Similar anti-mitochondrial antibody reactivity profiles in familial primary biliary cirrhosis
| Autor: | Takashi Maeda, Yoshiko Kadokawa, Naoaki Akisawa, Shinji Iwasaki, Toshiji Saibara, Katsuhisa Omagari, Saburo Onishi, Yoshizumi Hayase |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
medicine.medical_specialty
Daughter Hepatology biology business.industry media_common.quotation_subject Disease medicine.disease Gastroenterology digestive system diseases Familial primary biliary cirrhosis Titer Infectious Diseases Primary biliary cirrhosis Internal medicine Immunology medicine biology.protein Family history Antibody business media_common Anti-mitochondrial antibody |
| Zdroj: | Hepatology Research. 33:33-38 |
| ISSN: | 1386-6346 |
| DOI: | 10.1016/j.hepres.2005.04.008 |
| Popis: | Aims: Familial accumulation of primary biliary cirrhosis (PBC) has been documented. To examine the importance of genetic factors, we carried out family study of the disease with a particular focus on the reactivity profiles of anti-mitochondrial antibodies (AMA). Patients and methods: Eighty-five patients with PBC that we experienced in the period of 1982–2003 were investigated, retrospectively. Twelve patients from a total of six families were investigated clinically and immunologically. Results: Of the 85 patients, 5 (5.9%) were found to have a family history of PBC. The six PBC family relationships consisted of four cases of sisters and two cases of a mother and daughter. HLA haplotypes were identical in two cases and were half-similar in the other cases. AMA titers were almost the same in three families and in five of the six families, sera from individual members within the family showed similar AMA-reactive bands in immunoblotting. Conclusion: The prevalence of PBC is strikingly increased in family members (frequency of 5.9%). Sera from PBC patients of the same family showed the same AMA reactivity profile, suggesting that development of AMA may be greatly influenced by certain underlying genetic factors. Large-scale genomic studies of familial PBC will be critical to identify mechanisms of disease susceptibility. |
| Databáze: | OpenAIRE |
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