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Piknodizostozis Sendromlu Bir Türk Ailenin Klinik Rehabilitasyonu ve Katepsin K Geni Analizi

Year 2018, Volume: 2 Issue: 1, 18 - 26, 29.06.2018

Abstract

Psikositozis (PKND), kısa boy, şiddetli kemik kırılganlığı,
ekzoftalmi ve mikrognati gibi oral belirtilerle karakterize, nadir
görülen, otozomal resesif bir hastalıktır. Genellikle hipoplastik
orta yüz, ön çapraz kapanış, derin damak ve dental çapraşıklık gibi
tipik kraniyofasiyal deformiteler ile görülür. Bu olgu sunumunun
amacı, PKND’li üç kardeşin dental tedavilerini sunmak ve
bildirilen vakalar altında pycnodysostosis için Katepsin K’yı
analiz etmektir. Kliniğimize başvuran ailenin 5 çocuğundan
üçünde piknodizostosis görülürken, diğer iki kardeş sağlıklıydı.
Çocukların detaylı klinik ve radyolojik muayeneleri yapıldıktan
sonra etkilenen bireylerin gerekli restoratif ve koruyucu tedavileri
tamamlandı. Altta yatan nedeni açığa çıkarmak amacıyla, Katepsin
K amplifiye edildi ve spesifik primerler kullanılarak doğrudan
sekanslandı. Etkilenen tüm kardeşler homozigot bir durum
olarak L7P varyasyonu taşırken, sağlıklı kardeşlerde ise aynı
durumun heterozigot hali gözlendi. Piknodizostozis sendromlu
hastalarda kemik kırıklarının kolay oluşması ve tedaviler için
erişimi zorlaştıran sınırlı ağız açıklıkları nedeniyle erken tanı ve
müdahale oldukça önemlidir. PKND hastaları için sık kontroller
planlanmalıdır. Düzenli ağız bakımı ve koruyucu tedavilerin
erken dönemde yapılması hastalara daha iyi bir yaşam kalitesi
sağlamaktadır. Katepsin K’nın L7P varyasyonunun PKND için bir
tanı kriteri olabileceğini düşünmekteyiz.

References

  • Hernández-Alfaro F, Arenaz Búa J, Serra Serrat M, Mareque Bueno J. Orthognathic surgery in pycnodysostosis: a case report. Int J Oral Maxillofac Surg. 2011; 40(1):110-113.
  • Barnard B., Hiddema W. Pycnodysostosis with the focus on clinical and radiographic findings. Afr J Rad. 2012;16(2):74-76.
  • Alakus Sabuncuoglu F, Ölmez H. Craniofacial And Intraoral Evaluation Pycnodysostosis: (A Case Report). J Dent Faculty Atatürk Uni. 2012; 5:24-28.
  • Soares LF, Souza IP, Cardoso AS, Pomarico L. Pyknodysostosis: oral findings and differential diagnosis. J Indian Soc Pedod Prev Dent. 2008; 26: 23-5.
  • Arman A, Bereket A, Coker A, Kiper PÖŞ, Güran T, Özkan B, Atay Z, Akçay T, Haliloglu B, Boduroglu K, Alanay Y, Turan S. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis. 2014; 26;9:60, doi:10.1186/1750-1172-9-60.
  • Kafienah W, Bromme D, Buttle DJ, Croucher LJ, Hollander AP. Human cathepsin K cleaves native type I and II collagens at N-teminal end of the triple helix. Biochem J. 1998;331:727–732.
  • Xue Y, Cai T, Shi S, Wang W, Zhang Y, Mao T, Duan X. Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis. 2011;6:20.
  • Kamak H, Kamak G, Yavuz I. Clinical, radiographic, diagnostic and cephalometric features of pycnodysostosis in comparison with Turkish cephalometric norms: A case report. Eur J Dent. 2012; 6(4):454-459.
  • Alves N, Cantín M. Clinical and radiographic maxillofacial features of pycnodysostosis. Int J Clin Exp Med. 2014; 7(3):492-496.
  • Alves Pereira D., Berini Aytés L, Gay Escoda C. Pycnodysostosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008; 1;13(10):E633-5.
  • Fonteles CS, Chaves CM Jr, Da Silveira A, Soares EC, Couto JL, de Azevedo Mde F. Cephalometric characteristics and dentofacial abnormalities of pycnodysostosis: report of four cases from Brazil. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007; 10 (4):e83-90.
  • Hunt NP , Cunninghan SJ, Adnan N, Harris M. The dental, craniofacial, and biochemical features of pyknodisostosis: A report of three new cases. J Oral Maxillofac Surg. 1998; 56:497-504.
  • Norholt SE, Bjerregaard J, Mosekilde L. Maxillary distraction osteogenesis in a patient with pycnodysostosis: a case report. J Oral Maxillofac Surg. 2004;62:1037-1040.
  • Landa S, Esteban S, Montes E, Santamaria J, Vitoria A, Santolaya JM. Maxillofacial alterations in a family with pycnodysostosis. Med Oral. 2000;5:169-176.
  • Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Hum Mutat. 2007; 28(5):524.

