Seminars in nephrology, 2017-07, Vol.37 (4), p.354-361
2017
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- Autor(en) / Beteiligte
- Titel
- Hereditary Renal Diseases
- Ist Teil von
- Seminars in nephrology, 2017-07, Vol.37 (4), p.354-361
- Ort / Verlag
- United States: Elsevier Inc
- Erscheinungsjahr
- 2017
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. We provide the nephrologist with a general strategy to approach hereditary disorders, which includes a discussion of commonly used genetic tests, a guide to genetic counseling, and reproductive options such as prenatal diagnosis or pre-implantation genetic diagnosis for at-risk couples. Finally, we review pregnancy outcomes in certain renal diseases.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0270-9295eISSN: 1558-4488DOI: 10.1016/j.semnephrol.2017.05.007Titel-ID: cdi_proquest_miscellaneous_1920201092
- Format
- –
- Schlagworte
- Bartter Syndrome - genetics, Chromosome Disorders - genetics, Congenital Abnormalities - genetics, DNA Copy Number Variations, Fabry Disease - genetics, genetic counseling, Genetic Testing, Gitelman Syndrome - genetics, Hereditary renal disease, Humans, Kidney Diseases - genetics, Nephritis, Hereditary - genetics, Polycystic Kidney, Autosomal Dominant - genetics, Polycystic Kidney, Autosomal Recessive - genetics, pre-implantation genetic diagnosis, Urinary Tract - abnormalities