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

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.

Keywords

• Piknodizostozis,katepsin K,klinik,genetik

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

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.

Keywords

• Pycnodysostosis,cathepsin K,clinic,genetic

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