The Clinical Rehabilitation and Cathepsin K Gene Analysis of a Turkish Family With Pycnodysostosis

Year 2018, Volume: 2 Issue: 1, 18 - 26, 29.06.2018

Abstract

Pycnodysostosis (PKND) is a rare, autosomal recessive disease
characterized by short stature, severe bone fragility exophthalmus
and oral manifestations such as micrognathia. It usually
demonstrates typical craniofacial deformities, such as hypoplastic
midface, anterior cross-bite, grooved palate and dental crowding.
The aim of this case report is to report the rehabilitation and
analyze the cathepsin K for pycnodysostosis under reported cases
of three siblings with PKND. A family with 5 siblings, 3 effected
and 2 non – effected, were examined clinically and radiologically,
and restorative treatments and protective applications were carried
out in the effected members. To clarify the underlying reason,
cathepsin K was amplified and sequenced directly by using
specific primers. All the affected members carried L7P variation as
homozygous state, whereas unaffected had the heterozygous state
of the same condition. Early diagnosis and treatment is important
with PKND patients, since bone fractures easily occur during
dental treatment and limited mouth opening makes it difficult to
access the treated area. Frequent recalls should be planned for
PKND patients. Regular oral care and early preventive treatments
ensure the patients a better life quality. Also, we suggest that L7P
variation of cathepsin K may be a diagnostic criterion for PKND.

References

  • Hernández-Alfaro F, Arenaz Búa J, Serra Serrat M, Mareque Bueno J. Orthognathic surgery in pycnodysostosis: a case report. Int J Oral Maxillofac Surg. 2011; 40(1):110-113.
  • Barnard B., Hiddema W. Pycnodysostosis with the focus on clinical and radiographic findings. Afr J Rad. 2012;16(2):74-76.
  • Alakus Sabuncuoglu F, Ölmez H. Craniofacial And Intraoral Evaluation Pycnodysostosis: (A Case Report). J Dent Faculty Atatürk Uni. 2012; 5:24-28.
  • Soares LF, Souza IP, Cardoso AS, Pomarico L. Pyknodysostosis: oral findings and differential diagnosis. J Indian Soc Pedod Prev Dent. 2008; 26: 23-5.
  • Arman A, Bereket A, Coker A, Kiper PÖŞ, Güran T, Özkan B, Atay Z, Akçay T, Haliloglu B, Boduroglu K, Alanay Y, Turan S. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis. 2014; 26;9:60, doi:10.1186/1750-1172-9-60.
  • Kafienah W, Bromme D, Buttle DJ, Croucher LJ, Hollander AP. Human cathepsin K cleaves native type I and II collagens at N-teminal end of the triple helix. Biochem J. 1998;331:727–732.
  • Xue Y, Cai T, Shi S, Wang W, Zhang Y, Mao T, Duan X. Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis. 2011;6:20.
  • Kamak H, Kamak G, Yavuz I. Clinical, radiographic, diagnostic and cephalometric features of pycnodysostosis in comparison with Turkish cephalometric norms: A case report. Eur J Dent. 2012; 6(4):454-459.
  • Alves N, Cantín M. Clinical and radiographic maxillofacial features of pycnodysostosis. Int J Clin Exp Med. 2014; 7(3):492-496.
  • Alves Pereira D., Berini Aytés L, Gay Escoda C. Pycnodysostosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008; 1;13(10):E633-5.
  • Fonteles CS, Chaves CM Jr, Da Silveira A, Soares EC, Couto JL, de Azevedo Mde F. Cephalometric characteristics and dentofacial abnormalities of pycnodysostosis: report of four cases from Brazil. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007; 10 (4):e83-90.
  • Hunt NP , Cunninghan SJ, Adnan N, Harris M. The dental, craniofacial, and biochemical features of pyknodisostosis: A report of three new cases. J Oral Maxillofac Surg. 1998; 56:497-504.
  • Norholt SE, Bjerregaard J, Mosekilde L. Maxillary distraction osteogenesis in a patient with pycnodysostosis: a case report. J Oral Maxillofac Surg. 2004;62:1037-1040.
  • Landa S, Esteban S, Montes E, Santamaria J, Vitoria A, Santolaya JM. Maxillofacial alterations in a family with pycnodysostosis. Med Oral. 2000;5:169-176.
  • Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Hum Mutat. 2007; 28(5):524.
There are 15 citations in total.

Details

Primary Language English
Subjects Dentistry
Journal Section Articles
Authors

Belen Şirinoglu Çapan This is me

Serap Akyüz This is me

Korkut Ulucan

Publication Date June 29, 2018
Published in Issue Year 2018 Volume: 2 Issue: 1

Cite

APA Şirinoglu Çapan, B., Akyüz, S., & Ulucan, K. (2018). The Clinical Rehabilitation and Cathepsin K Gene Analysis of a Turkish Family With Pycnodysostosis. European Journal of Research in Dentistry, 2(1), 18-26.