The kidney in genetic disease
著者
書誌事項
The kidney in genetic disease
(Genetics in medicine and surgery)
Churchill Livingstone, 1986
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注記
Includes index
内容説明・目次
内容説明
This is part of a series designed to provide trainee and practising doctors with easily accessible and authoritative information about genetic aspects of their specialities. The volumes describe what is known of the hereditary nature of various groups of disease and indicate how this knowledge can be applied in genetic counselling. This text is aimed at nephrologists, clinical geneticists, paediatricians, internists, pathologists, urologists and all those interested in birth defects and developmental anomalies. The text covers the various genetic disorders with renal involvement and for each disease there is information on its clinical presentation, pathology and pathophysiology, genetics, and treatment and prevention, complemented by a selective bibliography. Stress is placed on the completeness of information rather than on detail. The terminology of diseases as presented in the sixth edition of "Mendelian Inheritance in Man" (McKuisk) is followed.
目次
- Developmental anatomy and physiology of the kidney
- abnormalities of kidney structure
- abnormalities of kidney function
- metabolic disorders with renal involvement - aminoacidopathies and organic acidemias, storage diseases, renal stones, other metabolic diseases
- tumours
- haematologic disorders
- chromosomal abnormalities
- other disorders and syndromes. Appendices: genetic diseases associated with different renal abnormalities
- hereditary and acquired aminoacidopathies
- genetic diseases associated with urogenital abnormalities
- antenatal diagnosis of renal disease
- kidney transplantation in genetic renal disease
- chromosomal gene map of genetic conditions.
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