Genetics of kidney disorders and genetics of neuromuscular disorders

Genetics of kidney disorders and genetics of neuromuscular disorders

EarlyHumanlkvelopment, 23 (1990) 147-149 Elsevier Scientific Publishers Ireland Ltd. 147 Book Reviews Genetics of Kidney Disorders and Genetics of N...

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EarlyHumanlkvelopment, 23 (1990) 147-149 Elsevier Scientific Publishers Ireland Ltd.

147

Book Reviews Genetics of Kidney Disorders and Genetics of Neuromuscular Disorders Edited by C.S. Bartsocas. Progress in Clinical and Biological Research Volumes 305 and 306. Alan R. Liss, Inc., New York, 236 pp. and 211 pp. These two volumes are the proceedings of the fifth International Clinical Genetics Seminar held in Crete in October 1988. They are introduced by a quotation from Plutarch which expresses their aims: ‘not the filling-up of jars but rather the starting of fires’. The volume on kidney disorders is divided into the following important groups: malformations, cystic disorders, transport disorders, nephropathies and nephrotic syndromes. A large study of renal dysplasia and agenesis from Boston emphasizes the heterogeneity of these conditions and the importance of obtaining a careful postmortem examination of a baby with ‘Potter’s syndrome’. The overall risk of recurrence for sibs is 4% and the authors emphasize that parents should be examined by renal ultrasound, even if asymptomatic, because 5-10% have a renal malformation. Renal tract and kidney malformations are as common as 1 in 500 and can be diagnosed prenatally by ultrasound examination; renal function can also be assessed prenatally in order to give a guide to management. However, no account is given of renal malformations not recognised by prenatal ultrasound. It is useful that pathological examination can distinguish between autosomal dominant and autosomal recessive cystic kidney lesions and that DNA probes can help to detect gene carriers for the autosomal dominant condition. I was interested in its high frequency in Hungarian gypsies, which is due to founder effect and isolation rather than to inbreeding. A summary of recently discovered inborn errors of metabolism that give rise to Fanconi syndrome is useful and so is a description of the treatment of cystinosis. There is a good account of congenital and infantile nephrotic syndromes, particularly the Finnish congenital nephrosis which in some parts of Finland.affects 1 in 3000 babies. Two clues to this latter condition are markedly raised alphafetoprotein levels in maternal serum and amniotic fluid and a large oedematous placenta. Oedema of the baby and proteinuria develop early in life and the developmental delay of these babies is due to protein starvation. The condition is autosomal recessive and fatal, unless renal transplantation and life-long immunosuppression is undertaken. However, screening programmes involving the measurement of maternal serum alphafetoprotein levels can provide prenatal diagnosis in all cases, so such screening should be initiated throughout Finland in order to give all parents of an affected fetus the opportunity to choose selective termination of pregnancy.

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In the volume on the Genetics of Neuromuscular Disorders there are clear reviews of the muscular dystrophies, spinal muscular atrophies and the periodic paralyses. However some difficult questions that arise during genetic counselling of these conditions are not answered: such as, ‘can gene carriers for limb girdle muscular dystrophy be asymptomatic? If so, can they be identified by a raised serum creatine kinase level, or by myopathic features on the electromyogram?’ It is important to be reminded by a chapter on DNA analysis of Duchenne/Becker muscular dystrophy that gonadal mosaicism in ovaries or sperm is probably present in lo-20% of families with isolated cases. One observation that particularly interested me was the finding that six patients with the Marinesco-Sjogren syndrome (a condition consisting of spastic ataxia, cataracts and mental retardation) had a mitochondrial myopathy. It will be interesting to see whether a similar finding is present in other patients. Hopefully this observation will lead to the elucidation of the biochemical abnormalities of this autosomal recessive condition. There were also other chapters on the interesting mitochondrial encephalomyopathies, including the description of a family in which all nine adult offspring of a woman with deafness and ataxia had evidence of mitochondrial disease. Ethical considerations relating to screening for genetic disease and prenatal diagnosis are discussed in the first Aristoteles lecture. This was a thoughtful paper, largely uncontroversial, but there was a surprising suggestion that there might be certain circumstances when screening for genetic disease in adults should be carried out without consent. Although these books are largely interesting and stimulating, much of their information is contained in other text books and in papers already published. The chapters describing original work are valuable, but the review chapters less so. However, the variety of topics covered serve to interest and stimulate and therefore the books can be recommended for post-graduates with an interest in either neurology or nephrology, but without the time or opportunity to search widely in original literature. ******

The Politics of Maternity Care. Services for Childbearing Century Britain Edited by Jo Garcia, Robert Kilpatrick and Martin Richards. Oxford, Clarendon Press, 1990.

women

in Twentieth

To what extent have developments in the provision of maternity services in Britain reflected social attitudes or political and professional will? This is one of the issues discussed in this multi-author volume. The editors, a social scientist, a historian and a psychologist, have put together contributions from both researchers and practitioners in the field. The authors trace the historical development of maternity services in this country, focus on specific topics such as the conflict between the medical and midwifery professions, the growth of consumer pressure