1/3. Primary shunt hyperbilirubinaemia in a large four-generation family confirming autosomal dominant genetic disorder.AIM: To describe the pattern of inheritance and confirm the diagnostic criteria of primary shunt hyperbilirubinaemia (PSH). methods: Forty members of a family pedigree across four generations were included in this study. All family members were interviewed and investigated by physical examination, hematology and liver function test and the pattern of inheritance was analyzed. RESULTS: Nine of the forty family members suffered primary shunt hyperbilirubinaemia. The mature erythrocytes of the propositus were irregular in shape and size. The pedigree showed transmission of the trait through four generations with equal distribution in male and female. No individual with a primary shunt hyperbilirubinaemia was born to unaffected parents. The penetrance was complete in adult. CONCLUSION: The pattern of inheritance is autosomal dominant. The abnormality of erythrocytes and decrease in white blood cell could be supplemented in the diagnosis of PSH. The PSH is a genetic disorder and could by renamed as hereditary shunt hyperbilirubinaemia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/3. Familial clustering of heterogeneous chronic unconjugated hyperbilirubinemia.This study concerns the family of a girl affected by type 2 crigler-najjar syndrome; a brother and a sister died of kernicterus a few months after birth. The father and two living siblings had moderate unconjugated hyperbilirubinemia. The patient's liver uridine-diphospho-glucuronyl-transferase activity (UDPGT) was markedly reduced. All the family members underwent nicotinic acid (NA) load to test hepatic uptake capacity. This test, and NA half-life were normal in the patient and in her mother, and altered in the other relatives. The extent of the hyperbilirubinemic response to NA load, and of the NA half-life, together with physical examination over a one-year period were in good agreement with the diagnosis of Gilbert's syndrome in the patient's father and siblings. Our conclusion is that different impairments of hepatic handling of organic anions may be present in members of families with non-hemolytic bilirubinemia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/3. Long term phototherapy in crigler-najjar syndrome.A 10 year old girl with type 1 crigler-najjar syndrome has been treated with daily phototherapy from birth. Her general physical and neurological development are normal.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |