Valdes-Flores Margarita, Hidalgo-Bravo Alberto, Casas-Avila L, Chima-Galan Carmen, Hazan-Lasri Eric J, Pineda-Gomez Ernesto, Lopez-Estrada Druso, Zenteno Juan C
Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
Department of Genomic Medicine, National Medical Center 20th of November, ISSSTE Mexico City, Mexico.
Int J Clin Exp Med. 2014 Nov 15;7(11):3915-23. eCollection 2014.
Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodysostosis gene is located on chromosome 1q21 and encodes an enzyme called Cathepsin K. Cathepsin K is a cysteine protease lysosomal protein associated with the degradation of bone and cartilage. In the current study, the authors described the clinical, radiological and molecular features of a group of six Mexican patients, including two familial and two sporadic cases, with Pyknodysostosis. One of the patients presented hypoacusia, an unusual finding in this disease.
致密性成骨不全症是一种罕见的常染色体隐性遗传性骨骼发育不良疾病，其特征为身材矮小、颅骨畸形、骨质硬化、锁骨发育不全以及骨质脆弱。X线片显示骨密度增加、骨质硬化以及末节指骨的肢端骨质溶解。致密性成骨不全症基因位于1号染色体长臂21区，编码一种名为组织蛋白酶K的酶。组织蛋白酶K是一种与骨和软骨降解相关的溶酶体半胱氨酸蛋白酶。在本研究中，作者描述了一组6例墨西哥致密性成骨不全症患者的临床、放射学和分子特征，其中包括2例家族性病例和2例散发性病例。其中1例患者出现听觉减退，这在该疾病中是一个不寻常的发现。
