrowth retardation27/31 (87%)NRIntellectual disability2/92 (2%)NRDevelopmental delay15/92 (16%)NRSpinner N, Leonard LD, Krantz ID. Alagille Syndrome GeneReviews[Internet] 2013.

LIVER DISEASEChronic 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 casesEuropean 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, 251257DIAGNOSIS KLINISThe 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 individualsSpinner N, Leonard LD, Krantz ID. Alagille Syndrome GeneReviews[Internet] 2013.

DIAGNOSIS KLINIS3 dari 5 gejala mayor berikut:CholestasisCardiac defect (most commonly stenosis of the peripheral pulmonary artery and its branches)Skeletal abnormalities (most commonly butterfly vertebrae identified in AP chest radiographs)Ophthalmologic abnormalities (most commonly posterior embryotoxon)Characteristic facial features

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

PEMERIKSAANLiver 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, 251257In 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 casesPENANGANAN PENYAKIT HATIPADA ALAGILLE SYNDROMEEuropean Journal of Human Genetics (2012) 20, 251257TERIMA KASIH