Display options
Cite
Topaloglu R, Gulhan B, İnözü M, et al. The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis. Clin J Am Soc Nephrol. 2017;doi: 10.2215/CJN.00180117.
Topaloglu, R., Gulhan, B., İnözü, M., Canpolat, N., Yilmaz, A., Noyan, A., Dursun, �. �., Gökçe, �. �., Gürgöze, M. K., Akinci, N., Baskin, E., Serdaroğlu, E., Demircioğlu Kiliç, B., Yüksel, S., Övünç Hacihamdioğlu, D., Korkmaz, E., Hayran, M., Ozaltin, F. (2017). The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis. Clinical journal of the American Society of Nephrology : CJASN, . https://doi.org/10.2215/CJN.00180117
Topaloglu, Rezan, et al. "The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis." Clinical journal of the American Society of Nephrology : CJASN vol. (2017). doi: https://doi.org/10.2215/CJN.00180117
Topaloglu R, Gulhan B, İnözü M, Canpolat N, Yilmaz A, Noyan A, Dursun İ, Gökçe İ, Gürgöze MK, Akinci N, Baskin E, Serdaroğlu E, Demircioğlu Kiliç B, Yüksel S, Övünç Hacihamdioğlu D, Korkmaz E, Hayran M, Ozaltin F. The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis. Clin J Am Soc Nephrol. 2017 Aug 09; doi: 10.2215/CJN.00180117. Epub 2017 Aug 09. PMID: 28793998; PMCID: PMC5628704.
Copy Download .nbib Format: NLM
Share it on

Clin J Am Soc Nephrol. 2017 Aug 09; doi: 10.2215/CJN.00180117. Epub 2017 Aug 09.

The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.

Clinical journal of the American Society of Nephrology : CJASN

Rezan Topaloglu, Bora Gulhan, Mihriban İnözü, Nur Canpolat, Alev Yilmaz, Aytül Noyan, İsmail Dursun, İbrahim Gökçe, Metin Kaya Gürgöze, Nurver Akinci, Esra Baskin, Erkin Serdaroğlu, Beltinge Demircioğlu Kiliç, Selçuk Yüksel, Duygu Övünç Hacihamdioğlu, Emine Korkmaz, Mutlu Hayran, Fatih Ozaltin,

Affiliations

  1. Due to the number of contributing authors, the affiliations are provided in the Supplemental Material. [email protected].
  2. Due to the number of contributing authors, the affiliations are provided in the Supplemental Material.

PMID: 28793998 PMCID: PMC5628704 DOI: 10.2215/CJN.00180117

Abstract

BACKGROUND AND OBJECTIVES: Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis.

DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We identified the clinical characteristics and spectrum of cystinosis gene mutations in Turkish patients with cystinosis in a multicenter registry that was established for data collection. The data were extracted from this registry and analyzed.

RESULTS: In total, 136 patients (75 men and 61 women) were enrolled in the study. The most common clinical findings were growth retardation, polyuria, and loss of appetite. None of the patients had the 57-kb deletion, but seven novel mutations were identified. The most common mutations identified were c.681G>A (p.Glu227Glu; 31%), c.1015G>A (p.Gly339Arg; 22%), and c.18_21 del (p.Thr7Phefs*7; 14%). These mutations were associated with earlier age of disease onset than the other mutations. To understand the effects of these allelic variants on clinical progression, the mutations were categorized into two major groups (missense versus deletion/duplication/splice site). Although patients with missense mutations had a better eGFR at the last follow-up visit, the difference was not significant. Patients in whom treatment began at age <2 years old had later onset of ESRD (

CONCLUSIONS: The most common cystinosis gene mutations identified in Turkey were c.681G>A (p.Glu227Glu), c.1015G>A (p.Gly339Arg), and c.18_21 del (p.Thr7Phefs*7). Patients with less severe cystinosis gene mutations tend to have better kidney outcome.

Copyright © 2017 by the American Society of Nephrology.

Keywords: Alleles; Appetite; CTNS gene; Child; Cystinosis; Cystinosis, Infantile Nephropathic; Female; Follow-Up Studies; Humans; Kidney Failure, Chronic; Male; Mutation; Mutation, Missense; Polyuria; Sequence Deletion; Turkey; glomerular filtration rate; kidney

References

  1. Hum Mutat. 2002 Sep;20(3):237 - PubMed
  2. J Biol Chem. 2001 Apr 20;276(16):13314-21 - PubMed
  3. Am J Hum Genet. 1998 Nov;63(5):1352-62 - PubMed
  4. Ophthalmic Genet. 2009 Dec;30(4):185-9 - PubMed
  5. Pediatr Nephrol. 1994 Aug;8(4):466-71 - PubMed
  6. Hum Mutat. 2002 Dec;20(6):439-46 - PubMed
  7. Ann Intern Med. 2007 Aug 21;147(4):242-50 - PubMed
  8. Nephron. 2001 Sep;89(1):50-5 - PubMed
  9. Pediatr Nephrol. 2012 Nov;27(11):2123-2127 - PubMed
  10. JIMD Rep. 2014;14:87-97 - PubMed
  11. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94 - PubMed
  12. Nat Genet. 1998 Apr;18(4):319-24 - PubMed
  13. Kidney Int. 2012 Jan;81(2):179-89 - PubMed
  14. Orphanet J Rare Dis. 2016 Apr 22;11:47 - PubMed
  15. Eur J Hum Genet. 2003 Jul;11(7):503-8 - PubMed
  16. Pediatr Nephrol. 2010 Dec;25(12):2459-67 - PubMed
  17. Genome Res. 2000 Feb;10(2):165-73 - PubMed
  18. Pediatr Nephrol. 2012 Jan;27(1):115-21 - PubMed
  19. Nefrologia. 2013;33(3):308-15 - PubMed
  20. Hum Mutat. 1999;14(6):454-8 - PubMed
  21. N Engl J Med. 2002 Jul 11;347(2):111-21 - PubMed

Publication Types