Pediatric Nephrology

, Volume 28, Issue 12, pp 2255–2265 | Cite as

The blind kidney: disorders affecting kidneys and eyes

Educational Review

Abstract

There are many disorders that can affect both the kidneys and the eyes. Awareness of the ocular manifestations of kidney disorders is important as it can guide the diagnosis and facilitate the choice of a specific treatment. Conversely, ophthalmologists need to be aware of potential renal manifestations in disorders presenting initially with visual failure. We review disorders affecting both of these organ systems, based upon cases from our clinical practice to highlight the importance of interdisciplinary collaboration.

Keywords

Kidney Eye Children Syndrome 

Notes

Acknowledgements

Case 4 scenario is based upon a case of Professor Christopher Lyons, paediatric ophthalmologist at British Columbia Childrens Hospital, Burnaby, B.C., Canada, who kindly also provided illustration Fig 2f.

References

  1. 1.
    Izzedine H, Bodaghi B, Launay-Vacher V, Deray G (2003) Eye and kidney: from clinical findings to genetic explanations. J Am Soc Nephrol 14:516–529PubMedCrossRefGoogle Scholar
  2. 2.
    Adalat S, Bockenhauer D, Ledermann SE, Hennekam RC, Woolf AS (2010) Renal malformations associated with mutations of developmental genes: messages from the clinic. Pediatr Nephrol 25:2247–2255PubMedCrossRefGoogle Scholar
  3. 3.
    Bockenhauer D, Medlar AJ, Ashton E, Kleta R, Lench N (2012) Genetic testing in renal disease. Pediatr Nephrol 27:873–883PubMedCrossRefGoogle Scholar
  4. 4.
    Macdonald R, Wilson SW (1996) Pax proteins and eye development. Curr Opin Neurobiol 6:49–56PubMedCrossRefGoogle Scholar
  5. 5.
    Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (2000) Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 136:828–831PubMedGoogle Scholar
  6. 6.
    Baker K, Beales PL (2009) Making sense of cilia in disease: the human ciliopathies. Am J Med Genet Part C, Sem Med Genet 151C:281–295CrossRefGoogle Scholar
  7. 7.
    Waters AM, Beales PL (2011) Ciliopathies: an expanding disease spectrum. Pediatr Nephrol 26:1039–1056PubMedCrossRefGoogle Scholar
  8. 8.
    Bockenhauer D, Bokenkamp A, van’t Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M (2008) Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 3:1430–1436PubMedCrossRefGoogle Scholar
  9. 9.
    Bokenkamp A, Bockenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M (2009) Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr 155:94–99PubMedCrossRefGoogle Scholar
  10. 10.
    Laube GF, Russell-Eggitt IM, van’t Hoff WG (2004) Early proximal tubular dysfunction in Lowe’s syndrome. Arch Dis Child 89:479–480PubMedCrossRefGoogle Scholar
  11. 11.
    Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL (1992) The Lowe’s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358:239–242PubMedCrossRefGoogle Scholar
  12. 12.
    McCrea HJ, De Camilli P (2009) Mutations in phosphoinositide metabolizing enzymes and human disease. Physiology 24:8–16PubMedCrossRefGoogle Scholar
  13. 13.
    Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Fremeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC (2010) Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet 376:794–801PubMedCrossRefGoogle Scholar
  14. 14.
    Deltas C, Pierides A, Voskarides K (2012) The role of molecular genetics in diagnosing familial hematuria(s). Pediatr Nephrol 27:1221–1231PubMedCrossRefGoogle Scholar
  15. 15.
    Fawzi AA, Lee NG, Eliott D, Song J, Stewart JM (2009) Retinal findings in patients with Alport syndrome: expanding the clinical spectrum. Br J Ophthalmol 93:1606–1611PubMedCrossRefGoogle Scholar
  16. 16.
    Benoit G, Machuca E, Antignac C (2010) Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 25:1621–1632PubMedCrossRefGoogle Scholar
  17. 17.
    Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13:2625–2632PubMedCrossRefGoogle Scholar
  18. 18.
    Bredrup C, Matejas V, Barrow M, Blahova K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonca EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietlinski J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I (2008) Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol 146:602–611PubMedCrossRefGoogle Scholar
  19. 19.
    Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA (2005) First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future. Pediatr Nephrol 20:452–454PubMedCrossRefGoogle Scholar
  20. 20.
    Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI (2000) Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab 71:100–120PubMedCrossRefGoogle Scholar
  21. 21.
    Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI (2006) Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. Ophthalmology 113:1002–1009PubMedCrossRefGoogle Scholar
  22. 22.
    Nesterova G, Gahl WA (2013) Cystinosis: the evolution of a treatable disease. Pediatr Nephrol 28:51–59Google Scholar
  23. 23.
    Wilmer MJ, Emma F, Levtchenko EN (2010) The pathogenesis of cystinosis: mechanisms beyond cystine accumulation. Am J Physiol Renal Physiol 299:F905–F916PubMedCrossRefGoogle Scholar
  24. 24.
    Patz A (1978) Current concepts in ophthalmology. Retinal vascular diseases. N Engl J Med 298:1451–1454PubMedCrossRefGoogle Scholar
  25. 25.
    Jahnukainen T, Ala-Houhala M, Karikoski R, Kataja J, Saarela V, Nuutinen M (2011) Clinical outcome and occurrence of uveitis in children with idiopathic tubulointerstitial nephritis. Pediatr Nephrol 26:291–299PubMedCrossRefGoogle Scholar
  26. 26.
    Mackensen F, Smith JR, Rosenbaum JT (2007) Enhanced recognition, treatment, and prognosis of tubulointerstitial nephritis and uveitis syndrome. Ophthalmology 114:995–999PubMedCrossRefGoogle Scholar
  27. 27.
    Mackensen F, Billing H (2009) Tubulointerstitial nephritis and uveitis syndrome. Curr Opin Ophthalmol 20:525–531PubMedCrossRefGoogle Scholar
  28. 28.
    Kadanoff R, Lipps B, Khanna A, Hou S (2004) Tubulointerstitial nephritis with uveitis (TINU): a syndrome rheumatologists should recognize: a case report and review of the literature. J Clin Rheumatol 10:25–27PubMedCrossRefGoogle Scholar

Copyright information

© IPNA 2013

Authors and Affiliations

  1. 1.Department of OphthalmologyGreat Ormond Street Hospital for Children NHS Foundation Trust London UK and UCL Institute of Child HealthLondonUK
  2. 2.Department of NephrologyGreat Ormond Street Hospital for Children NHS Foundation Trust London UK and UCL Institute of Child HealthLondonUK

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