- Form of progressive familial intrahepatic cholestasis (PFIC).
- Known as PFIC 1.
- Named after the Amish Byler family, where the condition was first identified.
- Onset near end of first year of life.
- Presents with pruritus & hepatomegaly.
- Elevated bile acids in the serum.
- Gamma GT either normal or reduced.
- Malabsorption & developmental disorders occur as a result of jaundice with cholestasis.
- Liver cirrhosis & hepatoma frequently develop.
- Childhood chronic bronchitis is common.
- Life expectancy - between 3-20 years.
- Genetic mutation on chromosome 18q21-22.
- Mutation occurs in liver & other epithelial body tissue.
- Impairment of aminophospholipid transport.
- Defect found in canalicular membrane of hepatocytes & apical membrane of cholangiocytes.
Posted by Medicalchemy
Medicalchemy Group: History of Medicine - Images - Mnemonics - Syndromes - Acute Medicine - Anaesthesiology - Anatomy - Anthropology - Biochemistry - Cardiology - Dentistry - Dermatology - Drug ADR - Drugs - Embryology - Emergency Medicine - Endocrinology - Epidemiology - Family Medicine - Forensic Medicine - Gastroenterology - Genes - Genetics - Geriatrics - Gynecology - Haematology - Health Informatics - Hepatology - Immunology - Infection - Intensive Care - Medical Dictionary - Medical Education - Medical Statistics - Metabolic Medicine - Microbiology - Nephrology - Neuroanatomy - Neuroscience - Nuclear Medicine - Nutrition - Obstetrics - Occupational Health - Oncology - Ophthalmology - Orthopaedics - Otolaryngology - Paediatrics - Palliative Care - Parasitology - Pathology - Pharmacology - Physiology - Proteomics - Psychiatry - Public Health - Radiology - Respiratory - Rehabilitation - Rheumatology - Sports Medicine - Surgery - Toxicology - Tropical Medicine - Urology - Vascular - Virology.
No comments:
Post a Comment