Main Article Content
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA) in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl) living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
2. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006;1:16.
3. Olivos-Glander IM, Janne PA, Nussbaum RL. The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet. 1995;57:817-23.
4. Simsek E, Simsek T, Dallar Y, Can O, Willems PJ. A novel pathogenic DNA variation in the OCRL1 gene in Lowe syndrome. J Clin Res Ped Endo. 2011;3:29-31.
5. Janne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, et al. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest. 1998;101:2042-53.
6. Wadelius C, Fagerholm P, Pettersson U, Anneren G. Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. Am J Hum Genet. 1989;44:241-7.
7. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, et al. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997;60:1384-8.
8. Zhang X, Jefferson AB, Auethavekiat V, Majerus PW. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci USA 1995;92:4853-6.
9. Silver DN, Lewis RA, Nussbaum RL. Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest. 1987;79:282-5.
10. Amirhakimi, Fallahzadeh MH, Saneifard H. Lowe syndrome: report of a case and brief literature review. Iran J Pediatr. 2009;19:417-20.
11. Marques A, Ramos L, Gomes C, Correia AJ. Lowe syndrome. Case report of a patient with a missense mutation in the OCRL1 gene. Port J Nephrol Hypert. 2010;24:239-42.
12. Igarashi T. Fanconi syndrome. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Editors. Pediatric nephrology. 6th edition. Berlin Heidelberg: Springer-Verlag; 2009. p.1039-67.
13. Charnas LR, Bernardini I, Rader D, Hoag JM, Gahl WA. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med. 1991;324:1318-25.
14. Hyvola N, Daio A, McKenzie E, Skippen A, Cockcroft S, Lowe M. Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases. EMBO J. 2006;25:3750-61.
15. Rbaibi Y, Cui S, Mo D, Carattino M, Rohatgi R, Satlin LM, et al. OCRL1 modulates cilia length in renal epithelial cells. Traffic. 2012;13:1295-305.
16. Salerno AE, States LJ, Kaplan BS. Rickets. In: Kaplan BS, Meyers KEC. The requisites in pediatrics: pediatric nephrology and urology. Philadelpia: Elsevier Mosby; 2004.p. 122-30.
17. Hui J. Renal tubular disorders. In: Chiu MC, Yap HK, Editors. Practical paediatric nephrology. An update of current practices. Hong Kong: Medcom Limited; 2005. p.196-208.
18. Pirruccello M, De Camilli P. The inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci. 2012;37:134-43.