Abstract
In this chapter we explain:
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How to draw a family pedigree
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Genetic disorders of the glomerulus and tubules
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Current understanding of cystic kidney diseases
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How vesico-ureteric reflux can be associated with kidney disease
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References
Akrawi DS, Li X, Sundquist J, Sundquist K, Zöller B. Familial risks of kidney failure in Sweden: a nationwide family study. PLoS One. 2014;9(11):e113353. doi:10.1371/journal.pone.0113353. eCollection 2014. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244139/.
Hildebrandt F. Genetic kidney diseases. Lancet. 2010;375(9722):1287–95. doi:10.1016/S0140-6736(10)60236-X. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898711/.
Alport AC. Hereditary familial congenital haemorrhagic nephritis. BMJ. 1927;1(3454):504–6. doi:10.1136/bmj.1.3454.504. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2454341/.
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Ocular features in Alport syndrome: pathogenesis and clinical significance. Clin J Am Soc Nephrol. 2015;10(4):703–9. doi:10.2215/CJN.10581014. http://cjasn.asnjournals.org/content/early/2015/01/30/CJN.10581014.abstract.
Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol. 2009;24(11):2121–8. doi:10.1007/s00467-007-0633-9. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2753773.
Walsh SB, Unwin RJ. Renal tubular disorders. Clin Med. 2012;12:476–9. doi:10.7861/clinmedicine.12-5-476. http://www.clinmed.rcpjournal.org/content/12/5/476.full.
Curthoys NP, Moe OW. Proximal tubule function and response to acidosis. Clin J Am Soc Nephrol. 2014;9(9):1627–38. doi:10.2215/CJN.10391012. http://cjasn.asnjournals.org/content/9/9/1627.full.
Dantzler WH, Layton AT, Layton HE, Pannabecker TL. Urine-concentrating mechanism in the inner medulla: function of the thin limbs of the loops of henle. Clin J Am Soc Nephrol. 2014;9(10):1781–9. doi:10.2215/CJN.08750812. http://cjasn.asnjournals.org/content/9/10/1781.full.
Mount DB. Thick ascending limb of the loop of henle. Clin J Am Soc Nephrol. 2014;9(11):1974–86. doi:10.2215/CJN.04480413. http://cjasn.asnjournals.org/content/9/11/1974.full.
Fremont OT, Chan JC. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr. 2012;8(1):25–30. doi:10.1007/s12519-012-0333-9. Epub 2012 Jan 27. http://link.springer.com/article/10.1007%2Fs12519-012-0333-9.
Subramanya AR, Ellison DH. Distal convoluted tubule. Clin J Am Soc Nephrol. 2014;9(12):2147–63. doi:10.2215/CJN.05920613. http://cjasn.asnjournals.org/content/9/12/2147.full.
Pearce D, Soundararajan R, Trimpert C, Kashlan OB, Deen PMT, Kohan DE. Collecting duct principal cell transport processes and their regulation. Clin J Am Soc Nephrol. 2015;10(1):135–46. doi:10.2215/CJN.05760513. http://cjasn.asnjournals.org/content/early/2014/05/28/CJN.05760513.full.
Roy A, Al-bataineh MM, Pastor-Soler NM. Collecting duct intercalated cell function and regulation. Clin J Am Soc Nephrol. 2015;10(2):305–24. doi:10.2215/CJN.08880914. http://cjasn.asnjournals.org/content/early/2015/01/27/CJN.08880914.full?sid=796c6bff-f0fc-48ed-9a74-2b31e165e316.
Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int. 2011;80(4):338–47. doi:10.1038/ki.2011.134. Epub 2011 Jun 8.]. http://www.ncbi.nlm.nih.gov/pubmed/21654721.
Goldfarb DS. Evidence for inheritance of medullary sponge kidney. Kidney Int. 2013;83:193–6. doi:10.1038/ki.2012.417. http://www.nature.com/ki/journal/v83/n2/full/ki2012417a.html.
Fabris A, Lupo A, Ferraro PM, Anglani F, Pei Y, Danza FM, Gambaro G. Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity. Kidney Int. 2013;83:272–7. doi:10.1038/ki.2012.378. http://www.nature.com/ki/journal/v83/n2/full/ki2012378a.html.
