Familial hereditary nephropathy (Alport's syndrome)
| Autor: | Pablo Purriel, Elías Pascale, Antonio Borrás, Walter Acosta Ferreira, Máximo Drets, Adriana De Lucca, Ruth Sánchez Cestau, Lilia Fernández |
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| Rok vydání: | 1970 |
| Předmět: |
Adult
Male medicine.medical_specialty Lineage (genetic) Adolescent Nephritis Hereditary Deafness Eye Kidney Hereditary nephropathy Internal medicine Humans Medicine Child X chromosome Aged Genetics S syndrome business.industry General Medicine Middle Aged medicine.disease Pedigree Endocrinology Child Preschool South american Uruguay Eye disorder Female business Nephritis |
| Zdroj: | The American Journal of Medicine. 49:753-773 |
| ISSN: | 0002-9343 |
| Popis: | In a South American lineage of 668 subjects, mainly Uruguayan, ninety-seven members were afflicted with one or more components of a triad consisting of nephritis, deafness and various eye disorders. These components are described. Men were more severely and more often fatally affected than women. Among the various genetic hypotheses, autosomal association and preferential segregation of X chromosome seems perhaps the most likely, although the data indicate that an additional unknown factor is involved. |
| Databáze: | OpenAIRE |
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