Ravine D, Gibson RN, Donlan J, Sheffield LJ. An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases. Am J Kidney Dis. 1993;22(6):803–7. http://www.ncbi.nlm.nih.gov/pubmed/8250026.
Davenport JR, Yoder BK. An incredible decade for the primary cilium: a look at a once-forgotten organelle. Am J Physiol Renal Physiol. 2005;289(6):F1159–69. doi:10.1152/ajprenal.00118.2005. http://ajprenal.physiology.org/content/289/6/F1159.
Pluznick JL, Caplan MJ. Chemical and physical sensors in the regulation of renal function. Clin J Am Soc Nephrol. 2015;10(9):1626–3. doi:10.2215/CJN.00730114. http://cjasn.asnjournals.org/content/early/2014/10/02/CJN.00730114.full.
Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009;119(3):428–37. doi:10.1172/JCI37041. http://www.jci.org/articles/view/37041.
Zhang J, Wu M, Wang S, Shah JV, Wilson PD, Zhou J. Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity. Hum Mol Genet. 2010;19(17):3306–19. doi:10.1093/hmg/ddq233. first published online June 16, 2010; http://hmg.oxfordjournals.org/content/19/17/3306.full.
Avner ED, McDonough AA, Sweeney WE. Transport, cilia, and PKD: must we in (cyst) on interrelationships? Am J Physiol Cell Physiol. 2012;302(10):C1434–5. doi:10.1152/ajpcell.00070.2012. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362002/.
Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Ravine D. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol: JASN. 2009;20(1):205–12. doi:10.1681/ASN.2008050507. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615723.
Bhutani H, Smith V, Rahbari-Oskoui F, Mittal A, Grantham JJ, Torres VE, Mrug M, Bae KT, Wu Z, Ge Y, Landslittel D, Gibbs P, O’Neill WC, Chapman AB. A comparison of ultrasound and magnetic resonance imaging shows that kidney length predicts chronic kidney disease in autosomal dominant polycystic kidney disease. Kidney Int. 2015;88(1):146–51. doi:10.1038/ki.2015.71. Epub 2015 Apr. http://www.nature.com/ki/journal/v88/n1/full/ki201571a.html.
Ong ACM, Devuyst O, Knebelmann B, Walz G. Autosomal dominant polycystic kidney disease: the changing face of clinical management. Lancet. 2015;385(1993):2002. http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(15)60907-2/abstract.
The Tuberous Sclerosis Association http://www.tuberous-sclerosis.org.
Von Hippel-Lindau disease http://www.patient.co.uk/doctor/von-hippel-lindau-disease.
International WAGR Syndrome Association http://www.wagr.org.
Williams G, Fletcher JT, Alexander SI, Craig JC. Vesicoureteral reflux. J Am Soc Nephrol. 2008;19:847–62. doi:10.1681/ASN.2007020245. published ahead of print March 5, 2008. http://jasn.asnjournals.org/content/19/5/847.abstract.
Song R, Yosypiv IV. Genetics of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol. 2011;26(3):353–64. doi:10.1007/s00467-010-1629-4. Epub 2010 Aug 27. http://link.springer.com/article/10.1007%2Fs00467-010-1629-4.
Edwards D, Normand ICS, Prescod N, Smellie JM. Disappearance of vesicoureteric reflux during long-term prophylaxis of urinary tract infection in children. Br Med J. 1977;2:285–8. http://www.bmj.com/content/2/6082/285.
Birmingham Reflux Study Group. Prospective trial of operative versus non-operative treatment of severe vesicoureteric reflux in children: five years’ observation. Br Med J (Clin Res Ed). 1987;295:237–41. http://www.bmj.com/content/295/6592/237.
The RIVUR Trial Investigators. Antimicrobial prophylaxis for children with vesicoureteral reflux. N Engl J Med. 2014;370:2367–76. http://www.nejm.org/doi/full/10.1056/NEJMoa1401811#t=articleTop.
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Rayner, H., Thomas, M., Milford, D. (2016). What Is Your Family History?. In: Understanding Kidney Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-23458-8_7
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DOI: https://doi.org/10.1007/978-3-319-23458-8_7
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